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  • Nature Publishing Group  (363,432)
  • Molecular Diversity Preservation International (MDPI)
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  • 1
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    Arctic glaciers record wavier circumpolar winds (2022)
    Nature Publishing Group
    In:  EPIC3Nature Climate Change, Nature Publishing Group, 12(3), pp. 249-255
    Details
    Publication Date: 2022-06-20
    Repository Name: EPIC Alfred Wegener Institut
    Type: Article , isiRev
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  • 2
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    Non-syntrophic methanogenic hydrocarbon degradation by an archaeal species (2022)
    Nature Publishing Group
    In:  EPIC3Nature, Nature Publishing Group, 601(7892), pp. 257-262
    Details
    Publication Date: 2022-08-11
    Description: The methanogenic degradation of oil hydrocarbons can proceed through syntrophic partnerships of hydrocarbon-degrading bacteria and methanogenic archaea1,2,3. However, recent culture-independent studies have suggested that the archaeon ‘Candidatus Methanoliparum’ alone can combine the degradation of long-chain alkanes with methanogenesis4,5. Here we cultured Ca. Methanoliparum from a subsurface oil reservoir. Molecular analyses revealed that Ca. Methanoliparum contains and overexpresses genes encoding alkyl-coenzyme M reductases and methyl-coenzyme M reductases, the marker genes for archaeal multicarbon alkane and methane metabolism. Incubation experiments with different substrates and mass spectrometric detection of coenzyme-M-bound intermediates confirm that Ca. Methanoliparum thrives not only on a variety of long-chain alkanes, but also on n-alkylcyclohexanes and n-alkylbenzenes with long n-alkyl (C≥13) moieties. By contrast, short-chain alkanes (such as ethane to octane) or aromatics with short alkyl chains (C≤12) were not consumed. The wide distribution of Ca. Methanoliparum4,5,6 in oil-rich environments indicates that this alkylotrophic methanogen may have a crucial role in the transformation of hydrocarbons into methane.
    Repository Name: EPIC Alfred Wegener Institut
    Type: Article , NonPeerReviewed
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  • 3
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    The impact of faulting complexity and type on earthquake rupture dynamics (2022)
    Nature Publishing Group
    Details
    Publication Date: 2022-10-31
    Description: The statistical properties of seismicity are known to be affected by several factors such as the rheological parameters of rocks. We analysed the earthquake double-couple as a function of the faulting type. Here we show that it impacts the moment tensors of earthquakes: thrust- faulting events are characterized by higher double-couple components with respect to strike- slip- and normal-faulting earthquakes. Our results are coherent with the stress dependence of the scaling exponent of the Gutenberg-Richter law, which is anticorrelated to the double- couple. We suggest that the structural and tectonic control of seismicity may have its origin in the complexity of the seismogenic source marked by the width of the cataclastic damage zone and by the slip of different fault planes during the same seismic event; the sharper and concentrated the slip as along faults, the higher the double-couple. This phenomenon may introduce bias in magnitude estimation, with possible impact on seismic forecasting.
    Description: Published
    Description: 258
    Description: 2T. Deformazione crostale attiva
    Description: JCR Journal
    Keywords: double couple ; damage zone ; different fault type ; seismicity ; tectonics ; fault type ; seismicity ; 04.06. Seismology
    Repository Name: Istituto Nazionale di Geofisica e Vulcanologia (INGV)
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  • 4
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    Antarctic icebergs reorganize ocean circulation during Pleistocene glacials (2021)
    Nature Publishing Group
    In:  EPIC3Nature, Nature Publishing Group, 589(7841), pp. 236-241, ISSN: 0028-0836
    Details
    Publication Date: 2021-02-03
    Description: The dominant feature of large-scale mass transfer in the modern ocean is the Atlantic meridional overturning circulation (AMOC). The geometry and vigour of this circulation influences global climate on various timescales. Palaeoceanographic evidence suggests that during glacial periods of the past 1.5 million years the AMOC had markedly different features from today; in the Atlantic basin, deep waters of Southern Ocean origin increased in volume while above them the core of the North Atlantic Deep Water (NADW) shoaled. An absence of evidence on the origin of this phenomenon means that the sequence of events leading to global glacial conditions remains unclear. Here we present multi-proxy evidence showing that northward shifts in Antarctic iceberg melt in the Indian–Atlantic Southern Ocean (0–50°E) systematically preceded deep-water mass reorganizations by one to two thousand years during Pleistocene-era glaciations. With the aid of iceberg-trajectory model experiments, we demonstrate that such a shift in iceberg trajectories during glacial periods can result in a considerable redistribution of freshwater in the Southern Ocean. We suggest that this, in concert with increased sea-ice cover, enabled positive buoyancy anomalies to ‘escape’ into the upper limb of the AMOC, providing a teleconnection between surface Southern Ocean conditions and the formation of NADW. The magnitude and pacing of this mechanism evolved substantially across the mid-Pleistocene transition, and the coeval increase in magnitude of the ‘southern escape’ and deep circulation perturbations implicate this mechanism as a key feedback in the transition to the ‘100-kyr world’, in which glacial–interglacial cycles occur at roughly 100,000-year periods.
    Repository Name: EPIC Alfred Wegener Institut
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  • 5
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    Bacterial communities in temperate and polar coastal sands are seasonally stable (2021)
    Nature Publishing Group
    In:  EPIC3ISME Communications, Nature Publishing Group, 1(1), pp. 1-11
    Details
    Publication Date: 2021-10-20
    Description: Coastal sands are biocatalytic filters for dissolved and particulate organic matter of marine and terrestrial origin, thus, acting as centers of organic matter transformation. At high temporal resolution, we accessed the variability of benthic bacterial communities over two annual cycles at Helgoland (North Sea), and compared it with seasonality of communities in Isfjorden (Svalbard, 78°N) sediments, where primary production does not occur during winter. Benthic community structure remained stable in both, temperate and polar sediments on the level of cell counts and 16S rRNA-based taxonomy. Actinobacteriota of uncultured Actinomarinales and Microtrichales were a major group, with 8 ± 1% of total reads (Helgoland) and 31 ± 6% (Svalbard). Their high activity (frequency of dividing cells 28%) and in situ cell numbers of 〉10% of total microbes in Svalbard sediments, suggest Actinomarinales and Microtrichales as key heterotrophs for carbon mineralization. Even though Helgoland and Svalbard sampling sites showed no phytodetritus-driven changes of the benthic bacterial community structure, they harbored significantly different communities (p 〈 0.0001, r = 0.963). The temporal stability of benthic bacterial communities is in stark contrast to the dynamic succession typical of coastal waters, suggesting that pelagic and benthic bacterial communities respond to phytoplankton productivity very differently.
    Repository Name: EPIC Alfred Wegener Institut
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  • 6
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    Small sinking particles control anammox rates in the Peruvian oxygen minimum zone (2021)
    Nature Publishing Group
    In:  EPIC3Nature Communications, Nature Publishing Group, 12(1), pp. 1-12
    Details
    Publication Date: 2022-08-15
    Description: Anaerobic oxidation of ammonium (anammox) in oxygen minimum zones (OMZs) is a major pathway of oceanic nitrogen loss. Ammonium released from sinking particles has been suggested to fuel this process. During cruises to the Peruvian OMZ in April–June 2017 we found that anammox rates are strongly correlated with the volume of small particles (128–512 µm), even though anammox bacteria were not directly associated with particles. This suggests that the relationship between anammox rates and particles is related to the ammonium released from particles by remineralization. To investigate this, ammonium release from particles was modelled and theoretical encounters of free-living anammox bacteria with ammonium in the particle boundary layer were calculated. These results indicated that small sinking particles could be responsible for ~75% of ammonium release in anoxic waters and that free-living anammox bacteria frequently encounter ammonium in the vicinity of smaller particles. This indicates a so far underestimated role of abundant, slow-sinking small particles in controlling oceanic nutrient budgets, and furthermore implies that observations of the volume of small particles could be used to estimate N-loss across large areas.
    Repository Name: EPIC Alfred Wegener Institut
    Type: Article , NonPeerReviewed
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  • 7
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    Asian dust-storm activity dominated by Chinese dynasty changes since 2000 BP (2020)
    Nature Publishing Group
    In:  EPIC3Nature Communications, Nature Publishing Group, 11(1), pp. 1-7, ISSN: 2041-1723
    Details
    Publication Date: 2020-04-14
    Description: The Asian monsoon (AM) played an important role in the dynastic history of China, yet it remains unknown whether AM-mediated shifts in Chinese societies affect earth surface processes to the point of exceeding natural variability. Here, we present a dust storm intensity record dating back to the first unified dynasty of China (the Qin Dynasty, 221–207 B.C.E.). Marked increases in dust storm activity coincided with unified dynasties with large populations during strong AM periods. By contrast, reduced dust storm activity corresponded to decreased population sizes and periods of civil unrest, which was co-eval with a weakened AM. The strengthened AM may have facilitated the development of Chinese civilizations, destabilizing the topsoil and thereby increasing the dust storm frequency. Beginning at least 2000 years ago, human activities might have started to overtake natural climatic variability as the dominant controls of dust storm activity in eastern China.
    Repository Name: EPIC Alfred Wegener Institut
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  • 8
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    Successful ecosystem-based management of Antarctic krill should address uncertainties in krill recruitment, behaviour and ecological adaptation (2020)
    Nature Publishing Group
    In:  EPIC3Communications Earth & Environment, Nature Publishing Group, 1(28), ISSN: 2662-4435
    Details
    Publication Date: 2020-11-12
    Description: Antarctic krill, Euphausia superba, supports a valuable commercial fishery in the Southwest Atlantic, which holds the highest krill densities and is warming rapidly. The krill catch is increasing, is concentrated in a small area, and has shifted seasonally from summer to autumn/winter. The fishery is managed by the Commission for the Conservation of Antarctic Marine Living Resources, with the main goal of safeguarding the large populations of krill-dependent predators. Here we show that, because of the restricted distribution of successfully spawning krill and high inter-annual variability in their biomass, the risk of direct fishery impacts on the krill stock itself might be higher than previously thought. We show how management benefits could be achieved by incorporating uncertainty surrounding key aspects of krill ecology into management decisions, and how knowledge can be improved in these key areas. This improved information may be supplied, in part, by the fishery itself.
    Repository Name: EPIC Alfred Wegener Institut
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  • 9
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    Return to rapid ice loss in Greenland and record loss in 2019 detected by the GRACE-FO satellites (2020)
    Nature Publishing Group
    In:  EPIC3Communications Earth & Environment, Nature Publishing Group, 1(1), pp. 1-8
    Details
    Publication Date: 2022-06-20
    Description: Between 2003-2016, the Greenland ice sheet (GrIS) was one of the largest contributors to sea level rise, as it lost about 255 Gt of ice per year. This mass loss slowed in 2017 and 2018 to about 100 Gt yr−1. Here we examine further changes in rate of GrIS mass loss, by analyzing data from the GRACE-FO (Gravity Recovery and Climate Experiment – Follow On) satellite mission, launched in May 2018. Using simulations with regional climate models we show that the mass losses observed in 2017 and 2018 by the GRACE and GRACE-FO missions are lower than in any other two year period between 2003 and 2019, the combined period of the two missions. We find that this reduced ice loss results from two anomalous cold summers in western Greenland, compounded by snow-rich autumn and winter conditions in the east. For 2019, GRACE-FO reveals a return to high melt rates leading to a mass loss of 223 ± 12 Gt month−1 during the month of July alone, and a record annual mass loss of 532 ± 58 Gt yr−1.
    Repository Name: EPIC Alfred Wegener Institut
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  • 10
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    Permafrost is warming at a global scale (2019)
    Nature Publishing Group
    In:  EPIC3Nature Communications, Nature Publishing Group, 10(1), pp. 1-11, ISSN: 2041-1723
    Details
    Publication Date: 2021-01-12
    Description: Permafrost warming has the potential to amplify global climate change, because when frozen sediments thaw it unlocks soil organic carbon. Yet to date, no globally consistent assessment of permafrost temperature change has been compiled. Here we use a global data set of permafrost temperature time series from the Global Terrestrial Network for Permafrost to evaluate temperature change across permafrost regions for the period since the International Polar Year (2007–2009). During the reference decade between 2007 and 2016, ground temperature near the depth of zero annual amplitude in the continuous permafrost zone increased by 0.39 ± 0.15 °C. Over the same period, discontinuous permafrost warmed by 0.20 ± 0.10 °C. Permafrost in mountains warmed by 0.19 ± 0.05 °C and in Antarctica by 0.37 ± 0.10 °C. Globally, permafrost temperature increased by 0.29 ± 0.12 °C. The observed trend follows the Arctic amplification of air temperature increase in the Northern Hemisphere. In the discontinuous zone, however, ground warming occurred due to increased snow thickness while air temperature remained statistically unchanged.
    Repository Name: EPIC Alfred Wegener Institut
    Type: Article , isiRev , info:eu-repo/semantics/article
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  • 11
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    The role of stratospheric ozone for Arctic-midlatitude linkages (2019)
    Nature Publishing Group
    In:  EPIC3Scientific Reports, Nature Publishing Group, 9(7962), ISSN: 2045-2322
    Details
    Publication Date: 2019-06-11
    Description: Arctic warming was more pronounced than warming in midlatitudes in the last decades making this region a hotspot of climate change. Associated with this, a rapid decline of sea-ice extent and a decrease of its thickness has been observed. Sea-ice retreat allows for an increased transport of heat and momentum from the ocean up to the tropo- and stratosphere by enhanced upward propagation of planetary-scale atmospheric waves. In the upper atmosphere, these waves deposit the momentum transported, disturbing the stratospheric polar vortex, which can lead to a breakdown of this circulation with the potential to also significantly impact the troposphere in mid- to late-winter and early spring. Therefore, an accurate representation of stratospheric processes in climate models is necessary to improve the understanding of the impact of retreating sea ice on the atmospheric circulation. By modeling the atmospheric response to a prescribed decline in Arctic sea ice, we show that including interactive stratospheric ozone chemistry in atmospheric model calculations leads to an improvement in tropo-stratospheric interactions compared to simulations without interactive chemistry. This suggests that stratospheric ozone chemistry is important for the understanding of sea ice related impacts on atmospheric dynamics.
    Repository Name: EPIC Alfred Wegener Institut
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  • 12
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    Global analysis reveals climatic controls on the oxygen isotope composition of cave drip water (2019)
    Nature Publishing Group
    In:  EPIC3Nature Communications, Nature Publishing Group, 10(1), pp. 1-7, ISSN: 2041-1723
    Details
    Publication Date: 2019-07-15
    Description: The oxygen isotope composition of speleothems is a widely used proxy for past climate change. Robust use of this proxy depends on understanding the relationship between precipitation and cave drip water δ18O. Here, we present the first global analysis, based on data from 163 drip sites, from 39 caves on five continents, showing that drip water δ18O is most similar to the amount-weighted precipitation δ18O where mean annual temperature (MAT) is 〈 10 °C. By contrast, for seasonal climates with MAT 〉 10 °C and 〈 16 °C, drip water δ18O records the recharge-weighted δ18O. This implies that the δ18O of speleothems (formed in near isotopic equilibrium) are most likely to directly reflect meteoric precipitation in cool climates only. In warmer and drier environments, speleothems will have a seasonal bias toward the precipitation δ18O of recharge periods and, in some cases, the extent of evaporative fractionation of stored karst water.
    Repository Name: EPIC Alfred Wegener Institut
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  • 13
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    Resolving the controls of water vapour isotopes in the Atlantic sector (2019)
    Nature Publishing Group
    In:  EPIC3Nature Communications, Nature Publishing Group, 10, ISSN: 2041-1723
    Details
    Publication Date: 2020-01-21
    Description: Stable water isotopes are employed as hydrological tracers to quantify the diverse implications of atmospheric moisture for climate. They are widely used as proxies for studying past climate changes, e.g., in isotope records from ice cores and speleothems. Here, we present a new isotopic dataset of both near-surface vapour and ocean surface water from the North Pole to Antarctica, continuously measured from a research vessel throughout the Atlantic and Arctic Oceans during a period of two years. Our observations contribute to a better understanding and modelling of water isotopic composition. The observations reveal that the vapour deuterium excess within the atmospheric boundary layer is not modulated by wind speed, contrary to the commonly used theory, but controlled by relative humidity and sea surface temperature only. In sea ice covered regions, the sublimation of deposited snow on sea ice is a key process controlling the local water vapour isotopic composition.
    Repository Name: EPIC Alfred Wegener Institut
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  • 14
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    Contributions of GRACE to understanding climate change (2019)
    Nature Publishing Group
    In:  EPIC3Nature Climate Change, Nature Publishing Group, 9(5), pp. 358-369
    Details
    Publication Date: 2022-06-20
    Description: Time-resolved satellite gravimetry has revolutionized understanding of mass transport in the Earth system. Since 2002, the Gravity Recovery and Climate Experiment (GRACE) has enabled monitoring of the terrestrial water cycle, ice sheet and glacier mass balance, sea level change and ocean bottom pressure variations, as well as understanding responses to changes in the global climate system. Initially a pioneering experiment of geodesy, the time-variable observations have matured into reliable mass transport products, allowing assessment and forecast of a number of important climate trends, and improvements in service applications such as the United States Drought Monitor. With the successful launch of the GRACE Follow-On mission, a multi-decadal record of mass variability in the Earth system is within reach.
    Repository Name: EPIC Alfred Wegener Institut
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  • 15
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    Spatio-temporal variability of processes across Antarctic ice-bed-ocean interfaces (2018)
    Nature Publishing Group
    In:  EPIC3Nature Communications, Nature Publishing Group, 9, ISSN: 2041-1723
    Details
    Publication Date: 2018-09-20
    Description: Understanding how the Antarctic ice sheet will respond to global warming relies on knowledge of how it has behaved in the past. The use of numerical models, the only means to quantitatively predict the future, is hindered by limitations to topographic data both now and in the past, and in knowledge of how subsurface oceanic, glaciological and hydrological processes interact. Incorporating the variety and interplay of such processes, operating at multiple spatio-temporal scales, is critical to modeling the Antarctic’s system evolution and requires direct observations in challenging locations. As these processes do not observe disciplinary boundaries neither should our future research.
    Repository Name: EPIC Alfred Wegener Institut
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  • 16
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    Universal molecular structures in natural dissolved organic matter (2018)
    Nature Publishing Group
    In:  EPIC3Nature Communication, Nature Publishing Group, 9(3178), ISSN: 2041-1723
    Details
    Publication Date: 2019-02-13
    Description: Natural dissolved organic matter (DOM) comprises a broad range of dissolved organic molecules in aquatic systems and is among the most complex molecular mixtures known. Here we show, by comparing detailed structural fingerprints of individual molecular formulae in DOM from a set of four marine and one freshwater environments, that a major component of DOM is molecularly indistinguishable in these diverse samples. Molecular conformity was not only apparent by the co-occurrence of thousands of identical molecular formulae, but also by identical structural features of those isomers that collectively represent a molecular formula. The presence of a large pool of compounds with identical structural features in DOM is likely the result of a cascade of degradation processes or common synthetic pathways that ultimately lead to the formation of a universal background, regardless of origin and history of the organic material. This novel insight impacts our understanding of long-term turnover of DOM as the underlying mechanisms are possibly universal.
    Repository Name: EPIC Alfred Wegener Institut
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  • 17
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    Establishing anaerobic hydrocarbon-degrading enrichment cultures of microorganisms under strictly anoxic conditions (2018)
    Nature Publishing Group
    In:  EPIC3Nature Protocols, Nature Publishing Group, 13(6), pp. 1310-1330, ISSN: 1754-2189
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    Publication Date: 2020-02-23
    Description: Traditionally, the description of microorganisms starts with their isolation from an environmental sample. Many environmentally relevant anaerobic microorganisms grow very slowly, and often they rely on syntrophic interactions with other microorganisms. This impedes their isolation and characterization by classic microbiological techniques. We developed and applied an approach for the successive enrichment of syntrophic hydrocarbon-degrading microorganisms from environmental samples. We collected samples from microbial mat-covered hydrothermally heated hydrocarbon-rich sediments of the Guaymas Basin and mixed them with synthetic mineral medium to obtain sediment slurries. Supplementation with defined substrates (i.e., methane or butane), incubation at specific temperatures, and a regular maintenance procedure that included the measurement of metabolic products and stepwise dilutions enabled us to establish highly active, virtually sediment-free enrichment cultures of actively hydrocarbon-degrading communities in a 6-months to several-years' effort. Using methane as sole electron donor shifted the originally highly diverse microbial communities toward defined mixed cultures dominated by syntrophic consortia consisting of anaerobic methane-oxidizing archaea (ANME) and different sulfate-reducing bacteria. Cultivation with butane at 50 °C yielded consortia of archaea belonging to Candidatus Syntrophoarchaeum and Candidatus Desulfofervidus auxilii partner bacteria. This protocol also describes sampling for further molecular characterization of enrichment cultures by fluorescence in situ hybridization (FISH), and transcriptomics and metabolite analyses, which can provide insights into the functioning of hydrocarbon metabolism in archaea and resolve important mechanisms that enable electron transfer to their sulfate-reducing partner bacteria.
    Repository Name: EPIC Alfred Wegener Institut
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  • 18
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    FoodOn: a harmonized food ontology to increase global food traceability, quality control and data integration (2018)
    Nature Publishing Group
    In:  EPIC3npj Science of Food, Nature Publishing Group, 2(23), pp. 1-10
    Details
    Publication Date: 2020-02-12
    Description: The construction of high capacity data sharing networks to support increasing government and commercial data exchange has highlighted a key roadblock: the content of existing Internet-connected information remains siloed due to a multiplicity of local languages and data dictionaries. This lack of a digital lingua franca is obvious in the domain of human food as materials travel from their wild or farm origin, through processing and distribution chains, to consumers. Well defined, hierarchical vocabulary, connected with logical relationships—in other words, an ontology—is urgently needed to help tackle data harmonization problems that span the domains of food security, safety, quality, production, distribution, and consumer health and convenience. FoodOn (http://foodon.org) is a consortium-driven project to build a comprehensive and easily accessible global farm-to-fork ontology about food, that accurately and consistently describes foods commonly known in cultures from around the world. FoodOn addresses food product terminology gaps and supports food traceability. Focusing on human and domesticated animal food description, FoodOn contains animal and plant food sources, food categories and products, and other facets like preservation processes, contact surfaces, and packaging. Much of FoodOn’s vocabulary comes from transforming LanguaL, a mature and popular food indexing thesaurus, into a World Wide Web Consortium (W3C) OWL Web Ontology Language-formatted vocabulary that provides system interoperability, quality control, and software-driven intelligence. FoodOn compliments other technologies facilitating food traceability, which is becoming critical in this age of increasing globalization of food networks.
    Repository Name: EPIC Alfred Wegener Institut
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  • 19
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    Ocean convection linked to the recent ice edge retreat along east Greenland (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 1287, doi:10.1038/s41467-018-03468-6.
    Description: Warm subtropical-origin Atlantic water flows northward across the Greenland-Scotland Ridge into the Nordic Seas, where it relinquishes heat to the atmosphere and gradually transforms into dense Atlantic-origin water. Returning southward along east Greenland, this water mass is situated beneath a layer of cold, fresh surface water and sea ice. Here we show, using measurements from autonomous ocean gliders, that the Atlantic-origin water was re-ventilated while transiting the western Iceland Sea during winter. This re-ventilation is a recent phenomenon made possible by the retreat of the ice edge toward Greenland. The fresh surface layer that characterises this region in summer is diverted onto the Greenland shelf by enhanced onshore Ekman transport induced by stronger northerly winds in fall and winter. Severe heat loss from the ocean offshore of the ice edge subsequently triggers convection, which further transforms the Atlantic-origin water. This re-ventilation is a counterintuitive occurrence in a warming climate, and highlights the difficulties inherent in predicting the behaviour of the complex coupled climate system.
    Description: Support for this work was provided by the Norwegian Research Council under Grant agreement no. 231647 (L.H. and K.V.), the Bergen Research Foundation under Grant BFS2016REK01 (K.V.), and the Centre for Climate Dynamics at the Bjerknes Centre through the FRESHWATER project (K.V.). Additional funding was provided by the Swiss National Science Foundation grants P2EZP2162267 and P300P2174307 (L.P.), the National Science Foundation grant OCE-1558742 (M.A.S.), the Norway Fulbright Foundation (K.V.), the Canada Fulbright Foundation (G.W.K.M.), and the Natural Sciences and Engineering Research Council of Canada (G.W.K.M.).
    Repository Name: Woods Hole Open Access Server
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  • 20
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    Tidal and diel orchestration of behaviour and gene expression in an intertidal mollusc (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 4917, doi:10.1038/s41598-018-23167-y.
    Description: Intertidal inhabitants are exposed to the 24-hour solar day, and the 12.4 hour rising and falling of the tides. One or both of these cycles govern intertidal organisms’ behaviour and physiology, yet little is known about the molecular clockworks of tidal rhythmicity. Here, we show that the limpet Cellana rota exhibits robust tidally rhythmic behaviour and gene expression. We assembled a de-novo transcriptome, identifying novel tidal, along with known circadian clock genes. Surprisingly, most of the putative circadian clock genes, lack a typical rhythmicity. We identified numerous tidally rhythmic genes and pathways commonly associated with the circadian clock. We show that not only is the behaviour of an intertidal organism in tune with the tides, but so too are many of its genes and pathways. These findings highlight the plasticity of biological timekeeping in nature, strengthening the growing notion that the role of ‘canonical’ circadian clock genes may be more fluid than previously thought, as exhibited in an organism which has evolved in an environment where tidal oscillations are the dominant driving force.
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  • 21
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    Network-guided genomic and metagenomic analysis of the faecal microbiota of the critically endangered kakapo (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 8128, doi:10.1038/s41598-018-26484-4.
    Description: The kakapo is a critically endangered, herbivorous parrot endemic to New Zealand. The kakapo hindgut hosts a dense microbial community of low taxonomic diversity, typically dominated by Escherichia fergusonii, and has proven to be a remarkably stable ecosystem, displaying little variation in core membership over years of study. To elucidate mechanisms underlying this robustness, we performed 16S rRNA gene-based co-occurrence network analysis to identify potential interactions between E. fergusonii and the wider bacterial community. Genomic and metagenomic sequencing were employed to facilitate interpretation of potential interactions observed in the network. E. fergusonii maintained very few correlations with other members of the microbiota, and isolates possessed genes for the generation of energy from a wide range of carbohydrate sources, including plant fibres such as cellulose. We surmise that this dominant microorganism is abundant not due to ecological interaction with other members of the microbiota, but its ability to metabolise a wide range of nutrients in the gut. This research represents the first concerted effort to understand the functional roles of the kakapo microbiota, and leverages metagenomic data to contextualise co-occurrence patterns. By combining these two techniques we provide a means for studying the diversity-stability hypothesis in the context of bacterial ecosystems.
    Description: This work was supported by funding from the Department of Conservation (DOC) as well as a University of Auckland Faculty Research Development Fund grant (9841 3626187) to MWT, and a University of Auckland Doctoral Scholarship to DWW.
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    Mesoscale eddies influence the movements of mature female white sharks in the Gulf Stream and Sargasso Sea (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 7363, doi:10.1038/s41598-018-25565-8.
    Description: Satellite-tracking of mature white sharks (Carcharodon carcharias) has revealed open-ocean movements spanning months and covering tens of thousands of kilometers. But how are the energetic demands of these active apex predators met as they leave coastal areas with relatively high prey abundance to swim across the open ocean through waters often characterized as biological deserts? Here we investigate mesoscale oceanographic variability encountered by two white sharks as they moved through the Gulf Stream region and Sargasso Sea in the North Atlantic Ocean. In the vicinity of the Gulf Stream, the two mature female white sharks exhibited extensive use of the interiors of clockwise-rotating anticyclonic eddies, characterized by positive (warm) temperature anomalies. One tagged white shark was also equipped with an archival tag that indicated this individual made frequent dives to nearly 1,000 m in anticyclones, where it was presumably foraging on mesopelagic prey. We propose that warm temperature anomalies in anticyclones make prey more accessible and energetically profitable to adult white sharks in the Gulf Stream region by reducing the physiological costs of thermoregulation in cold water. The results presented here provide valuable new insight into open ocean habitat use by mature, female white sharks that may be applicable to other large pelagic predators.
    Description: This work was supported by the WHOI Ocean Life Institute and awards from NASA and NSF.
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    Author correction : Meridional heat transport variability induced by mesoscale processes in the subpolar North Atlantic (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 2398, doi:10.1038/s41467-018-04809-1.
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    Keystone Arctic paleoceanographic proxy association with putative methanotrophic bacteria (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 10610, doi:10.1038/s41598-018-28871-3.
    Description: Foraminifera in sediments exposed to gas-hydrate dissociation are not expected to have cellular adaptations that facilitate inhabitation of chemosynthesis-based ecosystems because, to date, there are no known endemic seep foraminifera. To establish if foraminifera inhabit sediments impacted by gas-hydrate dissociation, we examined the cellular ultrastructure of Melonis barleeanus (Williamson, 1858) from the Vestnesa gas hydrate province (Arctic Ocean, west of Svalbard at ~79 °N; ~1200-m depth; n = 4). From sediments with gas hydrate indicators, living M. barleeanus had unusual pore plugs composed of a thick, fibrous meshwork; mitochondria were concentrated at the cell periphery, under pore plugs. While there was no evidence of endosymbioses with prokaryotes, most M. barleeanus specimens were associated with what appear to be Type I methanotrophic bacteria. One foraminifer had a particularly large bolus of these microbes concentrated near its aperture. This is the first documented instance of bona fide living M. barleeanus in gas-hydrate sediments and first documentation of a foraminifer living in close association with putative methanotrophs. Our observations have implications to paleoclimate records utilizing this foundational foraminiferal species.
    Description: JMB was funded by a WHOI Independent Study Award (Mellon Grant), with partial support from NSF grant OCE-1634469. GP and CAGE 15-2 cruise were supported by the Research Council of Norway through CAGE Center for Excellence in Arctic Gas Hydrate Environment and Climate project 223259 and NORCRUST (project number 255150).
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    The solute carrier SLC9C1 is a Na+/H+-exchanger gated by an S4-type voltage-sensor and cyclic-nucleotide binding (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 2809, doi:10.1038/s41467-018-05253-x.
    Description: Voltage-sensing (VSD) and cyclic nucleotide-binding domains (CNBD) gate ion channels for rapid electrical signaling. By contrast, solute carriers (SLCs) that passively redistribute substrates are gated by their substrates themselves. Here, we study the orphan sperm-specific solute carriers SLC9C1 that feature a unique tripartite structure: an exchanger domain, a VSD, and a CNBD. Voltage-clamp fluorimetry shows that SLC9C1 is a genuine Na+/H+ exchanger gated by voltage. The cellular messenger cAMP shifts the voltage range of activation. Mutations in the transport domain, the VSD, or the CNBD strongly affect Na+/H+ exchange, voltage gating, or cAMP sensitivity, respectively. Our results establish SLC9C1 as a phylogenetic chimaera that combines the ion-exchange mechanism of solute carriers with the gating mechanism of ion channels. Classic SLCs slowly readjust changes in the intra- and extracellular milieu, whereas voltage gating endows the Na+/H+ exchanger with the ability to produce a rapid pH response that enables downstream signaling events.
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    Sparsened neuronal activity in an optogenetically activated olfactory glomerulus (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 14955, doi:10.1038/s41598-018-33021-w.
    Description: Glomeruli are the functional units of olfactory information processing but little remains known about their individual unit function. This is due to their widespread activation by odor stimuli. We expressed channelrhodopsin-2 in a single olfactory sensory neuron type, and used laser stimulation and simultaneous in vivo calcium imaging to study the responses of a single glomerulus to optogenetic stimulation. Calcium signals in the neuropil of this glomerulus were representative of the sensory input and nearly identical if evoked by intensity-matched odor and laser stimuli. However, significantly fewer glomerular layer interneurons and olfactory bulb output neurons (mitral cells) responded to optogenetic versus odor stimuli, resulting in a small and spatially compact optogenetic glomerular unit response. Temporal features of laser stimuli were represented with high fidelity in the neuropil of the glomerulus and the mitral cells, but not in interneurons. Increases in laser stimulus intensity were encoded by larger signal amplitudes in all compartments of the glomerulus, and by the recruitment of additional interneurons and mitral cells. No spatial expansion of the glomerular unit response was observed in response to stronger input stimuli. Our data are among the first descriptions of input-output transformations in a selectively activated olfactory glomerulus.
    Description: Funded by the World Class Institute/National Research Foundation of Korea (KRF: WCI 2009-003) and NIH: DC005259 and NS099691 grants.
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    Sulphur and carbon cycling in the subduction zone mélange (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 15517, doi:10.1038/s41598-018-33610-9.
    Description: Subduction zones impose an important control on the geochemical cycling between the surficial and internal reservoirs of the Earth. Sulphur and carbon are transferred into Earth’s mantle by subduction of pelagic sediments and altered oceanic lithosphere. Release of oxidizing sulphate- and carbonate-bearing fluids modifies the redox state of the mantle and the chemical budget of subduction zones. Yet, the mechanisms of sulphur and carbon cycling within subduction zones are still unclear, in part because data are typically derived from arc volcanoes where fluid compositions are modified during transport through the mantle wedge. We determined the bulk rock elemental, and sulphur and carbon isotope compositions of exhumed ultramafic and metabasic rocks from Syros, Greece. Comparison of isotopic data with major and trace element compositions indicates seawater alteration and chemical exchange with sediment-derived fluids within the subduction zone channel. We show that small bodies of detached slab material are subject to metasomatic processes during exhumation, in contrast to large sequences of obducted ophiolitic sections that retain their seafloor alteration signatures. In particular, fluids circulating along the plate interface can cause sulphur mobilization during several stages of exhumation within high-pressure rocks. This takes place more pervasively in serpentinites compared to mafic rocks.
    Description: This project was supported by NSF-EAR grant 1324566 to E.M.S. and B.C.G., and NSF EAR award 1250470 to M.J.C. We acknowledge support by the German Research Foundation and the Open Access Publication Fund of the Freie Universität Berlin.
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    An atmospheric chronology for the glacial-deglacial Eastern Equatorial Pacific (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 3077, doi:10.1038/s41467-018-05574-x.
    Description: Paleoclimate reconstructions are only as good as their chronology. In particular, different chronological assumptions for marine sediment cores can lead to different reconstructions of ocean ventilation age and atmosphere−ocean carbon exchange history. Here we build the first high-resolution chronology that is free of the dating uncertainties common in marine sediment records, based on radiocarbon dating twigs found with computed tomography scans in two cores from the Eastern Equatorial Pacific (EEP). With this accurate chronology, we show that the ventilation ages of the EEP thermocline and intermediate waters were similar to today during the Last Glacial Maximum and deglaciation, in contradiction with previous studies. Our results suggest that the glacial respired carbon pool in the EEP was not significantly older than today, and that the deglacial strengthening of the equatorial Pacific carbon source was probably driven by low-latitude processes rather than an increased subsurface supply of upwelled carbon from high-latitude oceans.
    Description: The lab work at NOSAMS was supported by Ocean Ventures Fund from WHOI and an NOSAMS graduate internship granted to N.Z
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    Author Correction : Accuracy and precision of tidal wetland soil carbon mapping in the conterminous United States (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 15219, doi:10.1038/s41598-018-33283-4.
    Description: This Article corrects an error in Equation 1
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    Contribution of hurricane-induced sediment resuspension to coastal oxygen dynamics (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 15740, doi:10.1038/s41598-018-33640-3.
    Description: Hurricanes passing over the ocean can mix the water column down to great depths and resuspend massive volumes of sediments on the continental shelves. Consequently, organic carbon and reduced inorganic compounds associated with these sediments can be resuspended from anaerobic portions of the seabed and re-exposed to dissolved oxygen (DO) in the water column. This process can drive DO consumption as sediments become oxidized. Previous studies have investigated the effect of hurricanes on DO in different coastal regions of the world, highlighting the alleviation of hypoxic conditions by extreme winds, which drive vertical mixing and re-aeration of the water column. However, the effect of hurricane-induced resuspended sediments on DO has been neglected. Here, using a diverse suite of datasets for the northern Gulf of Mexico, we find that in the few days after a hurricane passage, decomposition of resuspended shelf sediments consumes up to a fifth of the DO added to the bottom of the water column during vertical mixing. Despite uncertainty in this value, we highlight the potential significance of this mechanism for DO dynamics. Overall, sediment resuspension likely occurs over all continental shelves affected by tropical cyclones, potentially impacting global cycles of marine DO and carbon.
    Description: Support for J. Moriarty was provided by the USGS Mendenhall Program.
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    Arc-like magmas generated by mélange-peridotite interaction in the mantle wedge (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 2864, doi:10.1038/s41467-018-05313-2.
    Description: The mechanisms of transfer of crustal material from the subducting slab to the overlying mantle wedge are still debated. Mélange rocks, formed by mixing of sediments, oceanic crust, and ultramafics along the slab-mantle interface, are predicted to ascend as diapirs from the slab-top and transfer their compositional signatures to the source region of arc magmas. However, the compositions of melts that result from the interaction of mélanges with a peridotite wedge remain unknown. Here we present experimental evidence that melting of peridotite hybridized by mélanges produces melts that carry the major and trace element abundances observed in natural arc magmas. We propose that differences in nature and relative contributions of mélanges hybridizing the mantle produce a range of primary arc magmas, from tholeiitic to calc-alkaline. Thus, assimilation of mélanges into the wedge may play a key role in transferring subduction signatures from the slab to the source of arc magmas.
    Description: This project was supported by the WHOI Ocean Exploration Institute (OEI) 27071178 to V.L.R.; Previous related projects were supported by NSF EAR-1348063 and WHOI OEI to H.R.M.
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    GABA promotes survival and axonal regeneration in identifiable descending neurons after spinal cord injury in larval lampreys (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Cell Death and Disease 9 (2018): 663, doi:10.1038/s41419-018-0704-9.
    Description: The poor regenerative capacity of descending neurons is one of the main causes of the lack of recovery after spinal cord injury (SCI). Thus, it is of crucial importance to find ways to promote axonal regeneration. In addition, the prevention of retrograde degeneration leading to the atrophy/death of descending neurons is an obvious prerequisite to activate axonal regeneration. Lampreys show an amazing regenerative capacity after SCI. Recent histological work in lampreys suggested that GABA, which is massively released after a SCI, could promote the survival of descending neurons. Here, we aimed to study if GABA, acting through GABAB receptors, promotes the survival and axonal regeneration of descending neurons of larval sea lampreys after a complete SCI. First, we used in situ hybridization to confirm that identifiable descending neurons of late-stage larvae express the gabab1 subunit of the GABAB receptor. We also observed an acute increase in the expression of this subunit in descending neurons after SCI, which further supported the possible role of GABA and GABAB receptors in promoting the survival and regeneration of these neurons. So, we performed gain and loss of function experiments to confirm this hypothesis. Treatments with GABA and baclofen (GABAB agonist) significantly reduced caspase activation in descending neurons 2 weeks after a complete SCI. Long-term treatments with GABOB (a GABA analogue) and baclofen significantly promoted axonal regeneration of descending neurons after SCI. These data indicate that GABAergic signalling through GABAB receptors promotes the survival and regeneration of descending neurons after SCI. Finally, we used morpholinos against the gabab1 subunit to knockdown the expression of the GABAB receptor in descending neurons. Long-term morpholino treatments caused a significant inhibition of axonal regeneration. This shows that endogenous GABA promotes axonal regeneration after a complete SCI in lampreys by activating GABAB receptors.
    Description: Spanish Ministry of Economy and Competitiveness and the European Regional Development Fund 2007–2013 (Grant number: BFU2014-56300-P) and Xunta de Galicia (Grant number: GPC2014/030). D.R.-S. was supported by a fellowship from EMBO (Ref.: 7010) to carry out a short-term stay at the laboratory of JRM. A.B.-I. was supported by a grant from the Xunta de Galicia (Grant number: 2016-PG008) and a grant from the crowdfunding platform Precipita (FECYT; Spanish Ministry of Economy and Competitiveness; grant number 2017-CP081).
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    Evidence of an active volcanic heat source beneath the Pine Island Glacier (2018)
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    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 2431, doi:10.1038/s41467-018-04421-3.
    Description: Tectonic landforms reveal that the West Antarctic Ice Sheet (WAIS) lies atop a major volcanic rift system. However, identifying subglacial volcanism is challenging. Here we show geochemical evidence of a volcanic heat source upstream of the fast-melting Pine Island Ice Shelf, documented by seawater helium isotope ratios at the front of the Ice Shelf cavity. The localization of mantle helium to glacial meltwater reveals that volcanic heat induces melt beneath the grounded glacier and feeds the subglacial hydrological network crossing the grounding line. The observed transport of mantle helium out of the Ice Shelf cavity indicates that volcanic heat is supplied to the grounded glacier at a rate of ~ 2500 ± 1700 MW, which is ca. half as large as the active Grimsvötn volcano on Iceland. Our finding of a substantial volcanic heat source beneath a major WAIS glacier highlights the need to understand subglacial volcanism, its hydrologic interaction with the marine margins, and its potential role in the future stability of the WAIS.
    Description: This research was supported by the NSF Antarctic program through Award #1341630.
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    Millennial soil retention of terrestrial organic matter deposited in the Bengal Fan (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 11997, doi:10.1038/s41598-018-30091-8.
    Description: The abundance of organic carbon (OC) in vegetation and soils (~2,600 PgC) compared to carbon in the atmosphere (~830 PgC) highlights the importance of terrestrial OC in global carbon budgets. The residence time of OC in continental reservoirs, which sets the rates of carbon exchange between land and atmosphere, represents a key uncertainty in global carbon cycle dynamics. Retention of terrestrial OC can also distort bulk OC- and biomarker-based paleorecords, yet continental storage timescales remain poorly quantified. Using “bomb” radiocarbon (14C) from thermonuclear weapons testing as a tracer, we model leaf-wax fatty acid and bulk OC 14C signatures in a river-proximal marine sediment core from the Bay of Bengal in order to constrain OC storage timescales within the Ganges-Brahmaputra (G-B) watershed. Our model shows that 79–83% of the leaf-waxes in this core were stored in continental reservoirs for an average of 1,000–1,200 calendar years, while the remainder was stored for an average of 15 years. This age structure distorts high-resolution organic paleorecords across geologically rapid events, highlighting that compound-specific proxy approaches must consider storage timescales. Furthermore, these results show that future environmental change could destabilize large stores of old - yet reactive - OC currently stored in tropical basins.
    Description: We acknowledge funding support from the Agouron Institute Postdoctoral Fellowship (K.L.F), the US National Science Foundation (Awards: OCE-1333387 and OCE-13333826), the Investment in Science Fund given primarily by WHOI Trustee and Corporation Members, and the Swiss National Science Foundation (Award: 200020_163162).
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    Deep soils modify environmental consequences of increased nitrogen fertilizer use in intensifying Amazon agriculture (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 13478, doi:10.1038/s41598-018-31175-1.
    Description: Agricultural intensification offers potential to grow more food while reducing the conversion of native ecosystems to croplands. However, intensification also risks environmental degradation through emissions of the greenhouse gas nitrous oxide (N2O) and nitrate leaching to ground and surface waters. Intensively-managed croplands and nitrogen (N) fertilizer use are expanding rapidly in tropical regions. We quantified fertilizer responses of maize yield, N2O emissions, and N leaching in an Amazon soybean-maize double-cropping system on deep, highly-weathered soils in Mato Grosso, Brazil. Application of N fertilizer above 80 kg N ha−1 yr−1 increased maize yield and N2O emissions only slightly. Unlike experiences in temperate regions, leached nitrate accumulated in deep soils with increased fertilizer and conversion to cropping at N fertilization rates 〉80 kg N ha−1, which exceeded maize demand. This raises new questions about the capacity of tropical agricultural soils to store nitrogen, which may determine when and how much nitrogen impacts surface waters.
    Description: This project was supported by grants from NSF (DEB-1257944, DEB-1257391, DEB1457017, EF-1541770, EF-1655432, EF-1519342, IOS-1660034, IOS-1457662, and EAR-1739724) to M. Macedo, C. Neill, and M.T. Coe.
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    Inorganic carbon and nitrogen assimilation in cellular compartments of a benthic kleptoplastic foraminifer (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 10140, doi:10.1038/s41598-018-28455-1.
    Description: Haynesina germanica, an ubiquitous benthic foraminifer in intertidal mudflats, has the remarkable ability to isolate, sequester, and use chloroplasts from microalgae. The photosynthetic functionality of these kleptoplasts has been demonstrated by measuring photosystem II quantum efficiency and O2 production rates, but the precise role of the kleptoplasts in foraminiferal metabolism is poorly understood. Thus, the mechanism and dynamics of C and N assimilation and translocation from the kleptoplasts to the foraminiferal host requires study. The objective of this study was to investigate, using correlated TEM and NanoSIMS imaging, the assimilation of inorganic C and N (here ammonium, NH4+) in individuals of a kleptoplastic benthic foraminiferal species. H. germanica specimens were incubated for 20 h in artificial seawater enriched with H13CO3− and 15NH4+ during a light/dark cycle. All specimens (n = 12) incorporated 13C into their endoplasm stored primarily in the form of lipid droplets. A control incubation in darkness resulted in no 13C-uptake, strongly suggesting that photosynthesis is the process dominating inorganic C assimilation. Ammonium assimilation was observed both with and without light, with diffuse 15N-enrichment throughout the cytoplasm and distinct 15N-hotspots in fibrillar vesicles, electron-opaque bodies, tubulin paracrystals, bacterial associates, and, rarely and at moderate levels, in kleptoplasts. The latter observation might indicate that the kleptoplasts are involved in N assimilation. However, the higher N assimilation observed in the foraminiferal endoplasm incubated without light suggests that another cytoplasmic pathway is dominant, at least in darkness. This study clearly shows the advantage provided by the kleptoplasts as an additional source of carbon and provides observations of ammonium uptake by the foraminiferal cell.
    Description: This work was supported by the Swiss National Science Foundation (grant no. 200021_149333) and was part of the CNRS EC2CO-Lefe project ForChlo. It was also supported by the Region Pays de la Loire (Post-doc position of TJ, on FRESCO project) as well as the WHOI Robert W. Morse Chair for Excellence in Oceanography and The Investment in Science Fund at WHOI.
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    Multisensory and motor representations in rat oral somatosensory cortex (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 13556, doi:10.1038/s41598-018-31710-0.
    Description: In mammals, a complex array of oral sensors assess the taste, temperature and haptic properties of food. Although the representation of taste has been extensively studied in the gustatory cortex, it is unclear how the somatosensory cortex encodes information about the properties of oral stimuli. Moreover, it is poorly understood how different oral sensory modalities are integrated and how sensory responses are translated into oral motor actions. To investigate whether oral somatosensory cortex processes food-related sensations and movements, we performed in vivo whole-cell recordings and motor mapping experiments in rats. Neurons in oral somatosensory cortex showed robust post-synaptic and sparse action potential responses to air puffs. Membrane potential showed that cold water evoked larger responses than room temperature or hot water. Most neurons showed no clear tuning of responses to bitter, sweet and neutral gustatory stimuli. Finally, motor mapping experiments with histological verification revealed an initiation of movements related to food consumption behavior, such as jaw opening and tongue protrusions. We conclude that somatosensory cortex: (i) provides a representation of the temperature of oral stimuli, (ii) does not systematically encode taste information and (iii) influences orofacial movements related to food consummatory behavior.
    Description: This work was supported by the Marine Biological Laboratory, Humboldt Universität zu Berlin and Neurocure.
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    Oxidising agents in sub-arc mantle melts link slab devolatilisation and arc magmas (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 3500, doi:10.1038/s41467-018-05804-2.
    Description: Subduction zone magmas are more oxidised on eruption than those at mid-ocean ridges. This is attributed either to oxidising components, derived from subducted lithosphere (slab) and added to the mantle wedge, or to oxidation processes occurring during magma ascent via differentiation. Here we provide direct evidence for contributions of oxidising slab agents to melts trapped in the sub-arc mantle. Measurements of sulfur (S) valence state in sub-arc mantle peridotites identify sulfate, both as crystalline anhydrite (CaSO4) and dissolved SO42− in spinel-hosted glass (formerly melt) inclusions. Copper-rich sulfide precipitates in the inclusions and increased Fe3+/∑Fe in spinel record a S6+–Fe2+ redox coupling during melt percolation through the sub-arc mantle. Sulfate-rich glass inclusions exhibit high U/Th, Pb/Ce, Sr/Nd and δ34S (+ 7 to + 11‰), indicating the involvement of dehydration products of serpentinised slab rocks in their parental melt sources. These observations provide a link between liberated slab components and oxidised arc magmas.
    Description: We acknowledge financial support by the Australian Research Council (DE120100513 and DP120104240) and the ESRF for beam time (EC1061 and ES238).
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    Accuracy and precision of tidal wetland soil carbon mapping in the conterminous United States (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 9478, doi:10.1038/s41598-018-26948-7.
    Description: Tidal wetlands produce long-term soil organic carbon (C) stocks. Thus for carbon accounting purposes, we need accurate and precise information on the magnitude and spatial distribution of those stocks. We assembled and analyzed an unprecedented soil core dataset, and tested three strategies for mapping carbon stocks: applying the average value from the synthesis to mapped tidal wetlands, applying models fit using empirical data and applied using soil, vegetation and salinity maps, and relying on independently generated soil carbon maps. Soil carbon stocks were far lower on average and varied less spatially and with depth than stocks calculated from available soils maps. Further, variation in carbon density was not well-predicted based on climate, salinity, vegetation, or soil classes. Instead, the assembled dataset showed that carbon density across the conterminous united states (CONUS) was normally distributed, with a predictable range of observations. We identified the simplest strategy, applying mean carbon density (27.0 kg C m−3), as the best performing strategy, and conservatively estimated that the top meter of CONUS tidal wetland soil contains 0.72 petagrams C. This strategy could provide standardization in CONUS tidal carbon accounting until such a time as modeling and mapping advancements can quantitatively improve accuracy and precision.
    Description: Synthesis efforts were funded by NASA Carbon Monitoring System (CMS; NNH14AY67I), USGS LandCarbon and the Smithsonian Institution. J.R.H. was additionally supported by the NSF-funded Coastal Carbon Research Coordination Network while completing this manuscript (DEB-1655622). J.M.S. coring efforts were funded by NSF (EAR-1204079). B.P.H. coring efforts were funded by Earth Observatory (Publication Number 197).
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    Repeat bleaching of a central Pacific coral reef over the past six decades (1960–2016) (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Communications Biology 1 (2018): 177, doi:10.1038/s42003-018-0183-7.
    Description: The oceans are warming and coral reefs are bleaching with increased frequency and severity, fueling concerns for their survival through this century. Yet in the central equatorial Pacific, some of the world’s most productive reefs regularly experience extreme heat associated with El Niño. Here we use skeletal signatures preserved in long-lived corals on Jarvis Island to evaluate the coral community response to multiple successive heatwaves since 1960. By tracking skeletal stress band formation through the 2015-16 El Nino, which killed 95% of Jarvis corals, we validate their utility as proxies of bleaching severity and show that 2015-16 was not the first catastrophic bleaching event on Jarvis. Since 1960, eight severe (〉30% bleaching) and two moderate (〈30% bleaching) events occurred, each coinciding with El Niño. While the frequency and severity of bleaching on Jarvis did not increase over this time period, 2015–16 was unprecedented in magnitude. The trajectory of recovery of this historically resilient ecosystem will provide critical insights into the potential for coral reef resilience in a warming world.
    Description: Funding for this study was provided by National Science Foundation awards OCE 1537338, OCE 1605365, and OCE 1031971 to A.L.C., and the Robertson Foundation to A.L.C., National Science Foundation Graduate Research Fellowships to T.M.D. and A.E.A., and a National Defense Science and Engineering Graduate Fellowship to H.E.R.
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    Stable isotopic evidence of nitrogen sources and C4 metabolism driving the world’s largest macroalgal green tides in the Yellow Sea (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 17437, doi:10.1038/s41598-018-35309-3.
    Description: During recent years, rapid seasonal growth of macroalgae covered extensive areas within the Yellow Sea, developing the world’s most spatially extensive “green tide”. The remarkably fast accumulation of macroalgal biomass is the joint result of high nitrogen supplies in Yellow Sea waters, plus ability of the macroalgae to optionally use C4 photosynthetic pathways that facilitate rapid growth. Stable isotopic evidence shows that the high nitrogen supply is derived from anthropogenic sources, conveyed from watersheds via river discharges, and by direct atmospheric deposition. Wastewater and manures supply about half the nitrogen used by the macroalgae, fertiliser and atmospheric deposition each furnish about a quarter of the nitrogen in macroalgae. The massive green tides affecting the Yellow Sea are likely to increase, with significant current and future environmental and human consequences. Addressing these changing trajectories will demand concerted investment in new basic and applied research as the basis for developing management policies.
    Description: This work was supported by the State Key Project of Research and Development Plan (2016YFC1402106).
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    Daily changes in phytoplankton lipidomes reveal mechanisms of energy storage in the open ocean (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 5179, doi:10.1038/s41467-018-07346-z.
    Description: Sunlight is the dominant control on phytoplankton biosynthetic activity, and darkness deprives them of their primary external energy source. Changes in the biochemical composition of phytoplankton communities over diel light cycles and attendant consequences for carbon and energy flux in environments remain poorly elucidated. Here we use lipidomic data from the North Pacific subtropical gyre to show that biosynthesis of energy-rich triacylglycerols (TAGs) by eukaryotic nanophytoplankton during the day and their subsequent consumption at night drives a large and previously uncharacterized daily carbon cycle. Diel oscillations in TAG concentration comprise 23 ± 11% of primary production by eukaryotic nanophytoplankton representing a global flux of about 2.4 Pg C yr−1. Metatranscriptomic analyses of genes required for TAG biosynthesis indicate that haptophytes and dinoflagellates are active members in TAG production. Estimates suggest that these organisms could contain as much as 40% more calories at sunset than at sunrise due to TAG production.
    Description: This work was supported by a grant from the Simons Foundation, and is a contribution of the Simons Collaboration on Ocean Processes and Ecology (SCOPE award # 329108, B.A.S.V.M.). K.W.B. was further supported by the Postdoctoral Scholarship Program at Woods Hole Oceanographic Institution & U.S. Geological Survey.
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    Southern Hemisphere forcing of South Asian monsoon precipitation over the past ~1 million years (2018)
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    Publication Date: 2022-05-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 4702, doi:10.1038/s41467-018-07076-2.
    Description: The orbital-scale timing of South Asian monsoon (SAM) precipitation is poorly understood. Here we present new SST and seawater δ18O (δ18Osw) records from the Bay of Bengal, the core convective region of the South Asian monsoon, over the past 1 million years. Our records reveal that SAM precipitation peaked in the precession band ~9 kyrs after Northern Hemisphere summer insolation maxima, in phase with records of SAM winds in the Arabian Sea and eastern Indian Ocean. Precession-band variance, however, accounts for ~30% of the total variance of SAM precipitation while it was either absent or dominant in records of the East Asian monsoon (EAM). This and the observation that SAM precipitation was phase locked with obliquity minima and was sensitive to Southern Hemisphere warming provides clear evidence that SAM and EAM precipitation responded differently to orbital forcing and highlights the importance of internal processes forcing monsoon variability.
    Description: This study was partly funded by the German Science Foundation, DFG, IODP Priority Program (grant HA 5751/3-1).
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    Conduit stability effects on intensity and steadiness of explosive eruptions (2018)
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    Publication Date: 2019-10-24
    Description: Conduit geometry affects magma ascent dynamics and, consequently, the style and evolution of volcanic eruptions. However, despite geological evidences support the occurrence of conduit widening during most volcanic eruptions, the factors controlling conduit enlargement are still unclear, and the effects of syn-eruptive variations of conduit geometry have not been investigated in depth yet. Based on numerical modeling and the application of appropriate stability criteria, we found out a strong relationship between magma rheology and conduit stability, with significant effects on eruptive dynamics. Indeed, in order to be stable, conduits feeding dacitic/rhyolitic eruptions need larger diameters respect to their phonolitic/trachytic counterparts, resulting in the higher eruption rates commonly observed in dacitic/rhyolitic explosive events. Thus, in addition to magma source conditions and viscosity-dependent efficiency for outgassing, we suggest that typical eruption rates for different magma types are also controlled by conduit stability. Results are consistent with a compilation of volcanological data and selected case studies. As stability conditions are not uniform along the conduit, widening is expected to vary in depth, and three axisymmetric geometries with depth-dependent radii were investigated. They are able to produce major modifications in eruptive parameters, suggesting that eruptive dynamics is influenced by syn-eruptive changes in conduit geometry.
    Description: Published
    Description: 4125
    Description: 5V. Processi eruttivi e post-eruttivi
    Description: JCR Journal
    Keywords: Volcanology ; Magma Ascent ; 04.08. Volcanology
    Repository Name: Istituto Nazionale di Geofisica e Vulcanologia (INGV)
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    Continuous flow of Upper Labrador Sea Water around Cape Hatteras (2018)
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    Publication Date: 2022-08-25
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 4494, doi:10.1038/s41598-018-22758-z.
    Description: Six velocity sections straddling Cape Hatteras show a deep counterflow rounding the Cape wedged beneath the poleward flowing Gulf Stream and the continental slope. This counterflow is likely the upper part of the equatorward-flowing Deep Western Boundary Current (DWBC). Hydrographic data suggest that the equatorward flow sampled by the shipboard 38 kHz ADCP comprises the Upper Labrador Sea Water (ULSW) layer and top of the Classical Labrador Sea Water (CLSW) layer. Continuous DWBC flow around the Cape implied by the closely-spaced velocity sections here is also corroborated by the trajectory of an Argo float. These findings contrast with previous studies based on floats and tracers in which the lightest DWBC constituents did not follow the boundary to cross under the Gulf Stream at Cape Hatteras but were diverted into the interior as the DWBC encountered the Gulf Stream in the crossover region. Additionally, our six quasi-synoptic velocity sections confirm that the Gulf Stream intensified markedly at that time as it approached the separation point and flowed into deeper waters. Downstream increases were observed not only in the poleward transport across the sections but also in the current’s maximum speed.
    Description: This research was supported by NSF through OCE-1558521 and OCE-1332667 and by a grant from North Carolina to the Renewable Ocean Energy Program.
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    Toward a consistent modeling framework to assess multi-sectoral climate impacts (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 660, doi:10.1038/s41467-018-02984-9.
    Description: Efforts to estimate the physical and economic impacts of future climate change face substantial challenges. To enrich the currently popular approaches to impact analysis—which involve evaluation of a damage function or multi-model comparisons based on a limited number of standardized scenarios—we propose integrating a geospatially resolved physical representation of impacts into a coupled human-Earth system modeling framework. Large internationally coordinated exercises cannot easily respond to new policy targets and the implementation of standard scenarios across models, institutions and research communities can yield inconsistent estimates. Here, we argue for a shift toward the use of a self-consistent integrated modeling framework to assess climate impacts, and discuss ways the integrated assessment modeling community can move in this direction. We then demonstrate the capabilities of such a modeling framework by conducting a multi-sectoral assessment of climate impacts under a range of consistent and integrated economic and climate scenarios that are responsive to new policies and business expectations.
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    Multi-modal survey of Adélie penguin mega-colonies reveals the Danger Islands as a seabird hotspot (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 3926, doi:10.1038/s41598-018-22313-w.
    Description: Despite concerted international effort to track and interpret shifts in the abundance and distribution of Adélie penguins, large populations continue to be identified. Here we report on a major hotspot of Adélie penguin abundance identified in the Danger Islands off the northern tip of the Antarctic Peninsula (AP). We present the first complete census of Pygoscelis spp. penguins in the Danger Islands, estimated from a multi-modal survey consisting of direct ground counts and computer-automated counts of unmanned aerial vehicle (UAV) imagery. Our survey reveals that the Danger Islands host 751,527 pairs of Adélie penguins, more than the rest of AP region combined, and include the third and fourth largest Adélie penguin colonies in the world. Our results validate the use of Landsat medium-resolution satellite imagery for the detection of new or unknown penguin colonies and highlight the utility of combining satellite imagery with ground and UAV surveys. The Danger Islands appear to have avoided recent declines documented on the Western AP and, because they are large and likely to remain an important hotspot for avian abundance under projected climate change, deserve special consideration in the negotiation and design of Marine Protected Areas in the region.
    Description: We gratefully acknowledge the financial support of the Dalio Foundation, Inc. through the Dalio Explore Fund, which provided all the financing for the Danger Island Expedition. We would like to thank additional support for analysis from the National Science Foundation (NSF PLR&GSS 1255058 - H.J.L. and P.M.; NSF PLR 1443585 – M.J.P.) and the National Aeronautical and Space Administration (NNX14AC32G; H.J.L. and M.S.). Geospatial support for the analysis of high resolution satellite imagery provided by the Polar Geospatial Center under NSF PLR awards 1043681 & 1559691.
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    ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 7 (2017): 115, doi:10.1038/s41598-017-00091-1.
    Description: Mutations in Fused in Sarcoma/Translocated in Liposarcoma (FUS) cause familial forms of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by progressive axonal degeneration mainly affecting motor neurons. Evidence from transgenic mouse models suggests mutant forms of FUS exert an unknown gain-of-toxic function in motor neurons, but mechanisms underlying this effect remain unknown. Towards this end, we studied the effect of wild type FUS (FUS WT) and three ALS-linked variants (G230C, R521G and R495X) on fast axonal transport (FAT), a cellular process critical for appropriate maintenance of axonal connectivity. All ALS-FUS variants impaired anterograde and retrograde FAT in squid axoplasm, whereas FUS WT had no effect. Misfolding of mutant FUS is implicated in this process, as the molecular chaperone Hsp110 mitigated these toxic effects. Interestingly, mutant FUS-induced impairment of FAT in squid axoplasm and of axonal outgrowth in mammalian primary motor neurons involved aberrant activation of the p38 MAPK pathway, as also reported for ALS-linked forms of Cu, Zn superoxide dismutase (SOD1). Accordingly, increased levels of active p38 MAPK were detected in post-mortem human ALS-FUS brain tissues. These data provide evidence for a novel gain-of-toxic function for ALS-linked FUS involving p38 MAPK activation.
    Description: We are grateful for funding from NIH/NINDS (R01 NS078145, R01 NS090352, and R21 NS091860 to D.A.B., R01 NS066942A and R21 NS096642 to G.M., R01NS023868 and R01NS041170 to S.T.B.), the ALS Therapy Alliance/CVS Pharmacy (to D.A.B. and G.M.) and the ALS Association (to C.F. and J.M.).
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    Meridional heat transport variability induced by mesoscale processes in the subpolar North Atlantic (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 1124, doi:10.1038/s41467-018-03134-x.
    Description: The ocean’s role in global climate change largely depends on its heat transport. Therefore, understanding the oceanic meridional heat transport (MHT) variability is a fundamental issue. Prevailing observational and modeling evidence suggests that MHT variability is primarily determined by the large-scale ocean circulation. Here, using new in situ observations in the eastern subpolar North Atlantic Ocean and an eddy-resolving numerical model, we show that energetic mesoscale eddies with horizontal scales of about 10–100 km profoundly modulate MHT variability on time scales from intra-seasonal to interannual. Our results reveal that the velocity changes due to mesoscale processes produce substantial variability for the MHT regionally (within sub-basins) and the subpolar North Atlantic as a whole. The findings have important implications for understanding the mechanisms for poleward heat transport variability in the subpolar North Atlantic Ocean, a key region for heat and carbon sequestration, ice–ocean interaction, and biological productivity.
    Description: J.Z. was financially supported by the Postdoctoral Scholar Program at WHOI, with funding provided by the Ocean and Climate Change Institute. This work was also supported by the US National Science Foundation (OCE-1258823 and OCE-1634886), as well as by China’s national key research and development projects (2016YFA0601803), the National Natural Science Foundation of China (41521091 and U1606402), the Qingdao National Laboratory for Marine Science and Technology (2015ASKJ01), and the Fundamental Research Funds for the Central Universities (201424001 and 201362048).
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    Highly conserved molecular pathways, including Wnt signaling, promote functional recovery from spinal cord injury in lampreys (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 742, doi:10.1038/s41598-017-18757-1.
    Description: In mammals, spinal cord injury (SCI) leads to dramatic losses in neurons and synaptic connections, and consequently function. Unlike mammals, lampreys are vertebrates that undergo spontaneous regeneration and achieve functional recovery after SCI. Therefore our goal was to determine the complete transcriptional responses that occur after SCI in lampreys and to identify deeply conserved pathways that promote regeneration. We performed RNA-Seq on lamprey spinal cord and brain throughout the course of functional recovery. We describe complex transcriptional responses in the injured spinal cord, and somewhat surprisingly, also in the brain. Transcriptional responses to SCI in lampreys included transcription factor networks that promote peripheral nerve regeneration in mammals such as Atf3 and Jun. Furthermore, a number of highly conserved axon guidance, extracellular matrix, and proliferation genes were also differentially expressed after SCI in lampreys. Strikingly, ~3% of differentially expressed transcripts belonged to the Wnt pathways. These included members of the Wnt and Frizzled gene families, and genes involved in downstream signaling. Pharmacological inhibition of Wnt signaling inhibited functional recovery, confirming a critical role for this pathway. These data indicate that molecular signals present in mammals are also involved in regeneration in lampreys, supporting translational relevance of the model.
    Description: We gratefully acknowledge support from the National Institutes of Health (R03NS078519 to OB; R01GM104123 to JJS; R01NS078165 to JRM), The Feinstein Institute for Medical Research and The Marine Biological Laboratory, including the Charles Evans Foundation Research Award, the Albert and Ellen Grass Foundation Faculty Research Award, and The Eugene and Millicent Bell Fellowship Fund in Tissue Engineering.
    Keywords: Computational biology and bioinformatics ; Gene expression ; Spinal cord injury
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    High resolution time series reveals cohesive but short-lived communities in coastal plankton (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 266, doi:10.1038/s41467-017-02571-4.
    Description: Because microbial plankton in the ocean comprise diverse bacteria, algae, and protists that are subject to environmental forcing on multiple spatial and temporal scales, a fundamental open question is to what extent these organisms form ecologically cohesive communities. Here we show that although all taxa undergo large, near daily fluctuations in abundance, microbial plankton are organized into clearly defined communities whose turnover is rapid and sharp. We analyze a time series of 93 consecutive days of coastal plankton using a technique that allows inference of communities as modular units of interacting taxa by determining positive and negative correlations at different temporal frequencies. This approach shows both coordinated population expansions that demarcate community boundaries and high frequency of positive and negative associations among populations within communities. Our analysis thus highlights that the environmental variability of the coastal ocean is mirrored in sharp transitions of defined but ephemeral communities of organisms.
    Description: This work was supported by grants from the U.S. National Science Foundation (OCE-1441943) to M.F.P. and the U.S. Department of Energy (DE-SC0008743) to M.F.P. and E.J.A. A.M.M.-P. was partially supported by the Ramon Areces foundation through a postdoctoral fellowship. D.J.M. was supported by the U.S. National Science Foundation (OCE-1314642) and National Institute of Environmental Health Sciences (1P01ES021923-01) through the Woods Hole Center for Oceans and Human Health.
    Keywords: Marine biology ; Microbial ecology
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    Tectonically-triggered sediment and carbon export to the Hadal zone (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 121, doi:10.1038/s41467-017-02504-1.
    Description: Sediments in deep ocean trenches may contain crucial information on past earthquake history and constitute important sites of carbon burial. Here we present 14C data on bulk organic carbon (OC) and its thermal decomposition fractions produced by ramped pyrolysis/oxidation for a core retrieved from the 〉7.5 km-deep Japan Trench. High-resolution 14C measurements, coupled with distinctive thermogram characteristics of OC, reveal hemipelagic sedimentation interrupted by episodic deposition of pre-aged OC in the trench. Low δ13C values and diverse 14C ages of thermal fractions imply that the latter material originates from the adjacent margin, and the co-occurrence of pre-aged OC with intervals corresponding to known earthquake events implies tectonically triggered, gravity-flow-driven supply. We show that 14C ages of thermal fractions can yield valuable chronological constraints on sedimentary sequences. Our findings shed new light on links between tectonically driven sedimentological processes and marine carbon cycling, with implications for carbon dynamics in hadal environments.
    Description: This study is supported by Doc.Mobility Fellowship (P1EZP2_159064) (R.B.) from the Swiss National Science Foundation (SNSF). This work is also supported by SNF “CAPS-LOCK” project 200021_140850 (T.I.E.), by SNSF grant (133481) (M.S.), and Austrian Science Foundation (P 29678-N28) (M.S.).
    Keywords: Carbon cycle ; Sedimentology
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    Microvillar and ciliary defects in zebrafish lacking an actin-binding bioactive peptide amidating enzyme (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 8 (2018): 4547, doi:10.1038/s41598-018-22732-9.
    Description: The assembly of membranous extensions such as microvilli and cilia in polarized cells is a tightly regulated, yet poorly understood, process. Peptidylglycine α-amidating monooxygenase (PAM), a membrane enzyme essential for the synthesis of amidated bioactive peptides, was recently identified in motile and non-motile (primary) cilia and has an essential role in ciliogenesis in Chlamydomonas, Schmidtea and mouse. In mammalian cells, changes in PAM levels alter secretion and organization of the actin cytoskeleton. Here we show that lack of Pam in zebrafish recapitulates the lethal edematous phenotype observed in Pam−/− mice and reveals additional defects. The pam−/− zebrafish embryos display an initial striking loss of microvilli and subsequently impaired ciliogenesis in the pronephros. In multiciliated mouse tracheal epithelial cells, vesicular PAM staining colocalizes with apical actin, below the microvilli. In PAM-deficient Chlamydomonas, the actin cytoskeleton is dramatically reorganized, and expression of an actin paralogue is upregulated. Biochemical assays reveal that the cytosolic PAM C-terminal domain interacts directly with filamentous actin but does not alter the rate of actin polymerization or disassembly. Our results point to a critical role for PAM in organizing the actin cytoskeleton during development, which could in turn impact both microvillus formation and ciliogenesis.
    Description: This study was supported by grants DK032949 (to BAE and REM), DK044464 (to JDG) and GM051293 (to SMK) from the National Institutes of Health.
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    A dynamic microbial community with high functional redundancy inhabits the cold, oxic subseafloor aquifer (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in The ISME Journal 12 (2018): 1-16, doi:10.1038/ismej.2017.187.
    Description: The rock-hosted subseafloor crustal aquifer harbors a reservoir of microbial life that may influence global marine biogeochemical cycles. Here we utilized metagenomic libraries of crustal fluid samples from North Pond, located on the flanks of the Mid-Atlantic Ridge, a site with cold, oxic subseafloor fluid circulation within the upper basement to query microbial diversity. Twenty-one samples were collected during a 2-year period to examine potential microbial metabolism and community dynamics. We observed minor changes in the geochemical signatures over the 2 years, yet the microbial community present in the crustal fluids underwent large shifts in the dominant taxonomic groups. An analysis of 195 metagenome-assembled genomes (MAGs) were generated from the data set and revealed a connection between litho- and autotrophic processes, linking carbon fixation to the oxidation of sulfide, sulfur, thiosulfate, hydrogen, and ferrous iron in members of the Proteobacteria, specifically the Alpha-, Gamma- and Zetaproteobacteria, the Epsilonbacteraeota and the Planctomycetes. Despite oxic conditions, analysis of the MAGs indicated that members of the microbial community were poised to exploit hypoxic or anoxic conditions through the use of microaerobic cytochromes, such as cbb3- and bd-type cytochromes, and alternative electron acceptors, like nitrate and sulfate. Temporal and spatial trends from the MAGs revealed a high degree of functional redundancy that did not correlate with the shifting microbial community membership, suggesting functional stability in mediating subseafloor biogeochemical cycles. Collectively, the repeated sampling at multiple sites, together with the successful binning of hundreds of genomes, provides an unprecedented data set for investigation of microbial communities in the cold, oxic crustal aquifer.
    Description: This work was supported by NSF OCE1062006 to JAH and NSF OCE1061827 to BTG. The Gordon and Betty Moore Foundation sponsored most of the observatory components at North Pond through grant GBMF1609. The Center for Dark Energy Biosphere Investigations (C-DEBI) (OCE-0939564), a National Science Foundation-funded Science and Technology Centers of Excellence also supported the participation of CGW, JAH and BJT.
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    Author Correction : Spiraling pathways of global deep waters to the surface of the Southern Ocean (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 209, doi:10.1038/s41467-017-02105-y.
    Description: Correction to: Nature Communications 8:172 https://doi.org/10.1038/s41467-017-00197-0; Article published online: 2 August 2017
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    Publisher Correction : Pelagic barite precipitation at micromolar ambient sulfate (2018)
    Nature Publishing Group
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2018. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Nature Communications 9 (2018): 305, doi:10.1038/s41467-017-02701-y.
    Description: Correction to: Nature Communications https://doi.org/10.1038/s41467-017-01229-5, Article published online 07 November 2017
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    Recurrent patterns of microdiversity in a temperate coastal marine environment (2018)
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    Publication Date: 2022-05-26
    Description: © The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in The ISME Journal 12 (2018): 237–252, doi:10.1038/ismej.2017.165.
    Description: Temperate coastal marine environments are replete with complex biotic and abiotic interactions that are amplified during spring and summer phytoplankton blooms. During these events, heterotrophic bacterioplankton respond to successional releases of dissolved organic matter as algal cells are lysed. Annual seasonal shifts in the community composition of free-living bacterioplankton follow broadly predictable patterns, but whether similar communities respond each year to bloom disturbance events remains unknown owing to a lack of data sets, employing high-frequency sampling over multiple years. We capture the fine-scale microdiversity of these events with weekly sampling using a high-resolution method to discriminate 16S ribosomal RNA gene amplicons that are 〉99% identical. Furthermore, we used 2 complete years of data to facilitate identification of recurrent sub-networks of co-varying microbes. We demonstrate that despite inter-annual variation in phytoplankton blooms and despite the dynamism of a coastal–oceanic transition zone, patterns of microdiversity are recurrent during both bloom and non-bloom conditions. Sub-networks of co-occurring microbes identified reveal that correlation structures between community members appear quite stable in a seasonally driven response to oligotrophic and eutrophic conditions.
    Description: PLB is supported by the European Research Council Advanced Investigator grant ABYSS 294757 to Antje Boetius. AF-G is supported by the European Union’s Horizon 2020 research and innovation program (Blue Growth: Unlocking the potential of Seas and Oceans) under grant agreement no. (634486) (project acronym INMARE). This study was funded by the Max Planck Society. Further support by the Department of Energy Joint Genome Institute (CSP COGITO) and DFG (FOR2406) is acknowledged by HT (TE 813/2-1) and RA (Am 73/9-1).
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    Genes, Vol. 9, Pages 103: Microfluidic Devices for Drug Delivery Systems and Drug Screening (2018)
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    Publication Date: 2018-02-17
    Description: Genes, Vol. 9, Pages 103: Microfluidic Devices for Drug Delivery Systems and Drug Screening Genes doi: 10.3390/genes9020103 Authors: Samar Damiati Uday B. Kompella Safa A. Damiati Rimantas Kodzius Microfluidic devices present unique advantages for the development of efficient drug carrier particles, cell-free protein synthesis systems, and rapid techniques for direct drug screening. Compared to bulk methods, by efficiently controlling the geometries of the fabricated chip and the flow rates of multiphase fluids, microfluidic technology enables the generation of highly stable, uniform, monodispersed particles with higher encapsulation efficiency. Since the existing preclinical models are inefficient drug screens for predicting clinical outcomes, microfluidic platforms might offer a more rapid and cost-effective alternative. Compared to 2D cell culture systems and in vivo animal models, microfluidic 3D platforms mimic the in vivo cell systems in a simple, inexpensive manner, which allows high throughput and multiplexed drug screening at the cell, organ, and whole-body levels. In this review, the generation of appropriate drug or gene carriers including different particle types using different configurations of microfluidic devices is highlighted. Additionally, this paper discusses the emergence of fabricated microfluidic cell-free protein synthesis systems for potential use at point of care as well as cell-, organ-, and human-on-a-chip models as smart, sensitive, and reproducible platforms, allowing the investigation of the effects of drugs under conditions imitating the biological system.
    Electronic ISSN: 2073-4425
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    Genes, Vol. 9, Pages 102: Dietary Fiber Treatment Corrects the Composition of Gut Microbiota, Promotes SCFA Production, and Suppresses Colon Carcinogenesis (2018)
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    Publication Date: 2018-02-17
    Description: Genes, Vol. 9, Pages 102: Dietary Fiber Treatment Corrects the Composition of Gut Microbiota, Promotes SCFA Production, and Suppresses Colon Carcinogenesis Genes doi: 10.3390/genes9020102 Authors: Faraz Bishehsari Phillip A. Engen Nailliw Z. Preite Yunus E. Tuncil Ankur Naqib Maliha Shaikh Marco Rossi Sherry Wilber Stefan J. Green Bruce R. Hamaker Khashayarsha Khazaie Robin M. Voigt Christopher B. Forsyth Ali Keshavarzian Epidemiological studies propose a protective role for dietary fiber in colon cancer (CRC). One possible mechanism of fiber is its fermentation property in the gut and ability to change microbiota composition and function. Here, we investigate the role of a dietary fiber mixture in polyposis and elucidate potential mechanisms using TS4Cre×cAPCl°x468 mice. Stool microbiota profiling was performed, while functional prediction was done using PICRUSt. Stool short-chain fatty acid (SCFA) metabolites were measured. Histone acetylation and expression of SCFA butyrate receptor were assessed. We found that SCFA-producing bacteria were lower in the polyposis mice, suggesting a decline in the fermentation product of dietary fibers with polyposis. Next, a high fiber diet was given to polyposis mice, which significantly increased SCFA-producing bacteria as well as SCFA levels. This was associated with an increase in SCFA butyrate receptor and a significant decrease in polyposis. In conclusion, we found polyposis to be associated with dysbiotic microbiota characterized by a decline in SCFA-producing bacteria, which was targetable by high fiber treatment, leading to an increase in SCFA levels and amelioration of polyposis. The prebiotic activity of fiber, promoting beneficial bacteria, could be the key mechanism for the protective effects of fiber on colon carcinogenesis. SCFA-promoting fermentable fibers are a promising dietary intervention to prevent CRC.
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    Genes, Vol. 9, Pages 372: TERribly Difficult: Searching for Telomerase RNAs in Saccharomycetes (2018)
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    Publication Date: 2018-07-27
    Description: Genes, Vol. 9, Pages 372: TERribly Difficult: Searching for Telomerase RNAs in Saccharomycetes Genes doi: 10.3390/genes9080372 Authors: Maria Waldl Bernhard C. Thiel Roman Ochsenreiter Alexander Holzenleiter João Victor de Araujo Oliveira Maria Emília M. T. Walter Michael T. Wolfinger Peter F. Stadler The telomerase RNA in yeasts is large, usually >1000 nt, and contains functional elements that have been extensively studied experimentally in several disparate species. Nevertheless, they are very difficult to detect by homology-based methods and so far have escaped annotation in the majority of the genomes of Saccharomycotina. This is a consequence of sequences that evolve rapidly at nucleotide level, are subject to large variations in size, and are highly plastic with respect to their secondary structures. Here, we report on a survey that was aimed at closing this gap in RNA annotation. Despite considerable efforts and the combination of a variety of different methods, it was only partially successful. While 27 new telomerase RNAs were identified, we had to restrict our efforts to the subgroup Saccharomycetacea because even this narrow subgroup was diverse enough to require different search models for different phylogenetic subgroups. More distant branches of the Saccharomycotina remain without annotated telomerase RNA.
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    Genes, Vol. 9, Pages 373: Insights into Avian Incomplete Dosage Compensation: Sex-Biased Gene Expression Coevolves with Sex Chromosome Degeneration in the Common Whitethroat (2018)
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    Publication Date: 2018-07-27
    Description: Genes, Vol. 9, Pages 373: Insights into Avian Incomplete Dosage Compensation: Sex-Biased Gene Expression Coevolves with Sex Chromosome Degeneration in the Common Whitethroat Genes doi: 10.3390/genes9080373 Authors: Hanna Sigeman Suvi Ponnikas Elin Videvall Hongkai Zhang Pallavi Chauhan Sara Naurin Bengt Hansson Non-recombining sex chromosomes (Y and W) accumulate deleterious mutations and degenerate. This poses a problem for the heterogametic sex (XY males; ZW females) because a single functional gene copy often implies less gene expression and a potential imbalance of crucial expression networks. Mammals counteract this by dosage compensation, resulting in equal sex chromosome expression in males and females, whereas birds show incomplete dosage compensation with significantly lower expression in females (ZW). Here, we study the evolution of Z and W sequence divergence and sex-specific gene expression in the common whitethroat (Sylvia communis), a species within the Sylvioidea clade where a neo-sex chromosome has been formed by a fusion between an autosome and the ancestral sex chromosome. In line with data from other birds, females had lower expression than males at the majority of sex-linked genes. Results from the neo-sex chromosome region showed that W gametologs have diverged functionally to a higher extent than their Z counterparts, and that the female-to-male expression ratio correlated negatively with the degree of functional divergence of these gametologs. We find it most likely that sex-linked genes are being suppressed in females as a response to W chromosome degradation, rather than that these genes experience relaxed selection, and thus diverge more, by having low female expression. Overall, our data of this unique avian neo-sex chromosome system suggest that incomplete dosage compensation evolves, at least partly, through gradual accumulation of deleterious mutations at the W chromosome and declining female gene expression.
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    Genes, Vol. 9, Pages 379: Genomic and Biotechnological Characterization of the Heavy-Metal Resistant, Arsenic-Oxidizing Bacterium Ensifer sp. M14 (2018)
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    Publication Date: 2018-07-28
    Description: Genes, Vol. 9, Pages 379: Genomic and Biotechnological Characterization of the Heavy-Metal Resistant, Arsenic-Oxidizing Bacterium Ensifer sp. M14 Genes doi: 10.3390/genes9080379 Authors: George C diCenzo Klaudia Debiec Jan Krzysztoforski Witold Uhrynowski Alessio Mengoni Camilla Fagorzi Adrian Gorecki Lukasz Dziewit Tomasz Bajda Grzegorz Rzepa Lukasz Drewniak Ensifer (Sinorhizobium) sp. M14 is an efficient arsenic-oxidizing bacterium (AOB) that displays high resistance to numerous metals and various stressors. Here, we report the draft genome sequence and genome-guided characterization of Ensifer sp. M14, and we describe a pilot-scale installation applying the M14 strain for remediation of arsenic-contaminated waters. The M14 genome contains 6874 protein coding sequences, including hundreds not found in related strains. Nearly all unique genes that are associated with metal resistance and arsenic oxidation are localized within the pSinA and pSinB megaplasmids. Comparative genomics revealed that multiple copies of high-affinity phosphate transport systems are common in AOBs, possibly as an As-resistance mechanism. Genome and antibiotic sensitivity analyses further suggested that the use of Ensifer sp. M14 in biotechnology does not pose serious biosafety risks. Therefore, a novel two-stage installation for remediation of arsenic-contaminated waters was developed. It consists of a microbiological module, where M14 oxidizes As(III) to As(V) ion, followed by an adsorption module for As(V) removal using granulated bog iron ores. During a 40-day pilot-scale test in an abandoned gold mine in Zloty Stok (Poland), water leaving the microbiological module generally contained trace amounts of As(III), and dramatic decreases in total arsenic concentrations were observed after passage through the adsorption module. These results demonstrate the usefulness of Ensifer sp. M14 in arsenic removal performed in environmental settings.
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    Genes, Vol. 9, Pages 382: Multimodal 3D DenseNet for IDH Genotype Prediction in Gliomas (2018)
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    Publication Date: 2018-07-31
    Description: Genes, Vol. 9, Pages 382: Multimodal 3D DenseNet for IDH Genotype Prediction in Gliomas Genes doi: 10.3390/genes9080382 Authors: Sen Liang Rongguo Zhang Dayang Liang Tianci Song Tao Ai Chen Xia Liming Xia Yan Wang Non-invasive prediction of isocitrate dehydrogenase (IDH) genotype plays an important role in tumor glioma diagnosis and prognosis. Recently, research has shown that radiology images can be a potential tool for genotype prediction, and fusion of multi-modality data by deep learning methods can further provide complementary information to enhance prediction accuracy. However, it still does not have an effective deep learning architecture to predict IDH genotype with three-dimensional (3D) multimodal medical images. In this paper, we proposed a novel multimodal 3D DenseNet (M3D-DenseNet) model to predict IDH genotypes with multimodal magnetic resonance imaging (MRI) data. To evaluate its performance, we conducted experiments on the BRATS-2017 and The Cancer Genome Atlas breast invasive carcinoma (TCGA-BRCA) dataset to get image data as input and gene mutation information as the target, respectively. We achieved 84.6% accuracy (area under the curve (AUC) = 85.7%) on the validation dataset. To evaluate its generalizability, we applied transfer learning techniques to predict World Health Organization (WHO) grade status, which also achieved a high accuracy of 91.4% (AUC = 94.8%) on validation dataset. With the properties of automatic feature extraction, and effective and high generalizability, M3D-DenseNet can serve as a useful method for other multimodal radiogenomics problems and has the potential to be applied in clinical decision making.
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    Genes, Vol. 9, Pages 386: Structural and Evolutionary Insights within the Polysaccharide Deacetylase Gene Family of Bacillus anthracis and Bacillus cereus (2018)
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    Publication Date: 2018-08-01
    Description: Genes, Vol. 9, Pages 386: Structural and Evolutionary Insights within the Polysaccharide Deacetylase Gene Family of Bacillus anthracis and Bacillus cereus Genes doi: 10.3390/genes9080386 Authors: Athena Andreou Petros Giastas Elias Christoforides Elias E. Eliopoulos Functional and folding constraints impose interdependence between interacting sites along the protein chain that are envisaged through protein sequence evolution. Studying the influence of structure in phylogenetic models requires detailed and reliable structural models. Polysaccharide deacetylases (PDAs), members of the carbohydrate esterase family 4, perform mainly metal-dependent deacetylation of O- or N-acetylated polysaccharides such as peptidoglycan, chitin and acetylxylan through a conserved catalytic core termed the NodB homology domain. Genomes of Bacillus anthracis and its relative Bacillus cereus contain multiple genes of putative or known PDAs. A comparison of the functional domains of the recently determined PDAs from B. anthracis and B. cereus and multiple amino acid and nucleotide sequence alignments and phylogenetic analysis performed on these closely related species showed that there were distinct differences in binding site formation, despite the high conservation on the protein sequence, the folding level and the active site assembly. This may indicate that, subject to biochemical verification, the binding site-forming sequence fragments are under functionally driven evolutionary pressure to accommodate and recognize distinct polysaccharide residues according to cell location, use, or environment. Finally, we discuss the suggestion of the paralogous nature of at least two genes of B. anthracis, ba0330 and ba0331, via specific differences in gene sequence, protein structure, selection pressure and available localization patterns. This study may contribute to understanding the mechanisms under which sequences evolve in their structures and how evolutionary processes enable structural variations.
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    Genes, Vol. 9, Pages 385: Synteny-Based Development of CAPS Markers Linked to the Sweet kernel LOCUS, Controlling Amygdalin Accumulation in Almond (Prunus dulcis (Mill.) D.A.Webb) (2018)
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    Publication Date: 2018-08-01
    Description: Genes, Vol. 9, Pages 385: Synteny-Based Development of CAPS Markers Linked to the Sweet kernel LOCUS, Controlling Amygdalin Accumulation in Almond (Prunus dulcis (Mill.) D.A.Webb) Genes doi: 10.3390/genes9080385 Authors: Francesca Ricciardi Jorge Del Cueto Nicoletta Bardaro Rosa Mazzeo Luigi Ricciardi Federico Dicenta Raquel Sánchez-Pérez Stefano Pavan Concetta Lotti The bitterness and toxicity of wild-type seeds of Prunoideae is due to the cyanogenic glucoside amygdalin. In cultivated almond (Prunus dulcis (Mill.) D.A. Webb), a dominant mutation at the Sk locus prevents amygdalin accumulation and thus results in edible sweet kernels. Here, we exploited sequence similarity and synteny between the genomes of almond and peach (Prunus persica (L.) Batsch) to identify cleaved amplified polymorphic sequence (CAPS) molecular markers linked to the Sk locus. A segregant F1 population was used to map these markers on the Sk genomic region, together with Sk-linked simple sequence repeat (SSR) markers previously described. Molecular fingerprinting of a cultivar collection indicated the possibility to use CAPS polymorphisms identified in this study in breeding programs arising from different parental combinations. Overall, we highlight a set of codominant markers useful for early selection of sweet kernel genotypes, an aspect of primary importance in almond breeding. In addition, by showing collinearity between the physical map of peach and the genetic map of almond with respect to the Sk genomic region, we provide valuable information for further marker development and Sk positional cloning.
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    Genes, Vol. 9, Pages 393: A High-Quality, Long-Read De Novo Genome Assembly to Aid Conservation of Hawaii’s Last Remaining Crow Species (2018)
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    Publication Date: 2018-08-02
    Description: Genes, Vol. 9, Pages 393: A High-Quality, Long-Read De Novo Genome Assembly to Aid Conservation of Hawaii’s Last Remaining Crow Species Genes doi: 10.3390/genes9080393 Authors: Jolene T. Sutton Martin Helmkampf Cynthia C. Steiner M. Renee Bellinger Jonas Korlach Richard Hall Primo Baybayan Jill Muehling Jenny Gu Sarah Kingan Bryce M. Masuda Oliver A. Ryder Abstract: Genome-level data can provide researchers with unprecedented precision to examine the causes and genetic consequences of population declines, which can inform conservation management. Here, we present a high-quality, long-read, de novo genome assembly for one of the world’s most endangered bird species, the ʻAlalā (Corvus hawaiiensis; Hawaiian crow). As the only remaining native crow species in Hawaiʻi, the ʻAlalā survived solely in a captive-breeding program from 2002 until 2016, at which point a long-term reintroduction program was initiated. The high-quality genome assembly was generated to lay the foundation for both comparative genomics studies and the development of population-level genomic tools that will aid conservation and recovery efforts. We illustrate how the quality of this assembly places it amongst the very best avian genomes assembled to date, comparable to intensively studied model systems. We describe the genome architecture in terms of repetitive elements and runs of homozygosity, and we show that compared with more outbred species, the ʻAlalā genome is substantially more homozygous. We also provide annotations for a subset of immunity genes that are likely to be important in conservation management, and we discuss how this genome is currently being used as a roadmap for downstream conservation applications.
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    Genes, Vol. 9, Pages 391: PRDM Histone Methyltransferase mRNA Levels Increase in Response to Curative Hormone Treatment for Cryptorchidism-Dependent Male Infertility (2018)
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    Publication Date: 2018-08-02
    Description: Genes, Vol. 9, Pages 391: PRDM Histone Methyltransferase mRNA Levels Increase in Response to Curative Hormone Treatment for Cryptorchidism-Dependent Male Infertility Genes doi: 10.3390/genes9080391 Authors: Faruk Hadziselimovic Gieri Cathomas Gilvydas Verkauskas Darius Dasevicius Michael B. Stadler There is a correlation between cryptorchidism and an increased risk of testicular cancer and infertility. During orchidopexy, testicular biopsies are performed to confirm the presence of type A dark (Ad) spermatogonia, which are a marker for low infertility risk (LIR). The Ad spermatogonia are absent in high infertility risk (HIR) patients, who are treated with a gonadotropin-releasing hormone agonist (GnRHa) to significantly lower the risk of infertility. Despite its prevalence, little is known about the molecular events involved in cryptorchidism. Previously, we compared the transcriptomes of LIR versus HIR patients treated with and without hormones. Here, we interpreted data regarding members of the positive regulatory domain-containing (PRDM) family; some of which encoded histone methyltransferases that are important for reproduction. We found there were lower levels of PRDM1, PRDM6, PRDM9, PRDM13, and PRDM14 mRNA in the testes of HIR patients compared with LIR patients, and that PRDM7, PRDM9, PRDM12, and PRDM16 were significantly induced after GnRHa treatment. Furthermore, we observed PRDM9 protein staining in the cytoplasm of germ cells in the testes from LIR and HIR patients, indicating that the mRNA and protein levels corresponded. This result indicated that the curative hormonal therapy for cryptorchidism involved conserved chromatin modification enzymes.
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    Genes, Vol. 9, Pages 396: Genomic Diversity of Listeria monocytogenes Isolated from Clinical and Non-Clinical Samples in Chile (2018)
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    Publication Date: 2018-08-03
    Description: Genes, Vol. 9, Pages 396: Genomic Diversity of Listeria monocytogenes Isolated from Clinical and Non-Clinical Samples in Chile Genes doi: 10.3390/genes9080396 Authors: Viviana Toledo Henk C. den Bakker Juan Carlos Hormazábal Gerardo González-Rocha Helia Bello-Toledo Magaly Toro Andrea I. Moreno-Switt Listeria monocytogenes is the causative agent of listeriosis, which is an uncommon but severe infection associated with high mortality rates in humans especially in high-risk groups. This bacterium survives a variety of stress conditions (e.g., high osmolality, low pH), which allows it to colonize different niches especially niches found in food processing environments. Additionally, a considerable heterogeneity in pathogenic potential has been observed in different strains. In this study, 38 isolates of L. monocytogenes collected in Chile from clinical samples (n = 22) and non-clinical samples (n = 16) were analyzed using whole genome sequencing (WGS) to determine their genomic diversity. A core genome Single Nucleotide Polymorphism (SNP) tree using 55 additional L. monocytogenes accessions classified the Chilean isolates in lineages I (n = 25) and II (n = 13). In silico, Multi-locus sequence typing (MLST) differentiated the isolates into 13 sequence types (ST) in which the most common were ST1 (15 isolates) and ST9 (6 isolates) and represented 55% of the isolates. Genomic elements associated with virulence (i.e., LIPI-1, LIPI-3, inlA, inlB, inlC, inlG, inlH, inlD, inlE, inlK, inlF, and inlJ) and stress survival (i.e., stress survival islet 1 and stress survival islet 2) were unevenly distributed among clinical and non-clinical isolates. In addition, one novel inlA premature stop codon (PMSC) was detected. Comparative analysis of L. monocytogenes circulating in Chile revealed the presence of globally distributed sequence types along with differences among the isolates analyzed at a genomic level specifically associated with virulence and stress survival.
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    Genes, Vol. 9, Pages 282: The Complete Mitochondrial Genome of Glyptothorax macromaculatus Provides a Well-Resolved Molecular Phylogeny of the Chinese Sisorid Catfishes (2018)
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    Publication Date: 2018-06-05
    Description: Genes, Vol. 9, Pages 282: The Complete Mitochondrial Genome of Glyptothorax macromaculatus Provides a Well-Resolved Molecular Phylogeny of the Chinese Sisorid Catfishes Genes doi: 10.3390/genes9060282 Authors: Yunyun Lv Yanping Li Zhiqiang Ruan Chao Bian Xinxin You Junxing Yang Wansheng Jiang Qiong Shi Previous phylogenetic analyses of the Chinese sisorid catfishes have either been poorly resolved or have not included all the 12 sisorid genera. Here, we successfully assembled the first complete mitochondrial genome of the sisorid fish Glyptothorax macromaculatus. Based on this novel mitochondrial genome and previously published mitochondrial genomes in the Sisoridae, we generated maximum likelihood and Bayesian phylogenies. We dated our preferred topology using fossil calibration points. We also tested the protein-coding genes in the mitochondrial genomes of the glyptosternoid fishes for signals of natural selection by comparing the nucleotide substitution rate along the branch ancestral to the glyptosternoid fishes to other branches in our topology. The mitochondrial sequence structure of G. macromaculatus was similar to those known from other vertebrates, with some slight differences. Our sisorid phylogenies were well-resolved and well-supported, with exact congruence between the different phylogenetic methods. This robust phylogeny clarified the relationships among the Chinese sisorid genera and strongly supported the division of the family into three main clades. Interestingly, the glyptosternoid divergence time predicted by our molecular dating analysis coincided with the uplift of the Tibetan Plateau, suggesting that geology may have influenced speciation in the Sisoridae. Among the mitochondrial protein-coding genes, atp8 may have most rapidly evolved, and atp6 may have been subjected to positive selection pressure to adapt to high elevations. In summary, this study provided novel insights into the phylogeny, evolution and high-altitude adaptions of the Chinese sisorid fishes.
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    Genes, Vol. 9, Pages 281: High-Throughput Incubation and Quantification of Agglutination Assays in a Microfluidic System (2018)
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    Publication Date: 2018-06-05
    Description: Genes, Vol. 9, Pages 281: High-Throughput Incubation and Quantification of Agglutination Assays in a Microfluidic System Genes doi: 10.3390/genes9060281 Authors: David Castro David Conchouso Rimantas Kodzius Arpys Arevalo Ian G. Foulds In this paper, we present a two-phase microfluidic system capable of incubating and quantifying microbead-based agglutination assays. The microfluidic system is based on a simple fabrication solution, which requires only laboratory tubing filled with carrier oil, driven by negative pressure using a syringe pump. We provide a user-friendly interface, in which a pipette is used to insert single droplets of a 1.25-µL volume into a system that is continuously running and therefore works entirely on demand without the need for stopping, resetting or washing the system. These assays are incubated by highly efficient passive mixing with a sample-to-answer time of 2.5 min, a 5–10-fold improvement over traditional agglutination assays. We study system parameters such as channel length, incubation time and flow speed to select optimal assay conditions, using the streptavidin-biotin interaction as a model analyte quantified using optical image processing. We then investigate the effect of changing the concentration of both analyte and microbead concentrations, with a minimum detection limit of 100 ng/mL. The system can be both low- and high-throughput, depending on the rate at which assays are inserted. In our experiments, we were able to easily produce throughputs of 360 assays per hour by simple manual pipetting, which could be increased even further by automation and parallelization. Agglutination assays are a versatile tool, capable of detecting an ever-growing catalog of infectious diseases, proteins and metabolites. A system such as this one is a step towards being able to produce high-throughput microfluidic diagnostic solutions with widespread adoption. The development of analytical techniques in the microfluidic format, such as the one presented in this work, is an important step in being able to continuously monitor the performance and microfluidic outputs of organ-on-chip devices.
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    Genes, Vol. 9, Pages 301: Decision Variants for the Automatic Determination of Optimal Feature Subset in RF-RFE (2018)
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    Publication Date: 2018-06-16
    Description: Genes, Vol. 9, Pages 301: Decision Variants for the Automatic Determination of Optimal Feature Subset in RF-RFE Genes doi: 10.3390/genes9060301 Authors: Qi Chen Zhaopeng Meng Xinyi Liu Qianguo Jin Ran Su Feature selection, which identifies a set of most informative features from the original feature space, has been widely used to simplify the predictor. Recursive feature elimination (RFE), as one of the most popular feature selection approaches, is effective in data dimension reduction and efficiency increase. A ranking of features, as well as candidate subsets with the corresponding accuracy, is produced through RFE. The subset with highest accuracy (HA) or a preset number of features (PreNum) are often used as the final subset. However, this may lead to a large number of features being selected, or if there is no prior knowledge about this preset number, it is often ambiguous and subjective regarding final subset selection. A proper decision variant is in high demand to automatically determine the optimal subset. In this study, we conduct pioneering work to explore the decision variant after obtaining a list of candidate subsets from RFE. We provide a detailed analysis and comparison of several decision variants to automatically select the optimal feature subset. Random forest (RF)-recursive feature elimination (RF-RFE) algorithm and a voting strategy are introduced. We validated the variants on two totally different molecular biology datasets, one for a toxicogenomic study and the other one for protein sequence analysis. The study provides an automated way to determine the optimal feature subset when using RF-RFE.
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    Genes, Vol. 9, Pages 312: The Case of X and Y Localization of Nucleolus Organizer Regions (NORs) in Tragulus javanicus (Cetartiodactyla, Mammalia) (2018)
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    Publication Date: 2018-06-21
    Description: Genes, Vol. 9, Pages 312: The Case of X and Y Localization of Nucleolus Organizer Regions (NORs) in Tragulus javanicus (Cetartiodactyla, Mammalia) Genes doi: 10.3390/genes9060312 Authors: Anastasia A. Proskuryakova Anastasia I. Kulemzina Polina L. Perelman Natalia A. Serdukova Oliver A. Ryder Alexander S. Graphodatsky There are differences in number and localization of nucleolus organizer regions (NORs) in genomes. In mammalian genomes, NORs are located on autosomes, which are often situated on short arms of acrocentric chromosomes and more rarely in telomeric, pericentromeric, or interstitial regions. In this work, we report the unique case of active NORs located on gonоsomes of a eutherian mammal, the Javan mouse-deer (Tragulus javanicus). We have investigated the position of NORs by FISH experiments with ribosomal DNA (rDNA) sequences (18S, 5.8S, and 28S) and show the presence of a single NOR site on the X and Y chromosomes. The NOR is localized interstitially on the p-arm of the X chromosome in close proximity with prominent C-positive heterochromatin blocks and in the pericentromeric area of mostly heterochromatic Y. The NOR sites are active on both the X and Y chromosomes in the studied individual and surrounded by GC enriched heterochromatin. We hypothesize that the surrounding heterochromatin might have played a role in the transfer of NORs from autosomes to sex chromosomes during the karyotype evolution of the Javan mouse-deer.
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    Genes, Vol. 9, Pages 311: Genome-Wide Identification and Functional Prediction of Novel Drought-Responsive lncRNAs in Pyrus betulifolia (2018)
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    Publication Date: 2018-06-21
    Description: Genes, Vol. 9, Pages 311: Genome-Wide Identification and Functional Prediction of Novel Drought-Responsive lncRNAs in Pyrus betulifolia Genes doi: 10.3390/genes9060311 Authors: Jinxing Wang Jing Lin Jialiang Kan Hong Wang Xiaogang Li Qingsong Yang Hui Li Youhong Chang Increasing evidence shows that long noncoding RNAs (lncRNAs) play important roles in developmental regulation and many other biological processes in plants. However, identification of lncRNAs in Pyrus betulifolia is limited compared with studies of functional gene expression. Using high-throughput sequencing technology, the transcriptome of P. betulifolia under drought stress was analyzed to identify lncRNAs. A total of 14,478 lncRNAs were identified, of which 251 were found to be drought-responsive. The putative target genes of these differentially expressed lncRNAs were significantly enriched in metabolic processes, organic substance metabolic processes, macromolecule metabolic processes, and heterocyclic compound binding. Real-time quantitative polymerase chain reaction validation suggested that the results of the RNA sequencing data analysis were reliable. This study will provide genetic resources for pear breeding and provide reference to other pomological studies.
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    Genes, Vol. 9, Pages 308: Construction of Red Fox Chromosomal Fragments from the Short-Read Genome Assembly (2018)
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    Publication Date: 2018-06-21
    Description: Genes, Vol. 9, Pages 308: Construction of Red Fox Chromosomal Fragments from the Short-Read Genome Assembly Genes doi: 10.3390/genes9060308 Authors: Halie M. Rando Marta Farré Michael P. Robson Naomi B. Won Jennifer L. Johnson Ronak Buch Estelle R. Bastounes Xueyan Xiang Shaohong Feng Shiping Liu Zijun Xiong Jaebum Kim Guojie Zhang Lyudmila N. Trut Denis M. Larkin Anna V. Kukekova The genome of a red fox (Vulpes vulpes) was recently sequenced and assembled using next-generation sequencing (NGS). The assembly is of high quality, with 94X coverage and a scaffold N50 of 11.8 Mbp, but is split into 676,878 scaffolds, some of which are likely to contain assembly errors. Fragmentation and misassembly hinder accurate gene prediction and downstream analysis such as the identification of loci under selection. Therefore, assembly of the genome into chromosome-scale fragments was an important step towards developing this genomic model. Scaffolds from the assembly were aligned to the dog reference genome and compared to the alignment of an outgroup genome (cat) against the dog to identify syntenic sequences among species. The program Reference-Assisted Chromosome Assembly (RACA) then integrated the comparative alignment with the mapping of the raw sequencing reads generated during assembly against the fox scaffolds. The 128 sequence fragments RACA assembled were compared to the fox meiotic linkage map to guide the construction of 40 chromosomal fragments. This computational approach to assembly was facilitated by prior research in comparative mammalian genomics, and the continued improvement of the red fox genome can in turn offer insight into canid and carnivore chromosome evolution. This assembly is also necessary for advancing genetic research in foxes and other canids.
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    Genes, Vol. 9, Pages 317: The Role of aDNA in Understanding the Coevolutionary Patterns of Human Sexually Transmitted Infections (2018)
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    Publication Date: 2018-06-26
    Description: Genes, Vol. 9, Pages 317: The Role of aDNA in Understanding the Coevolutionary Patterns of Human Sexually Transmitted Infections Genes doi: 10.3390/genes9070317 Authors: Ville N. Pimenoff Charlotte J. Houldcroft Riaan F. Rifkin Simon Underdown Analysis of pathogen genome data sequenced from clinical and historical samples has made it possible to perform phylogenetic analyses of sexually transmitted infections on a global scale, and to estimate the diversity, distribution, and coevolutionary host relationships of these pathogens, providing insights into pathogen emergence and disease prevention. Deep-sequenced pathogen genomes from clinical studies and ancient samples yield estimates of within-host and between-host evolutionary rates and provide data on changes in pathogen genomic stability and evolutionary responses. Here we examine three groups of pathogens transmitted mainly through sexual contact between modern humans to provide insight into ancient human behavior and history with their pathogens. Exploring ancient pathogen genomic divergence and the ancient viral-host parallel evolutionary histories will help us to reconstruct the origin of present-day geographical distribution and diversity of clinical pathogen infections, and will hopefully allow us to foresee possible environmentally induced pathogen evolutionary responses. Lastly, we emphasize that ancient pathogen DNA research should be combined with modern clinical pathogen data, and be equitable and provide advantages for all researchers worldwide, e.g., through shared data.
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    Genes, Vol. 9, Pages 322: APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation (2018)
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    Publication Date: 2018-06-28
    Description: Genes, Vol. 9, Pages 322: APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation Genes doi: 10.3390/genes9070322 Authors: Giovanna D’Elia Gemma Caliendo Amelia Casamassimi Michele Cioffi Anna Maria Molinari Maria Teresa Vietri APC and MUTYH genes are mutated in 70–90% and 10–30% of familial adenomatous polyposis cases (FAP) respectively. An association between mutation localization and FAP clinical phenotype is reported. The aims of this study were to determine APC and MUTYH mutational status in a small cohort of FAP patients and to evaluate the genotype-phenotype correlation in mutated patients. Here, we report the identification of a novel APC germline mutation, c.510_511insA. Overall, mutational analysis showed pathogenic mutations in 6/10 patients: 5/10 in APC and 1/10 in MUTYH. Additionally, we found three variants of unknown significance in MUTYH gene that showed no evidence of possible splicing defects by in silico analysis. Molecular analysis was also extended to family members of mutated patients. A genotype-phenotype correlation was observed for colonic signs whereas a variation of disease onset age was revealed for the same mutation. Moreover, we found an intrafamilial variability of FAP onset age. Regarding extracolonic manifestations, the development of desmoid tumors was related to surgery and not to mutation position, while a genotype-phenotype correspondence was observed for the onset of thyroid or gastric cancer. These findings can be useful in association to clinical data for early surveillance and suitable treatment of FAP patients.
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    Genes, Vol. 9, Pages 327: Transcriptome-Wide Identification of an Aurone Glycosyltransferase with Glycosidase Activity from Ornithogalum saundersiae (2018)
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    Publication Date: 2018-06-29
    Description: Genes, Vol. 9, Pages 327: Transcriptome-Wide Identification of an Aurone Glycosyltransferase with Glycosidase Activity from Ornithogalum saundersiae Genes doi: 10.3390/genes9070327 Authors: Shuai Yuan Ming Liu Yan Yang Jiu-Ming He Ya-Nan Wang Jian-Qiang Kong Aurone glycosides display a variety of biological activities. However, reports about glycosyltransferases (GTs) responsible for aurones glycosylation are limited. Here, the transcriptome-wide discovery and identification of an aurone glycosyltransferase with glycosidase activity is reported. Specifically, a complementary DNA (cDNA), designated as OsUGT1, was isolated from the plant Ornithogalum saundersiae based on transcriptome mining. Conserved domain (CD)-search speculated OsUGT1 as a flavonoid GT. Phylogenetically, OsUGT1 is clustered as the same phylogenetic group with a putative 5,6-dihydroxyindoline-2-carboxylic acid (cyclo-DOPA) 5-O-glucosyltransferase, suggesting OsUGT1 may be an aurone glycosyltransferase. The purified OsUGT1 was therefore used as a biocatalyst to incubate with the representative aurone sulfuretin. In vitro enzymatic analyses showed that OsUGT1 was able to catalyze sulfuretin to form corresponding monoglycosides, suggesting OsUGT1 was indeed an aurone glycosyltransferase. OsUGT1 was observed to be a flavonoid GT, specific for flavonoid substrates. Moreover, OsUGT1 was demonstrated to display transglucosylation activity, transferring glucosyl group to sulfuretin via o-Nitrophenyl-β-d-glucopyranoside (oNP-β-Glc)-dependent fashion. In addition, OsUGT1-catalyzed hydrolysis was observed. This multifunctionality of OcUGT1 will broaden the application of OcUGT1 in glycosylation of aurones and other flavonoids.
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    Genes, Vol. 9, Pages 387: Olfactory Communication via Microbiota: What Is Known in Birds? (2018)
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    Publication Date: 2018-08-01
    Description: Genes, Vol. 9, Pages 387: Olfactory Communication via Microbiota: What Is Known in Birds? Genes doi: 10.3390/genes9080387 Authors: Öncü Maraci Kathrin Engel Barbara A. Caspers Animal bodies harbour a complex and diverse community of microorganisms and accumulating evidence has revealed that microbes can influence the hosts’ behaviour, for example by altering body odours. Microbial communities produce odorant molecules as metabolic by-products and thereby modulate the biochemical signalling profiles of their animal hosts. As the diversity and the relative abundance of microbial species are influenced by several factors including host-specific factors, environmental factors and social interactions, there are substantial individual variations in the composition of microbial communities. In turn, the variations in microbial communities would consequently affect social and communicative behaviour by influencing recognition cues of the hosts. Therefore, microbiota studies have a great potential to expand our understanding of recognition of conspecifics, group members and kin. In this review, we aim to summarize existing knowledge of the factors influencing the microbial communities and the effect of microbiota on olfactory cue production and social and communicative behaviour. We concentrate on avian taxa, yet we also include recent research performed on non-avian species when necessary.
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    Genes, Vol. 9, Pages 392: RNA Structure Elements Conserved between Mouse and 59 Other Vertebrates (2018)
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    Publication Date: 2018-08-02
    Description: Genes, Vol. 9, Pages 392: RNA Structure Elements Conserved between Mouse and 59 Other Vertebrates Genes doi: 10.3390/genes9080392 Authors: Bernhard Thiel Roman Ochsenreiter Veerendra Gadekar Andrea Tanzer Ivo L. Hofacker In this work, we present a computational screen conducted for functional RNA structures, resulting in over 100,000 conserved RNA structure elements found in alignments of mouse (mm10) against 59 other vertebrates. We explicitly included masked repeat regions to explore the potential of transposable elements and low-complexity regions to give rise to regulatory RNA elements. In our analysis pipeline, we implemented a four-step procedure: (i) we screened genome-wide alignments for potential structure elements using RNAz-2, (ii) realigned and refined candidate loci with LocARNA-P, (iii) scored candidates again with RNAz-2 in structure alignment mode, and (iv) searched for additional homologous loci in mouse genome that were not covered by genome alignments. The 3’-untranslated regions (3’-UTRs) of protein-coding genes and small noncoding RNAs are enriched for structures, while coding sequences are depleted. Repeat-associated loci make up about 95% of the homologous loci identified and are, as expected, predominantly found in intronic and intergenic regions. Nevertheless, we report the structure elements enriched in specific genome elements, such as 3’-UTRs and long noncoding RNAs (lncRNAs). We provide full access to our results via a custom UCSC genome browser trackhub freely available on our website (http://rna.tbi.univie.ac.at/trackhubs/#RNAz).
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    Genes, Vol. 9, Pages 411: Pervasive Modulation of Obesity Risk by the Environment and Genomic Background (2018)
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    Publication Date: 2018-08-15
    Description: Genes, Vol. 9, Pages 411: Pervasive Modulation of Obesity Risk by the Environment and Genomic Background Genes doi: 10.3390/genes9080411 Authors: Sini Nagpal Greg Gibson Urko M. Marigorta The prevalence of the so-called diseases of affluence, such as type 2 diabetes or hypertension, has increased dramatically in the last two generations. Although genome-wide association studies (GWAS) have discovered hundreds of genes involved in disease etiology, the sudden increase in disease incidence suggests a major role for environmental risk factors. Obesity constitutes a case example of a modern trait shaped by contemporary environment, although with considerable debates about the extent to which gene-by-environment (G×E) interactions accentuate obesity risk in individuals following obesogenic lifestyles. Although interaction effects have been robustly confirmed at the FTO locus, accumulating evidence at the genome-wide level implicates a role for polygenic risk-by-environment interactions. Through a variety of analyses using the UK Biobank, we confirm that the genomic background plays a major role in shaping the expressivity of alleles that increase body mass index (BMI).
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    Genes, Vol. 9, Pages 417: Membrane Surface Features of Blastocystis Subtypes (2018)
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    Publication Date: 2018-08-18
    Description: Genes, Vol. 9, Pages 417: Membrane Surface Features of Blastocystis Subtypes Genes doi: 10.3390/genes9080417 Authors: John Anthony Yason Kevin Shyong Wei Tan Blastocystis is a common intestinal protistan parasite with global distribution. Blastocystis is a species complex composed of several isolates with biological and morphological differences. The surface coats of Blastocystis from three different isolates representing three subtypes were analyzed using scanning electron microscopy. This structure contains carbohydrate components that are also present in surface glycoconjugates in other parasitic protozoa. Electron micrographs show variations in the surface coats from the three Blastocystis isolates. These differences could be associated with the differences in the pathogenic potential of Blastocystis subtypes. Apart from the surface coat, a plasma membrane-associated surface antigen has been described for Blastocystis ST7 and is associated with programmed cell death features of the parasite.
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    Genes, Vol. 9, Pages 416: Maneuvers on PCNA Rings during DNA Replication and Repair (2018)
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    Publication Date: 2018-08-18
    Description: Genes, Vol. 9, Pages 416: Maneuvers on PCNA Rings during DNA Replication and Repair Genes doi: 10.3390/genes9080416 Authors: Dea Slade DNA replication and repair are essential cellular processes that ensure genome duplication and safeguard the genome from deleterious mutations. Both processes utilize an abundance of enzymatic functions that need to be tightly regulated to ensure dynamic exchange of DNA replication and repair factors. Proliferating cell nuclear antigen (PCNA) is the major coordinator of faithful and processive replication and DNA repair at replication forks. Post-translational modifications of PCNA, ubiquitination and acetylation in particular, regulate the dynamics of PCNA-protein interactions. Proliferating cell nuclear antigen (PCNA) monoubiquitination elicits ‘polymerase switching’, whereby stalled replicative polymerase is replaced with a specialized polymerase, while PCNA acetylation may reduce the processivity of replicative polymerases to promote homologous recombination-dependent repair. While regulatory functions of PCNA ubiquitination and acetylation have been well established, the regulation of PCNA-binding proteins remains underexplored. Considering the vast number of PCNA-binding proteins, many of which have similar PCNA binding affinities, the question arises as to the regulation of the strength and sequence of their binding to PCNA. Here I provide an overview of post-translational modifications on both PCNA and PCNA-interacting proteins and discuss their relevance for the regulation of the dynamic processes of DNA replication and repair.
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    Genes, Vol. 9, Pages 419: Comparative Genomics and Description of Putative Virulence Factors of Melissococcus plutonius, the Causative Agent of European Foulbrood Disease in Honey Bees (2018)
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    Description: Genes, Vol. 9, Pages 419: Comparative Genomics and Description of Putative Virulence Factors of Melissococcus plutonius, the Causative Agent of European Foulbrood Disease in Honey Bees Genes doi: 10.3390/genes9080419 Authors: Marvin Djukic Silvio Erler Andreas Leimbach Daniela Grossar Jean-Daniel Charrière Laurent Gauthier Denise Hartken Sascha Dietrich Heiko Nacke Rolf Daniel Anja Poehlein In Europe, approximately 84% of cultivated crop species depend on insect pollinators, mainly bees. Apis mellifera (the Western honey bee) is the most important commercial pollinator worldwide. The Gram-positive bacterium Melissococcus plutonius is the causative agent of European foulbrood (EFB), a global honey bee brood disease. In order to detect putative virulence factors, we sequenced and analyzed the genomes of 14 M. plutonius strains, including two reference isolates. The isolates do not show a high diversity in genome size or number of predicted protein-encoding genes, ranging from 2.021 to 2.101 Mbp and 1589 to 1686, respectively. Comparative genomics detected genes that might play a role in EFB pathogenesis and ultimately in the death of the honey bee larvae. These include bacteriocins, bacteria cell surface- and host cell adhesion-associated proteins, an enterococcal polysaccharide antigen, an epsilon toxin, proteolytic enzymes, and capsule-associated proteins. In vivo expression of three putative virulence factors (endo-alpha-N-acetylgalactosaminidase, enhancin and epsilon toxin) was verified using naturally infected larvae. With our strain collection, we show for the first time that genomic differences exist between non-virulent and virulent typical strains, as well as a highly virulent atypical strain, that may contribute to the virulence of M. plutonius. Finally, we also detected a high number of conserved pseudogenes (75 to 156) per genome, which indicates genomic reduction during evolutionary host adaptation.
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    Genes, Vol. 9, Pages 427: Genetic Variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 Are Associated with Breast Cancer Susceptibility in a South American Population (2018)
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    Publication Date: 2018-08-23
    Description: Genes, Vol. 9, Pages 427: Genetic Variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 Are Associated with Breast Cancer Susceptibility in a South American Population Genes doi: 10.3390/genes9090427 Authors: Sebastián Morales Tomas De Mayo Felipe Andrés Gulppi Patricio Gonzalez-Hormazabal Valentina Carrasco José Miguel Reyes Fernando Gómez Enrique Waugh Lilian Jara Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American population. The SNPs were genotyped in 440 Chilean BRCA1/2-negative BC cases and 1048 controls. Our data do not support an association between rs2910164:G>C or rs3746444:A>G and BC risk. The rs12975333:G>T is monomorphic in the Chilean population. The pre-miR-605 rs2043556-C allele was associated with a decreased risk of BC, both in patients with a strong family history of BC and in early-onset non-familial BC (Odds ratio (OR) = 0.5 [95% confidence interval (CI) 0.4–0.9] p = 0.006 and OR = 0.6 [95% CI 0.5–0.9] p = 0.02, respectively). The rs4541843-T allele is associated with increased risk of familial BC. This is the first association study on rs4541843 and BC risk. Previously, we showed that the TOX3-rs3803662:C>T was significantly associated with increased risk of familial BC. Given that TOX3 mRNA is a target of miR-182, and that both the TOX3 rs3803662-T and pri-miR-182 rs4541843-T alleles are associated with increased BC risk, we evaluated their combined effect. Risk of familial BC increased in a dose-dependent manner with the number of risk alleles (p-trend = 0.0005), indicating an additive effect.
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    Genes, Vol. 9, Pages 426: RBPvsMIR: A Computational Pipeline to Identify Competing miRNAs and RNA-Binding Protein Pairs Regulating the Shared Transcripts (2018)
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    Publication Date: 2018-08-23
    Description: Genes, Vol. 9, Pages 426: RBPvsMIR: A Computational Pipeline to Identify Competing miRNAs and RNA-Binding Protein Pairs Regulating the Shared Transcripts Genes doi: 10.3390/genes9090426 Authors: Xing Zhao Danze Chen Yujie Cai Fan Zhang Jianzhen Xu Gene post-transcription regulation involves several critical regulators such as microRNAs (miRNAs) and RNA-binding proteins (RBPs). Accumulated experimental evidences have shown that miRNAs and RBPs can competitively regulate the shared targeting transcripts. Although this establishes a novel post-transcription regulation mechanism, there are currently no computational tools to scan for the possible competing miRNA and RBP pairs. Here, we developed a novel computational pipeline—RBPvsMIR—that enables us to statistically evaluate the competing relationship between miRNAs and RBPs. RBPvsMIR first combines with previously successful miRNAs and RBP motifs discovery applications to search for overlapping or adjacent binding sites along a given RNA sequence. Then a permutation test is performed to select the miRNA and RBP pairs with the significantly enriched binding sites. As an example, we used RBPvsMIR to identify 235 competing RBP-miRNA pairs for long non-coding RNA (lncRNA) MALAT1. Wet lab experiments verified that splicing factor SRSF2 competes with miR-383, miR-502 and miR-101 to regulate MALAT1 in esophageal squamous carcinoma cells. Our study also revealed the global mutual exclusive pattern for miRNAs and RBP to regulate human lncRNAs. In addition, we provided a convenient web server (http://bmc.med.stu.edu.cn/RBPvsMIR), which should accelerate the exploration of competing miRNAs and RBP pairs regulating the shared targeting transcripts.
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    Genes, Vol. 9, Pages 432: Bioinformatics Tools and Benchmarks for Computational Docking and 3D Structure Prediction of RNA-Protein Complexes (2018)
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    Publication Date: 2018-08-26
    Description: Genes, Vol. 9, Pages 432: Bioinformatics Tools and Benchmarks for Computational Docking and 3D Structure Prediction of RNA-Protein Complexes Genes doi: 10.3390/genes9090432 Authors: Chandran Nithin Pritha Ghosh Janusz M. Bujnicki RNA-protein (RNP) interactions play essential roles in many biological processes, such as regulation of co-transcriptional and post-transcriptional gene expression, RNA splicing, transport, storage and stabilization, as well as protein synthesis. An increasing number of RNP structures would aid in a better understanding of these processes. However, due to the technical difficulties associated with experimental determination of macromolecular structures by high-resolution methods, studies on RNP recognition and complex formation present significant challenges. As an alternative, computational prediction of RNP interactions can be carried out. Structural models obtained by theoretical predictive methods are, in general, less reliable compared to models based on experimental measurements but they can be sufficiently accurate to be used as a basis for to formulating functional hypotheses. In this article, we present an overview of computational methods for 3D structure prediction of RNP complexes. We discuss currently available methods for macromolecular docking and for scoring 3D structural models of RNP complexes in particular. Additionally, we also review benchmarks that have been developed to assess the accuracy of these methods.
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    Genes, Vol. 9, Pages 431: Comparative Transcriptomics of Root Development in Wild and Cultivated Carrots (2018)
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    Publication Date: 2018-08-25
    Description: Genes, Vol. 9, Pages 431: Comparative Transcriptomics of Root Development in Wild and Cultivated Carrots Genes doi: 10.3390/genes9090431 Authors: Gabriela Machaj Hamed Bostan Alicja Macko-Podgórni Massimo Iorizzo Dariusz Grzebelus The carrot is the most popular root vegetable worldwide. The genetic makeup underlying the development of the edible storage root are fragmentary. Here, we report the first comparative transcriptome analysis between wild and cultivated carrot roots at multiple developmental stages. Overall, 3285, 4637, and 570 genes were differentially expressed in the cultivated carrot in comparisons made for young plants versus developing roots, young plants versus mature roots, and developing roots versus mature roots, respectively. Of those, 1916, 2645, and 475, respectively, were retained after filtering out genes showing similar profiles of expression in the wild carrot. They were assumed to be of special interest with respect to the development of the storage root. Among them, transcription factors and genes encoding proteins involved in post-translational modifications (signal transduction and ubiquitination) were mostly upregulated, while those involved in redox signaling were mostly downregulated. Also, genes encoding proteins regulating cell cycle, involved in cell divisions, development of vascular tissue, water transport, and sugar metabolism were enriched in the upregulated clusters. Genes encoding components of photosystem I and II, together with genes involved in carotenoid biosynthesis, were upregulated in the cultivated roots, as opposed to the wild roots; however, they were largely downregulated in the mature storage root, as compared with the young and developing root. The experiment produced robust resources for future investigations on the regulation of storage root formation in carrot and Apiaceae.
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    Genes, Vol. 9, Pages 434: Functional Analyses of a Putative, Membrane-Bound, Peroxisomal Protein Import Mechanism from the Apicomplexan Protozoan Toxoplasma gondii (2018)
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    Publication Date: 2018-08-30
    Description: Genes, Vol. 9, Pages 434: Functional Analyses of a Putative, Membrane-Bound, Peroxisomal Protein Import Mechanism from the Apicomplexan Protozoan Toxoplasma gondii Genes doi: 10.3390/genes9090434 Authors: Alison J. Mbekeani Will A. Stanley Vishal C. Kalel Noa Dahan Einat Zalckvar Lilach Sheiner Wolfgang Schliebs Ralf Erdmann Ehmke Pohl Paul W. Denny Peroxisomes are central to eukaryotic metabolism, including the oxidation of fatty acids—which subsequently provide an important source of metabolic energy—and in the biosynthesis of cholesterol and plasmalogens. However, the presence and nature of peroxisomes in the parasitic apicomplexan protozoa remains controversial. A survey of the available genomes revealed that genes encoding peroxisome biogenesis factors, so-called peroxins (Pex), are only present in a subset of these parasites, the coccidia. The basic principle of peroxisomal protein import is evolutionarily conserved, proteins harbouring a peroxisomal-targeting signal 1 (PTS1) interact in the cytosol with the shuttling receptor Pex5 and are then imported into the peroxisome via the membrane-bound protein complex formed by Pex13 and Pex14. Surprisingly, whilst Pex5 is clearly identifiable, Pex13 and, perhaps, Pex14 are apparently absent from the coccidian genomes. To investigate the functionality of the PTS1 import mechanism in these parasites, expression of Pex5 from the model coccidian Toxoplasma gondii was shown to rescue the import defect of Pex5-deleted Saccharomyces cerevisiae. In support of these data, green fluorescent protein (GFP) bearing the enhanced (e)PTS1 known to efficiently localise to peroxisomes in yeast, localised to peroxisome-like bodies when expressed in Toxoplasma. Furthermore, the PTS1-binding domain of Pex5 and a PTS1 ligand from the putatively peroxisome-localised Toxoplasma sterol carrier protein (SCP2) were shown to interact in vitro. Taken together, these data demonstrate that the Pex5–PTS1 interaction is functional in the coccidia and indicate that a nonconventional peroxisomal import mechanism may operate in the absence of Pex13 and Pex14.
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    Genes, Vol. 9, Pages 435: FDHE-IW: A Fast Approach for Detecting High-Order Epistasis in Genome-Wide Case-Control Studies (2018)
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    Description: Genes, Vol. 9, Pages 435: FDHE-IW: A Fast Approach for Detecting High-Order Epistasis in Genome-Wide Case-Control Studies Genes doi: 10.3390/genes9090435 Authors: Shouheng Tuo Detecting high-order epistasis in genome-wide association studies (GWASs) is of importance when characterizing complex human diseases. However, the enormous numbers of possible single-nucleotide polymorphism (SNP) combinations and the diversity among diseases presents a significant computational challenge. Herein, a fast method for detecting high-order epistasis based on an interaction weight (FDHE-IW) method is evaluated in the detection of SNP combinations associated with disease. First, the symmetrical uncertainty (SU) value for each SNP is calculated. Then, the top-k SNPs are isolated as guiders to identify 2-way SNP combinations with significant interaction weight values. Next, a forward search is employed to detect high-order SNP combinations with significant interaction weight values as candidates. Finally, the findings were statistically evaluated using a G-test to isolate true positives. The developed algorithm was used to evaluate 12 simulated datasets and an age-related macular degeneration (AMD) dataset and was shown to perform robustly in the detection of some high-order disease-causing models.
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  • 90
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    Genes, Vol. 9, Pages 433: Specific LTR-Retrotransposons Show Copy Number Variations between Wild and Cultivated Sunflowers (2018)
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    Publication Date: 2018-08-30
    Description: Genes, Vol. 9, Pages 433: Specific LTR-Retrotransposons Show Copy Number Variations between Wild and Cultivated Sunflowers Genes doi: 10.3390/genes9090433 Authors: Flavia Mascagni Alberto Vangelisti Tommaso Giordani Andrea Cavallini Lucia Natali The relationship between variation of the repetitive component of the genome and domestication in plant species is not fully understood. In previous work, variations in the abundance and proximity to genes of long terminal repeats (LTR)-retrotransposons of sunflower (Helianthus annuus L.) were investigated by Illumina DNA sequencingtocompare cultivars and wild accessions. In this study, we annotated and characterized 22 specific retrotransposon families whose abundance varies between domesticated and wild genotypes. These families mostly belonged to the Chromovirus lineage of the Gypsy superfamily and were distributed overall chromosomes. They were also analyzed in respect to their proximity to genes. Genes close to retrotransposon were classified according to biochemical pathways, and differences between domesticated and wild genotypes are shown. These data suggest that structural variations related to retrotransposons might have occurred to produce phenotypic variation between wild and domesticated genotypes, possibly by affecting the expression of genes that lie close to inserted or deleted retrotransposons and belong to specific biochemical pathways as those involved in plant stress responses.
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    Genes, Vol. 9, Pages 437: Network-Based Approaches to Explore Complex Biological Systems towards Network Medicine (2018)
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    Publication Date: 2018-09-01
    Description: Genes, Vol. 9, Pages 437: Network-Based Approaches to Explore Complex Biological Systems towards Network Medicine Genes doi: 10.3390/genes9090437 Authors: Giulia Fiscon Federica Conte Lorenzo Farina Paola Paci Network medicine relies on different types of networks: from the molecular level of protein–protein interactions to gene regulatory network and correlation studies of gene expression. Among network approaches based on the analysis of the topological properties of protein–protein interaction (PPI) networks, we discuss the widespread DIAMOnD (disease module detection) algorithm. Starting from the assumption that PPI networks can be viewed as maps where diseases can be identified with localized perturbation within a specific neighborhood (i.e., disease modules), DIAMOnD performs a systematic analysis of the human PPI network to uncover new disease-associated genes by exploiting the connectivity significance instead of connection density. The past few years have witnessed the increasing interest in understanding the molecular mechanism of post-transcriptional regulation with a special emphasis on non-coding RNAs since they are emerging as key regulators of many cellular processes in both physiological and pathological states. Recent findings show that coding genes are not the only targets that microRNAs interact with. In fact, there is a pool of different RNAs—including long non-coding RNAs (lncRNAs) —competing with each other to attract microRNAs for interactions, thus acting as competing endogenous RNAs (ceRNAs). The framework of regulatory networks provides a powerful tool to gather new insights into ceRNA regulatory mechanisms. Here, we describe a data-driven model recently developed to explore the lncRNA-associated ceRNA activity in breast invasive carcinoma. On the other hand, a very promising example of the co-expression network is the one implemented by the software SWIM (switch miner), which combines topological properties of correlation networks with gene expression data in order to identify a small pool of genes—called switch genes—critically associated with drastic changes in cell phenotype. Here, we describe SWIM tool along with its applications to cancer research and compare its predictions with DIAMOnD disease genes.
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    Genes, Vol. 9, Pages 439: Wnt Effector TCF4 Is Dispensable for Wnt Signaling in Human Cancer Cells (2018)
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    Publication Date: 2018-09-02
    Description: Genes, Vol. 9, Pages 439: Wnt Effector TCF4 Is Dispensable for Wnt Signaling in Human Cancer Cells Genes doi: 10.3390/genes9090439 Authors: Dusan Hrckulak Lucie Janeckova Lucie Lanikova Vitezslav Kriz Monika Horazna Olga Babosova Martina Vojtechova Katerina Galuskova Eva Sloncova Vladimir Korinek T-cell factor 4 (TCF4), together with β-catenin coactivator, functions as the major transcriptional mediator of the canonical wingless/integrated (Wnt) signaling pathway in the intestinal epithelium. The pathway activity is essential for both intestinal homeostasis and tumorigenesis. To date, several mouse models and cellular systems have been used to analyze TCF4 function. However, some findings were conflicting, especially those that were related to the defects observed in the mouse gastrointestinal tract after Tcf4 gene deletion, or to a potential tumor suppressive role of the gene in intestinal cancer cells or tumors. Here, we present the results obtained using a newly generated conditional Tcf4 allele that allows inactivation of all potential Tcf4 isoforms in the mouse tissue or small intestinal and colon organoids. We also employed the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system to disrupt the TCF4 gene in human cells. We showed that in adult mice, epithelial expression of Tcf4 is indispensable for cell proliferation and tumor initiation. However, in human cells, the TCF4 role is redundant with the related T-cell factor 1 (TCF1) and lymphoid enhancer-binding factor 1 (LEF1) transcription factors.
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    Genes, Vol. 9, Pages 441: The drnf1 Gene from the Drought-Adapted Cyanobacterium Nostoc flagelliforme Improved Salt Tolerance in Transgenic Synechocystis and Arabidopsis Plant (2018)
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    Publication Date: 2018-09-05
    Description: Genes, Vol. 9, Pages 441: The drnf1 Gene from the Drought-Adapted Cyanobacterium Nostoc flagelliforme Improved Salt Tolerance in Transgenic Synechocystis and Arabidopsis Plant Genes doi: 10.3390/genes9090441 Authors: Lijuan Cui Yinghui Liu Yiwen Yang Shuifeng Ye Hongyi Luo Baosheng Qiu Xiang Gao Environmental abiotic stresses are limiting factors for less tolerant organisms, including soil plants. Abiotic stress tolerance-associated genes from prokaryotic organisms are supposed to have a bright prospect for transgenic application. The drought-adapted cyanobacterium Nostoc flagelliforme is arising as a valuable prokaryotic biotic resource for gene excavation. In this study, we evaluated the salt-tolerant function and application potential of a candidate gene drnf1 from N. flagelliforme, which contains a P-loop NTPase (nucleoside-triphosphatase) domain, through heterologous expression in two model organisms Synechocystis sp. PCC 6803 and Arabidopsis thaliana. It was found that DRNF1 could confer significant salt tolerance in both transgenic organisms. In salt-stressed transgenic Synechocystis, DRNF1 could enhance the respiration rate; slow-down the accumulation of exopolysaccharides; up-regulate the expression of salt tolerance-related genes at a higher level, such as those related to glucosylglycerol synthesis, Na+/H+ antiport, and sugar metabolism; and maintain a better K+/Na+ homeostasis, as compared to the wild-type strain. These results imply that DRNF1 could facilitate salt tolerance by affecting the respiration metabolism and indirectly regulating the expression of important salt-tolerant genes. Arabidopsis was employed to evaluate the salt tolerance-conferring potential of DRNF1 in plants. The results show that it could enhance the seed germination and shoot growth of transgenic plants under saline conditions. In general, a novel prokaryotic salt-tolerant gene from N. flagelliforme was identified and characterized in this study, enriching the candidate gene pool for genetic engineering in plants.
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    Genes, Vol. 9, Pages 446: Bioinformatics Analysis of SNPs in IL-6 Gene Promoter of Jinghai Yellow Chickens (2018)
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    Publication Date: 2018-09-07
    Description: Genes, Vol. 9, Pages 446: Bioinformatics Analysis of SNPs in IL-6 Gene Promoter of Jinghai Yellow Chickens Genes doi: 10.3390/genes9090446 Authors: Shijie Xin Xiaohui Wang Guojun Dai Jingjing Zhang Tingting An Wenbin Zou Genxi Zhang Kaizhou Xie Jinyu Wang The proinflammatory cytokine, interleukin-6 (IL-6), plays a critical role in many chronic inflammatory diseases, particularly inflammatory bowel disease. To investigate the regulation of IL-6 gene expression at the molecular level, genomic DNA sequencing of Jinghai yellow chickens (Gallus gallus) was performed to detect single-nucleotide polymorphisms (SNPs) in the region −2200 base pairs (bp) upstream to 500 bp downstream of IL-6. Transcription factor binding sites and CpG islands in the IL-6 promoter region were predicted using bioinformatics software. Twenty-eight SNP sites were identified in IL-6. Four of these 28 SNPs, three [−357 (G > A), −447 (C > G), and −663 (A > G)] in the 5′ regulatory region and one in the 3′ non-coding region [3177 (C > T)] are not labelled in GenBank. Bioinformatics analysis revealed 11 SNPs within the promoter region that altered putative transcription factor binding sites. Furthermore, the C-939G mutation in the promoter region may change the number of CpG islands, and SNPs in the 5′ regulatory region may influence IL-6 gene expression by altering transcription factor binding or CpG methylation status. Genetic diversity analysis revealed that the newly discovered A-663G site significantly deviated from Hardy-Weinberg equilibrium. These results provide a basis for further exploration of the promoter function of the IL-6 gene and the relationships of these SNPs to intestinal inflammation resistance in chickens.
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    Genes, Vol. 9, Pages 445: Metagenomic Composition Analysis of an Ancient Sequenced Polar Bear Jawbone from Svalbard (2018)
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    Publication Date: 2018-09-07
    Description: Genes, Vol. 9, Pages 445: Metagenomic Composition Analysis of an Ancient Sequenced Polar Bear Jawbone from Svalbard Genes doi: 10.3390/genes9090445 Authors: Diogo Pratas Morteza Hosseini Gonçalo Grilo Armando J. Pinho Raquel M. Silva Tânia Caetano João Carneiro Filipe Pereira The sequencing of ancient DNA samples provides a novel way to find, characterize, and distinguish exogenous genomes of endogenous targets. After sequencing, computational composition analysis enables filtering of undesired sources in the focal organism, with the purpose of improving the quality of assemblies and subsequent data analysis. More importantly, such analysis allows extinct and extant species to be identified without requiring a specific or new sequencing run. However, the identification of exogenous organisms is a complex task, given the nature and degradation of the samples, and the evident necessity of using efficient computational tools, which rely on algorithms that are both fast and highly sensitive. In this work, we relied on a fast and highly sensitive tool, FALCON-meta, which measures similarity against whole-genome reference databases, to analyse the metagenomic composition of an ancient polar bear (Ursus maritimus) jawbone fossil. The fossil was collected in Svalbard, Norway, and has an estimated age of 110,000 to 130,000 years. The FASTQ samples contained 349 GB of nonamplified shotgun sequencing data. We identified and localized, relative to the FASTQ samples, the genomes with significant similarities to reference microbial genomes, including those of viruses, bacteria, and archaea, and to fungal, mitochondrial, and plastidial sequences. Among other striking features, we found significant similarities between modern-human, some bacterial and viral sequences (contamination) and the organelle sequences of wild carrot and tomato relative to the whole samples. For each exogenous candidate, we ran a damage pattern analysis, which in addition to revealing shallow levels of damage in the plant candidates, identified the source as contamination.
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    Genes, Vol. 9, Pages 444: Can Genetic Factors Compromise the Success of Dental Implants? A Systematic Review and Meta-Analysis (2018)
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    Publication Date: 2018-09-07
    Description: Genes, Vol. 9, Pages 444: Can Genetic Factors Compromise the Success of Dental Implants? A Systematic Review and Meta-Analysis Genes doi: 10.3390/genes9090444 Authors: Joel Ferreira Santiago Junior Claudia Cristina Biguetti Mariza Akemi Matsumoto Guilherme Abu Halawa Kudo Raquel Barroso Parra da Silva Patrícia Pinto Saraiva Walid D. Fakhouri Dental implants provide a predictable treatment option for partial and complete edentulism via the placement of a fixed permanent artificial root to support prosthetic dental crowns. Despite the high survival rates, long-term dental implant failures are still reported, leading to implant removals and additional financial and health burdens. While extrinsic factors that improve the success rate of implants have been well explored, the impact of genetic factors on this matter is poorly understood. A systematic review and meta-analysis study was conducted to determine whether genetic factors contribute to an increased risk of dental implant failures. A comprehensive search for peer-reviewed articles on dental implants and genetic factors was performed using various literature database libraries. The study design was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, and the obtained records were registered in the International Prospective Register of Systematic Reviews (PROSPERO) database. According to the exclusion/inclusion criteria, 13 studies were eligible for this study out of 809 articles. The meta-analysis of the combined association studies of DNA variations and dental implants did not indicate an increased risk for implant failure due to DNA variations in IL-1B, IL-10 and TNF-α. This study emphasizes the need for larger randomized controlled clinical trials to inform clinicians and patients about the role of genetic factors on dental implant survival and the success rate in healthy and compromised patients.
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    Genes, Vol. 9, Pages 452: Recent Selection on a Class I ADH Locus Distinguishes Southwest Asian Populations Including Ashkenazi Jews (2018)
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    Publication Date: 2018-09-08
    Description: Genes, Vol. 9, Pages 452: Recent Selection on a Class I ADH Locus Distinguishes Southwest Asian Populations Including Ashkenazi Jews Genes doi: 10.3390/genes9090452 Authors: Sheng Gu Hui Li Andrew Pakstis William Speed David Gurwitz Judith Kidd Kenneth Kidd The derived human alcohol dehydrogenase (ADH)1B*48His allele of the ADH1B Arg48His polymorphism (rs1229984) has been identified as one component of an East Asian specific core haplotype that underwent recent positive selection. Our study has been extended to Southwest Asia and additional markers in East Asia. Fst values (Sewall Wright’s fixation index) and long-range haplotype analyses identify a strong signature of selection not only in East Asian but also in Southwest Asian populations. However, except for the ADH2B*48His allele, different core haplotypes occur in Southwest Asia compared to East Asia and the extended haplotypes also differ. Thus, the ADH1B*48His allele, as part of a core haplotype of 10 kb, has undergone recent rapid increases in frequency independently in the two regions after divergence of the respective populations. Emergence of agriculture may be the common factor underlying the evident selection.
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    Genes, Vol. 9, Pages 448: Epigenetic Control of Pancreatic Regeneration in Diabetes (2018)
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    Publication Date: 2018-09-08
    Description: Genes, Vol. 9, Pages 448: Epigenetic Control of Pancreatic Regeneration in Diabetes Genes doi: 10.3390/genes9090448 Authors: Shruti Balaji Tiziana Napolitano Serena Silvano Marika Elsa Friano Anna Garrido-Utrilla Josipa Atlija Patrick Collombat Both type 1 and type 2 diabetes are conditions that are associated with the loss of insulin-producing β-cells within the pancreas. An active research therefore aims at regenerating these β-cells with the hope that they could restore euglycemia. The approaches classically used consist in mimicking embryonic development, making use of diverse cell sources or converting pre-existing pancreatic cells. Despite impressive progresses and promising successes, it appears that we still need to gain further insight into the molecular mechanisms underlying β-cell development. This becomes even more obvious with the emergence of a relatively new field of research, epigenetics. The current review therefore focuses on the latest advances in this field in the context of β-cell (neo-)genesis research.
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    Genes, Vol. 9, Pages 455: Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy (2018)
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    Publication Date: 2018-09-12
    Description: Genes, Vol. 9, Pages 455: Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy Genes doi: 10.3390/genes9090455 Authors: Liliana Matos Ana Joana Duarte Diogo Ribeiro João Chaves Olga Amaral Sandra Alves Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. A specific locked nucleic acid (LNA) antisense oligonucleotide was designed to block a cryptic 5′ss in intron 1. Overall, this approach allowed the restoration of the normal splicing pattern. Furthermore, the recovery was both sequence and dose-specific. In general, this work provides a proof of principle on the correction of a CSTB gene defect causing ULD through a mutation-specific antisense therapy. It adds evidence to the feasibility of this approach, joining the many studies that are paving the way for translating antisense technology into the clinical practice. The insights detailed herein make mutation-based therapy a clear candidate for personalized treatment of ULD patients, encouraging similar investigations into other genetic diseases.
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    Genes, Vol. 9, Pages 457: Correction: Li, X.; et al. Identification and Characterization of the WOX Family Genes in Five Solanaceae Species Reveal Their Conserved Roles in Peptide Signaling. Genes 2018, 9, 260. (2018)
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    Publication Date: 2018-09-14
    Description: Genes, Vol. 9, Pages 457: Correction: Li, X.; et al. Identification and Characterization of the WOX Family Genes in Five Solanaceae Species Reveal Their Conserved Roles in Peptide Signaling. Genes 2018, 9, 260. Genes doi: 10.3390/genes9090457 Authors: Xiaoxu Li Madiha Hamyat Cheng Liu Salman Ahmad Xiaoming Gao Cun Guo Yuanying Wang Yongfeng Guo The authors wish to make the following change in their paper [...]
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