ALBERT

Beschreibung: Dyskerin is a nucleolar protein encoded by the DKC1 gene that (i) stabilizes the RNA component of the telomerase complex, and (ii) drives the site-specific pseudouridilation of rRNA. It is known that the partial lack of dyskerin function causes a defect in the translation of a subgroup of mRNAs containing internal ribosome entry site (IRES) elements such as those encoding for the tumor suppressors p27 and p53. In this study, we aimed to analyze what is the effect of the lack of dyskerin on the IRES-mediated translation of mRNAs encoding for vascular endothelial growth factor (VEGF). We transiently reduced dyskerin expression and measured the levels of the IRES-mediated translation of the mRNA encoding for VEGF in vitro in transformed and primary cells. We demonstrated a significant increase in the VEGF IRES-mediated translation after dyskerin knock-down. This translational modulation induces an increase in VEGF production in the absence of a significant upregulation in VEGF mRNA levels. The analysis of a list of viral and cellular IRESs indicated that dyskerin depletion can differentially affect IRES-mediated translation. These results indicate for the first time that dyskerin inhibition can upregulate the IRES translation initiation of specific mRNAs.

Beschreibung: Organic and low-input food systems are emerging worldwide in answer to the sustainability crisis of the conventional agri-food sector. “Alternative” systems are based on local, decentralized approaches to production and processing, regarding quality and health, and short supply-chains for products with strong local identities. Diversity is deeply embedded in these food systems, from the agrobiodiversity grown in farmers’ fields, which improves resilience and adaptation, to diverse approaches, contexts and actors in food manufacturing and marketing. Diversity thus becomes a cross-sectoral issue which acknowledges consumers’ demand for healthy products. In the framework of the European project “CERERE, CEreal REnaissance in Rural Europe: embedding diversity in organic and low-input food systems”, the paper aims at reviewing recent research on alternative and sustainable food systems by adopting an innovative and participatory multi-actor approach; this has involved ten practitioners and twenty-two researchers from across Europe and a variety of technical backgrounds in the paper and analysis stages. The participatory approach is the main innovation and distinctive feature of this literature review. Partners selected indeed what they perceived as most relevant in order to facilitate a transition towards more sustainable and diversity based cereal systems and food chains. This includes issues related to alternative food networks, formal and informal institutional settings, grass root initiatives, consumer involvement and, finally, knowledge exchange and sustainability. The review provides an overview of recent research that is relevant to CERERE partners as well as to anyone interested in alternative and sustainable food systems. The main objective of this paper was indeed to present a narrative of studies, which can form the foundation for future applied research to promote alternative methods of cereal production in Europe.

Beschreibung: Gibbons (Hylobatidae) shared a common ancestor with the other hominoids only 15–18 million years ago. Nevertheless, gibbons show very distinctive features that include heavily rearranged chromosomes. Previous observations indicate that this phenomenon may be linked to the attenuated epigenetic repression of transposable elements (TEs) in gibbon species. Here we describe the massive expansion of a repeat in almost all the centromeres of the eastern hoolock gibbon ( Hoolock leuconedys ). We discovered that this repeat is a new composite TE originating from the combination of portions of three other elements (L1ME5, Alu Sz6, and SVA_A) and thus named it LAVA. We determined that this repeat is found in all the gibbons but does not occur in other hominoids. Detailed investigation of 46 different LAVA elements revealed that the majority of them have target site duplications (TSDs) and a poly-A tail, suggesting that they have been retrotransposing in the gibbon genome. Although we did not find a direct correlation between the emergence of LAVA elements and human–gibbon synteny breakpoints, this new composite transposable element is another mark of the great plasticity of the gibbon genome. Moreover, the centromeric expansion of LAVA insertions in the hoolock closely resembles the massive centromeric expansion of the KERV-1 retroelement reported for wallaby (marsupial) interspecific hybrids. The similarity between the two phenomena is consistent with the hypothesis that evolution of the gibbons is characterized by defects in epigenetic repression of TEs, perhaps triggered by interspecific hybridization.

Beschreibung: Industrial Hemp, Cannabis sativa L., is characterized by low content of THC (〈0.2%). An edible oil with excellent nutritional proprieties is obtained from cold pressing of hempseed. Since Hempseed oil is not reported in a Regulation yet, in order to ensure quality parameters, it is necessary to optimize standard methods (taken from the Regulation for EVOO). In this work, the standard method of quality parameters (free fatty acidity, peroxide number, and anisidine number) were miniaturized and optimized for Hempseed oil matrix. The miniaturized methods result in being sustainable, in environmental and economical perspectives, by using a smaller amount of chemicals (e.g., reagents, solvents), also reducing waste production and the sample needed in relation to the high cost of the Hempseed oil (60–70 €/L). The standard methods of miniaturization, carried out by using the Central Composite Design, allow for great saving of sample (5.35 g vs. 29 g) and reagents (up to 50%).

Beschreibung: The different generations of calc-silicate assemblages formed during sequential metasomatic events make the Campiglia Marittima magmatic–hydrothermal system a prominent case study to investigate the mobility of rare earth element (REE) and other trace elements. These mineralogical assemblages also provide information about the nature and source of metasomatizing fluids. Petrographic and geochemical investigations of granite, endoskarn, and exoskarn bodies provide evidence for the contribution of metasomatizing fluids from an external source. The granitic pluton underwent intense metasomatism during post-magmatic fluid–rock interaction processes. The system was initially affected by a metasomatic event characterized by circulation of K-rich and Ca(-Mg)-rich fluids. A potassic metasomatic event led to the complete replacement of magmatic biotite, plagioclase, and ilmenite, promoting major element mobilization and crystallization of K-feldspar, phlogopite, chlorite, titanite, and rutile. The process resulted in significant gain of K, Rb, Ba, and Sr, accompanied by loss of Fe and Na, with metals such as Cu, Zn, Sn, W, and Tl showing significant mobility. Concurrently, the increasing fluid acidity, due to interaction with Ca-rich fluids, resulted in a diffuse Ca-metasomatism. During this stage, a wide variety of calc-silicates formed (diopside, titanite, vesuvianite, garnet, and allanite), throughout the granite body, along granite joints, and at the carbonate–granite contact. In the following stage, Ca-F-rich fluids triggered the acidic metasomatism of accessory minerals and the mobilization of high-field-strength elements (HFSE) and REE. This stage is characterized by the exchange of major elements (Ti, Ca, Fe, Al) with HFSE and REE in the forming metasomatic minerals (i.e., titanite, vesuvianite) and the crystallization of HFSE-REE minerals. Moreover, the observed textural disequilibrium of newly formed minerals (pseudomorphs, patchy zoning, dissolution/reprecipitation textures) suggests the evolution of metasomatizing fluids towards more acidic conditions at lower temperatures. In summary, the selective mobilization of chemical components was related to a shift in fluid composition, pH, and temperature. This study emphasizes the importance of relating field studies and petrographic observations to detailed mineral compositions, leading to the construction of litho-geochemical models for element mobilization in crustal magmatic-hydrothermal settings.

Beschreibung: The mechanism for generating double minutes chromosomes (dmin) and homogeneously staining regions (hsr) in cancer is still poorly understood. Through an integrated approach combining next-generation sequencing, single nucleotide polymorphism array, fluorescent in situ hybridization and polymerase chain reaction-based techniques, we inferred the fine structure of MYC -containing dmin/hsr amplicons harboring sequences from several different chromosomes in seven tumor cell lines, and characterized an unprecedented number of hsr insertion sites. Local chromosome shattering involving a single-step catastrophic event (chromothripsis) was recently proposed to explain clustered chromosomal rearrangements and genomic amplifications in cancer. Our bioinformatics analyses based on the listed criteria to define chromothripsis led us to exclude it as the driving force underlying amplicon genesis in our samples. Instead, the finding of coexisting heterogeneous amplicons, differing in their complexity and chromosome content, in cell lines derived from the same tumor indicated the occurrence of a multi-step evolutionary process in the genesis of dmin/hsr. Our integrated approach allowed us to gather a complete view of the complex chromosome rearrangements occurring within MYC amplicons, suggesting that more than one model may be invoked to explain the origin of dmin/hsr in cancer. Finally, we identified PVT1 as a target of fusion events, confirming its role as breakpoint hotspot in MYC amplification.

Beschreibung: Digital experts rigorously apply the principles of sharpness and semantics whereas analog experts pay less attention to these principles. We therefore put forward a way to distinguish the digital paradigm from the analog paradigm: the former adheres to these principle through precise rules; the latter adheres to them in generic and imprecise terms.

Beschreibung: Synapsin I (SynI) is a synaptic vesicle (SV) phosphoprotein playing multiple roles in synaptic transmission and plasticity by differentially affecting crucial steps of SV trafficking in excitatory and inhibitory synapses. SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene have a causal role in idiopathic epilepsy and autism. To get insights into the mechanisms of epileptogenesis linked to SYN1 mutations, we analyzed the effects of the recently identified Q555X mutation on neurotransmitter release dynamics and short-term plasticity (STP) in excitatory and inhibitory synapses. We used patch-clamp electrophysiology coupled to electron microscopy and multi-electrode arrays to dissect synaptic transmission of primary SynI KO hippocampal neurons in which the human wild-type and mutant SynI were expressed by lentiviral transduction. A parallel decrease in the SV readily releasable pool in inhibitory synapses and in the release probability in excitatory synapses caused a marked reduction in the evoked synchronous release. This effect was accompanied by an increase in asynchronous release that was much more intense in excitatory synapses and associated with an increased total charge transfer. Q555X-hSynI induced larger facilitation and post-tetanic potentiation in excitatory synapses and stronger depression after long trains in inhibitory synapses. These changes were associated with higher network excitability and firing/bursting activity. Our data indicate that imbalances in STP and release dynamics of inhibitory and excitatory synapses trigger network hyperexcitability potentially leading to epilepsy/autism manifestations.

Beschreibung: This paper presents an approach for evaluating the horizontal stresses that develop in geotechnical Direct Simple Shear (DSS) tests through the use of high-resolution distributed fiber optic sensing. For this aim, fiber optics were embedded in 3D printed rings used for confining the soil in the test procedure. An analytical approach linking the measured spatially-distributed strain profile and the internal soil-ring contact stresses is developed in the paper. The method is based on representation of the contact stresses by a Fourier series expansion, and determining the coefficients of the series by minimizing the difference between the measured strain and the analytical strain within the linear elastic ring. The minimization problem results in a linear set of equations that can easily be solved for a given measurement. The approach is demonstrated on a set of drained DSS tests on clean sand specimens. Stress paths using the evaluated horizontal stresses are plotted together with Mohr circles at failure. These illustrate how, in these specific tests, the horizontal stress increases and principal stress direction rotates, until failure occurs along horizontal planes.

Beschreibung: This study analyses Lithuanian residents’ willingness to pay (WTP) for the agricultural landscape in Lithuania. Since it is a part of the European Union, the agriculture is supported by the Common Agricultural Policy (CAP). According to CAP, agri-environmental schemes focus on the maintenance and improvement of agricultural landscape. Under these measures, Lithuanian farmers receive payments for the creation of agricultural landscape services. Therefore, understanding the demand of such agricultural landscape services, as received by the society, may help policymakers better allocate the funds. The present study has revealed that Lithuanian residents are concerned about the maintenance and preservation of the agricultural landscape. Moreover, they demand provision of the agricultural landscape services. Application of the contingent valuation method has shown that the median WTP of 23.59 €/year per family for agricultural landscape services, which is influenced by socioeconomic characteristics. The findings of the present study provide quantitative information about the demand for agricultural landscape services, which could be used to improve the agri-environmental policy, substantiating the internalization of positive and negative externalities (e.g., agricultural landscape services) to the performance of farmers.