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  • 1
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    Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis (2016)
    Oxford University Press
    Details
    Publication Date: 2016-06-21
    Description: Mitochondrial DNA (mtDNA) rearrangements are an important cause of mitochondrial disease and age related mitochondrial dysfunction in tissues including brain and skeletal muscle. It is known that different mtDNA deletions accumulate in single cells, but the detailed nature of these rearrangements is still unknown. To evaluate this we used a complementary set of sensitive assays to explore the mtDNA rearrangements in individual cells from patients with sporadic inclusion body myositis, a late-onset inflammatory myopathy with prominent mitochondrial changes. We identified large-scale mtDNA deletions in individual muscle fibres with 20% of cytochrome c oxidase-deficient myofibres accumulating two or more mtDNA deletions. The majority of deletions removed only the major arc but ~10% of all deletions extended into the minor arc removing the origin of light strand replication (O L ) and a variable number of genes. Some mtDNA molecules contained two deletion sites. Additionally, we found evidence of mitochondrial genome duplications allowing replication and clonal expansion of these complex rearranged molecules. The extended spectrum of mtDNA rearrangements in single cells provides insight into the process of clonal expansion which is fundamental to our understanding of the role of mtDNA mutations in ageing and disease.
    Print ISSN: 0305-1048
    Electronic ISSN: 1362-4962
    Topics: Biology
    Published by Oxford University Press
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  • 2
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    Cosmological parameters from the comparison of peculiar velocities with predictions from the 2M++ density field (2015)
    Oxford University Press
    Details
    Publication Date: 2015-04-18
    Description: Peculiar velocity measurements are the only tool available in the low-redshift Universe for mapping the large-scale distribution of matter and can thus be used to constrain cosmology. Using redshifts from the 2M++ redshift compilation, we reconstruct the density of galaxies within 200 h –1 Mpc, allowing for the first time good sampling of important superclusters such as the Shapley Concentration. We compare the predicted peculiar velocities from 2M++ to Tully–Fisher and SNe peculiar velocities. We find a value of β* $\equiv \Omega _{\rm {m}}^{0.55}/b^* =$ 0.431 ± 0.021, suggesting $\Omega _{\rm {m}}^{0.55}\sigma _{\rm {8,lin}}$  = 0.401 ± 0.024, in good agreement with other probes. The predicted peculiar velocity of the Local Group arising from the 2M++ volume alone is 540 ± 40 km s –1 , towards l  = 268° ± 4°, b  = 38° ± 6°, only 10° out of alignment with the cosmic microwave background dipole. To account for velocity contributions arising from sources outside the 2M++ volume, we fit simultaneously for β* and an external bulk flow in our analysis. We find that an external bulk flow is preferred at the 5.1 level, and the best fit has a velocity of 159 ± 23 km s – 1 towards l  = 304° ± 11°, b  = 6° ± 13°. Finally, the predicted bulk flow of a 50 h –1 Mpc Gaussian-weighted volume centred on the Local Group is 230 ± 30 km s –1 , in the direction l  = 293° ± 8°, b  = 14° ± 10°, in agreement with predictions from cold dark matter.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
    Published by Oxford University Press
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  • 3
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    Expanded repeat in canine epilepsy (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-01-08
    Description: Epilepsy afflicts 1% of humans and 5% of dogs. We report a canine epilepsy mutation and evidence for the existence of repeat-expansion disease outside humans. A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy. Tracing the repeat origins revealed two successive events, starting 50 million years ago, unique to canid evolution. A genetic test, presented here, will allow carrier and presymptomatic diagnosis and disease eradication. Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lohi, Hannes -- Young, Edwin J -- Fitzmaurice, Susan N -- Rusbridge, Clare -- Chan, Elayne M -- Vervoort, Mike -- Turnbull, Julie -- Zhao, Xiao-Chu -- Ianzano, Leonarda -- Paterson, Andrew D -- Sutter, Nathan B -- Ostrander, Elaine A -- Andre, Catherine -- Shelton, G Diane -- Ackerley, Cameron A -- Scherer, Stephen W -- Minassian, Berge A -- New York, N.Y. -- Science. 2005 Jan 7;307(5706):81.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15637270" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Chromosome Mapping ; Cloning, Molecular ; *DNA Repeat Expansion ; Dog Diseases/*genetics ; Dogs/*genetics ; Female ; Lafora Disease/genetics/*veterinary ; Male ; Muscle, Skeletal/metabolism ; Pedigree ; Polymerase Chain Reaction ; RNA, Messenger/genetics/metabolism ; Sequence Analysis, DNA
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    14C activity and global carbon cycle changes over the past 50,000 years (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-01-13
    Description: A series of 14C measurements in Ocean Drilling Program cores from the tropical Cariaco Basin, which have been correlated to the annual-layer counted chronology for the Greenland Ice Sheet Project 2 (GISP2) ice core, provides a high-resolution calibration of the radiocarbon time scale back to 50,000 years before the present. Independent radiometric dating of events correlated to GISP2 suggests that the calibration is accurate. Reconstructed 14C activities varied substantially during the last glacial period, including sharp peaks synchronous with the Laschamp and Mono Lake geomagnetic field intensity minimal and cosmogenic nuclide peaks in ice cores and marine sediments. Simulations with a geochemical box model suggest that much of the variability can be explained by geomagnetically modulated changes in 14C production rate together with plausible changes in deep-ocean ventilation and the global carbon cycle during glaciation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hughen, K -- Lehman, S -- Southon, J -- Overpeck, J -- Marchal, O -- Herring, C -- Turnbull, J -- New York, N.Y. -- Science. 2004 Jan 9;303(5655):202-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Marine Chemistry and Geochemistry, Woods Hole Oceanographic Institution (WHOI), Woods Hole, MA 02543, USA. khughen@whoi.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14716006" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 5
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    Iconic CO2 time series at risk (2012)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2012-09-01
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Houweling, Sander -- Badawy, Bakr -- Baker, David F -- Basu, Sourish -- Belikov, Dmitry -- Bergamaschi, Peter -- Bousquet, Philippe -- Broquet, Gregoire -- Butler, Tim -- Canadell, Josep G -- Chen, Jing -- Chevallier, Frederic -- Ciais, Philippe -- Collatz, G James -- Denning, Scott -- Engelen, Richard -- Enting, Ian G -- Fischer, Marc L -- Fraser, Annemarie -- Gerbig, Christoph -- Gloor, Manuel -- Jacobson, Andrew R -- Jones, Dylan B A -- Heimann, Martin -- Khalil, Aslam -- Kaminski, Thomas -- Kasibhatla, Prasad S -- Krakauer, Nir Y -- Krol, Maarten -- Maki, Takashi -- Maksyutov, Shamil -- Manning, Andrew -- Meesters, Antoon -- Miller, John B -- Palmer, Paul I -- Patra, Prabir -- Peters, Wouter -- Peylin, Philippe -- Poussi, Zegbeu -- Prather, Michael J -- Randerson, James T -- Rockmann, Thomas -- Rodenbeck, Christian -- Sarmiento, Jorge L -- Schimel, David S -- Scholze, Marko -- Schuh, Andrew -- Suntharalingam, Parv -- Takahashi, Taro -- Turnbull, Jocelyn -- Yurganov, Leonid -- Vermeulen, Alex -- New York, N.Y. -- Science. 2012 Aug 31;337(6098):1038-40. doi: 10.1126/science.337.6098.1038-b.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22936755" target="_blank"〉PubMed〈/a〉
    Keywords: Atmosphere/*chemistry ; Carbon Dioxide/*analysis ; *Climate Change
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 6
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    Quantum criticality in the spin-1/2 Heisenberg chain system copper pyrazine dinitrate (2017)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2017-12-23
    Description: Low-dimensional quantum magnets promote strong correlations between magnetic moments that lead to fascinating quantum phenomena. A particularly interesting system is the antiferromagnetic spin-1/2 Heisenberg chain because it is exactly solvable by the Bethe-Ansatz method. It is approximately realized in the magnetic insulator copper pyrazine dinitrate, providing a unique opportunity for a quantitative comparison between theory and experiment. We investigate its thermodynamic properties with a particular focus on the field-induced quantum phase transition. Thermal expansion, magnetostriction, specific heat, magnetization, and magnetocaloric measurements are found to be in excellent agreement with exact Bethe-Ansatz predictions. Close to the critical field, thermodynamics obeys the expected quantum critical scaling behavior, and in particular, the magnetocaloric effect and the Grüneisen parameters diverge in a characteristic manner. Beyond its importance for quantum magnetism, our study establishes a paradigm of a quantum phase transition, which illustrates fundamental principles of quantum critical thermodynamics.
    Electronic ISSN: 2375-2548
    Topics: Natural Sciences in General
    Published by American Association for the Advancement of Science (AAAS)
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  • 7
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    Canopy position affects the relationships between leaf respiration and associated traits in a tropical rainforest in Far North Queensland (2014)
    Oxford University Press
    Details
    Publication Date: 2014-07-08
    Description: We explored the impact of canopy position on leaf respiration ( R ) and associated traits in tree and shrub species growing in a lowland tropical rainforest in Far North Queensland, Australia. The range of traits quantified included: leaf R in darkness ( R D ) and in the light ( R L ; estimated using the Kok method); the temperature ( T )-sensitivity of R D ; light-saturated photosynthesis ( A sat ); leaf dry mass per unit area (LMA); and concentrations of leaf nitrogen (N), phosphorus (P), soluble sugars and starch. We found that LMA, and area-based N, P, sugars and starch concentrations were all higher in sun-exposed/upper canopy leaves, compared with their shaded/lower canopy and deep-shade/understory counterparts; similarly, area-based rates of R D , R L and A sat (at 28 °C) were all higher in the upper canopy leaves, indicating higher metabolic capacity in the upper canopy. The extent to which light inhibited R did not differ significantly between upper and lower canopy leaves, with the overall average inhibition being 32% across both canopy levels. Log–log R D – A sat relationships differed between upper and lower canopy leaves, with upper canopy leaves exhibiting higher rates of R D for a given A sat (both on an area and mass basis), as well as higher mass-based rates of R D for a given [N] and [P]. Over the 25–45 °C range, the T- sensitivity of R D was similar in upper and lower canopy leaves, with both canopy positions exhibiting Q 10 values near 2.0 (i.e., doubling for every 10 °C rise in T ) and T max values near 60 °C (i.e., T where R D reached maximal values). Thus, while rates of R D at 28 °C decreased with increasing depth in the canopy, the T -dependence of R D remained constant; these findings have important implications for vegetation-climate models that seek to predict carbon fluxes between tropical lowland rainforests and the atmosphere.
    Print ISSN: 0829-318X
    Electronic ISSN: 1758-4469
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Published by Oxford University Press
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  • 8
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    (Table S1) Age determination of ODP Site 165-1002 (2004)
    PANGAEA
    In:  Supplement to: Hughen, Konrad A; Lehman, Scott J; Southon, John R; Overpeck, Jonathan T; Marchal, Olivier; Herring, C; Turnbull, J (2004): 14C Activity and Global Carbon Cycle Changes over the Past 50,000 Years. Science, 303(5655), 202-207, https://doi.org/10.1126/science.1090300
    Details
    Publication Date: 2024-01-09
    Description: A series of 14C measurements in Ocean Drilling Program cores from the tropical Cariaco Basin, which have been correlated to the annual-layer counted chronology for the Greenland Ice Sheet Project 2 (GISP2) ice core, provides a high-resolution calibration of the radiocarbon time scale back to 50,000 years before the present. Independent radiometric dating of events correlated to GISP2 suggests that the calibration is accurate. Reconstructed 14C activities varied substantially during the last glacial period, including sharp peaks synchronous with the Laschamp and Mono Lake geomagnetic field intensity minimal and cosmogenic nuclide peaks in ice cores and marine sediments. Simulations with a geochemical box model suggest that much of the variability can be explained by geomagnetically modulated changes in 14C production rate together with plausible changes in deep-ocean ventilation and the global carbon cycle during glaciation.
    Keywords: 165-1002; Age, 14C AMS; Age, 14C milieu/reservoir corrected; Age, dated; Age, dated material; Age, dated standard deviation; Calendar age; Calendar age, standard deviation; Cayman Rise, Caribbean Sea; Comment; COMPCORE; Composite Core; DEPTH, sediment/rock; Joides Resolution; Leg165; Ocean Drilling Program; ODP; Sample code/label; Δ14C; Δ14C, standard deviation
    Type: Dataset
    Format: text/tab-separated-values, 3013 data points
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  • 9
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    Age determination of ODP Site 165-1002 (2006)
    PANGAEA
    In:  Supplement to: Hughen, Konrad A; Southon, John R; Lehman, Scott J; Bertrand, Chanda J H; Turnbull, J (2006): Marine-derived 14C calibration and activity record for the past 50,000 years updated from the Cariaco Basin. Quaternary Science Reviews, 25(23-24), 3216-3227, https://doi.org/10.1016/j.quascirev.2006.03.014
    Details
    Publication Date: 2024-01-09
    Description: An expanded Cariaco Basin 14C chronology is tied to 230Th-dated Hulu Cave speleothem records in order to provide detailed marine-based 14C calibration for the past 50,000 years. The revised, high-resolution Cariaco 14C calibration record agrees well with data from 230Th-dated fossil corals back to 33 ka, with continued agreement despite increased scatter back to 50 ka, suggesting that the record provides accurate calibration back to the limits of radiocarbon dating. The calibration data document highly elevated Delta14C during the Glacial period. Carbon cycle box model simulations show that the majority of observed Delta14C change can be explained by increased 14C production. However, from 45 to 15 ka, Delta14C remains anomalously high, indicating that the distribution of radiocarbon between surface and deep ocean reservoirs was different than it is today. Additional observations of the magnitude, spatial extent and timing of deep ocean Delta14C shifts are critical for a complete understanding of observed Glacial Delta14C variability.
    Keywords: 165-1002; Age, 14C AMS; Age, 14C milieu/reservoir corrected; Age, dated; Age, dated material; Age, dated standard deviation; Calendar age; Calendar age, standard deviation; Cayman Rise, Caribbean Sea; Comment; Comment 2 (continued); COMPCORE; Composite Core; DEPTH, sediment/rock; DSDP/ODP/IODP sample designation; Joides Resolution; Leg165; Ocean Drilling Program; ODP; Sample code/label; Sample code/label 2; Δ14C; Δ14C, standard deviation
    Type: Dataset
    Format: text/tab-separated-values, 7383 data points
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  • 10
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    Marine-derived C-14 calibration and activity record for the past 50,000 years updated from the Cariaco Basin (2007)
    Details
    Publication Date: 2022-05-25
    Description: Author Posting. © Elsevier B.V., 2006. This is the author's version of the work. It is posted here by permission of Elsevier B.V. for personal use, not for redistribution. The definitive version was published in Quaternary Science Reviews 25 (2006): 3216-3227, doi:10.1016/j.quascirev.2006.03.014.
    Description: An expanded Cariaco Basin 14C chronology is tied to 230Th-dated Hulu Cave speleothem records in order to provide detailed marine-based 14C calibration for the past 50,000 years. The revised, high resolution Cariaco 14C calibration record agrees well with data from 230Th-dated fossil corals back to 33 ka, with continued agreement despite increased scatter back to 50 ka, suggesting that the record provides accurate calibration back to the limits of radiocarbon dating. The calibration data document highly elevated Δ14C during the Glacial period. Carbon cycle box model simulations show that the majority of observed Δ14C change can be explained by increased 14C production. However, from 45 to 15 ka, Δ14C remains anomalously high, indicating that the distribution of radiocarbon between surface and deep ocean reservoirs was different than it is today. Additional observations of the magnitude, spatial extent and timing of deep ocean Δ14C shifts are critical for a complete understanding of observed Glacial Δ14C variability.
    Repository Name: Woods Hole Open Access Server
    Type: Preprint
    Format: application/pdf
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