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A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations.(Report)(Author abstract)

Clemente, Florian J ; Cardona, Alexia ; Inchley, Charlotte E ; Peter, Benjamin M ; Jacobs, Guy ; Pagani, Luca ; Lawson, Daniel J ; Antão, Tiago ; Vicente, Mário ; Mitt, Mario ; Degiorgio, Michael ; Faltyskova, Zuzana ; Xue, Yali ; Ayub, Qasim ; Szpak, Michal ; Mägi, Reedik ; Eriksson, Anders ; Manica, Andrea ; Raghavan, Maanasa ; Rasmussen, Morten ; Rasmussen, Simon ; Willerslev, Eske ; Vidal-Puig, Antonio ; Tyler-Smith, Chris ; Villems, Richard ; Nielsen, Rasmus ; Metspalu, Mait ; Malyarchuk, Boris ; Derenko, Miroslava ; Kivisild, Toomas;

American Journal of Human Genetics, Nov 6, 2014, Vol.95(5), p.584(6) [Periódico revisado por pares]

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  • Título:
    A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations.(Report)(Author abstract)
  • Autor: Clemente, Florian J ; Cardona, Alexia ; Inchley, Charlotte E ; Peter, Benjamin M ; Jacobs, Guy ; Pagani, Luca ; Lawson, Daniel J ; Antão, Tiago ; Vicente, Mário ; Mitt, Mario ; Degiorgio, Michael ; Faltyskova, Zuzana ; Xue, Yali ; Ayub, Qasim ; Szpak, Michal ; Mägi, Reedik ; Eriksson, Anders ; Manica, Andrea ; Raghavan, Maanasa ; Rasmussen, Morten ; Rasmussen, Simon ; Willerslev, Eske ; Vidal-Puig, Antonio ; Tyler-Smith, Chris ; Villems, Richard ; Nielsen, Rasmus ; Metspalu, Mait ; Malyarchuk, Boris ; Derenko, Miroslava ; Kivisild, Toomas
  • Assuntos: Gene Mutation – Research ; Arctic Plants – Genetic Aspects ; Plant Populations – Genetic Aspects
  • É parte de: American Journal of Human Genetics, Nov 6, 2014, Vol.95(5), p.584(6)
  • Descrição: To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajhg.2014.09.016 Byline: Florian J. Clemente, Alexia Cardona, Charlotte E. Inchley, Benjamin M. Peter, Guy Jacobs, Luca Pagani, Daniel J. Lawson, Tiago Antao, Mario Vicente, Mario Mitt, Michael DeGiorgio, Zuzana Faltyskova, Yali Xue, Qasim Ayub, Michal Szpak, Reedik Magi, Anders Eriksson, Andrea Manica, Maanasa Raghavan, Morten Rasmussen, Simon Rasmussen, Eske Willerslev, Antonio Vidal-Puig, Chris Tyler-Smith, Richard Villems, Rasmus Nielsen, Mait Metspalu, Boris Malyarchuk, Miroslava Derenko, Toomas Kivisild Abstract: Arctic populations live in an environment characterized by extreme cold and the absence of plant foods for much of the year and are likely to have undergone genetic adaptations to these environmental conditions in the time they have been living there. Genome-wide selection scans based on genotype data from native Siberians have previously highlighted a 3 Mb chromosome 11 region containing 79 protein-coding genes as the strongest candidates for positive selection in Northeast Siberians. However, it was not possible to determine which of the genes might be driving the selection signal. Here, using whole-genome high-coverage sequence data, we identified the most likely causative variant as a nonsynonymous G>A transition (rs80356779; c.1436C>T [p.Pro479Leu] on the reverse strand) in CPT1A, a key regulator of mitochondrial long-chain fatty-acid oxidation. Remarkably, the derived allele is associated with hypoketotic hypoglycemia and high infant mortality yet occurs at high frequency in Canadian and Greenland Inuits and was also found at 68% frequency in our Northeast Siberian sample. We provide evidence of one of the strongest selective sweeps reported in humans; this sweep has driven this variant to high frequency in circum-Arctic populations within the last 6-23 ka despite associated deleterious consequences, possibly as a result of the selective advantage it originally provided to either a high-fat diet or a cold environment. Author Affiliation: (1) Department of Archaeology and Anthropology, University of Cambridge, Cambridge CB2 3QG, UK (2) Department of Integrative Biology, University of California, Berkeley, Berkeley, CA 94720-3140, USA (3) Mathematical Sciences, University of Southampton, Southampton SO17 1BJ, UK (4) Institute for Complex Systems Simulation, University of Southampton, Southampton SO17 1BJ, UK (5) Heilbronn Institute, School of Mathematics, University of Bristol, Bristol BS8 1TH, UK (6) Department of Vector Biology, Liverpool School of Tropical Medicine, Liverpool L3 5QA, UK (7) Estonian Genome Center, University of Tartu, Tartu 51010, Estonia (8) Department of Biology, Pennsylvania State University, University Park, PA 16802-5301, USA (9) Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK (10) Department of Zoology, University of Cambridge, Cambridge CB2 3EJ, UK (11) Integrative Systems Biology Laboratory, King Abdullah University of Science and Technology, Thuwal 23955-6900, Kingdom of Saudi Arabia (12) Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen 1350, Denmark (13) Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Kongens Lyngby 2800, Denmark (14) Medical Research Council Metabolic Diseases Unit, Department of Clinical Biochemistry, University of Cambridge and Institute of Metabolic Science, Cambridge CB2 2QR, UK (15) Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia (16) Estonian Biocentre, Tartu 51010, Estonia (17) Estonian Academy of Sciences, Tallinn 10130, Estonia (18) Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan 685000, Russia Article History: Received 1 August 2014; Accepted 29 September 2014 Article Note: (miscellaneous) Published: October 23, 2014
  • Idioma: Inglês

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