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Elephantid genomes reveal the molecular bases of Woolly Mammoth adaptations to the arctic

View ORCID ProfileVincent J. Lynch, View ORCID ProfileOscar C. Bedoya-Reina, View ORCID ProfileAakrosh Ratan, View ORCID ProfileMichael Sulak, View ORCID ProfileDaniela I. Drautz-Moses, View ORCID ProfileGeorge H. Perry, View ORCID ProfileWebb Miller, View ORCID ProfileStephan C. Schuster
doi: https://doi.org/10.1101/018366
Vincent J. Lynch
1Department of Human Genetics, The University of Chicago, 920 E. 58th Street, CLSC 319C, Chicago, IL 60637, USA.
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  • For correspondence: vjlynch@uchicago.edu webb@bx.psu.edu
Oscar C. Bedoya-Reina
2Center for Comparative Genomics and Bioinformatics, Pennsylvania State University, 506B Wartik Lab, University Park, PA 16802, USA.
3Current address: MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK.
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Aakrosh Ratan
2Center for Comparative Genomics and Bioinformatics, Pennsylvania State University, 506B Wartik Lab, University Park, PA 16802, USA.
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Michael Sulak
1Department of Human Genetics, The University of Chicago, 920 E. 58th Street, CLSC 319C, Chicago, IL 60637, USA.
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Daniela I. Drautz-Moses
2Center for Comparative Genomics and Bioinformatics, Pennsylvania State University, 506B Wartik Lab, University Park, PA 16802, USA.
5Current address: Singapore Centre on Environmental Life Sciences Engineering, Nanyang Technological University, 60 Nanyang Drive, SBS-01N-27, Singapore 637551.
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George H. Perry
6Departments of Anthropology and Biology, Pennsylvania State University, 513 Carpenter Building, University Park, PA 16802, USA.
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Webb Miller
2Center for Comparative Genomics and Bioinformatics, Pennsylvania State University, 506B Wartik Lab, University Park, PA 16802, USA.
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  • For correspondence: vjlynch@uchicago.edu webb@bx.psu.edu
Stephan C. Schuster
2Center for Comparative Genomics and Bioinformatics, Pennsylvania State University, 506B Wartik Lab, University Park, PA 16802, USA.
5Current address: Singapore Centre on Environmental Life Sciences Engineering, Nanyang Technological University, 60 Nanyang Drive, SBS-01N-27, Singapore 637551.
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SUMMARY

Woolly mammoths and the living elephants are characterized by major phenotypic differences that allowed them to live in very different environments. To identify the genetic changes that underlie the suite of adaptations in woolly mammoths to life in extreme cold, we sequenced the nuclear genome from three Asian elephants and two woolly mammoths, identified and functionally annotated genetic changes unique to the woolly mammoth lineage. We find that genes with mammoth specific amino acid changes are enriched in functions related to circadian biology, skin and hair development and physiology, lipid metabolism, adipose development and physiology, and temperature sensation. Finally we resurrect and functionally test the mammoth and ancestral elephant TRPV3 gene, which encodes a temperature sensitive transient receptor potential (thermoTRP) channel involved in thermal sensation and hair growth, and show that a single mammoth-specific amino acid substitution in an otherwise highly conserved region of the TRPV3 channel strongly affected its temperature sensitivity. Our results have identified a set of genetic changes that likely played important roles in the adaptation of woolly mammoths to life in the high artic.

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Posted April 23, 2015.
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Elephantid genomes reveal the molecular bases of Woolly Mammoth adaptations to the arctic
Vincent J. Lynch, Oscar C. Bedoya-Reina, Aakrosh Ratan, Michael Sulak, Daniela I. Drautz-Moses, George H. Perry, Webb Miller, Stephan C. Schuster
bioRxiv 018366; doi: https://doi.org/10.1101/018366
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Elephantid genomes reveal the molecular bases of Woolly Mammoth adaptations to the arctic
Vincent J. Lynch, Oscar C. Bedoya-Reina, Aakrosh Ratan, Michael Sulak, Daniela I. Drautz-Moses, George H. Perry, Webb Miller, Stephan C. Schuster
bioRxiv 018366; doi: https://doi.org/10.1101/018366

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