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PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr.

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Author information

1
Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
2
Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.
3
Institute for Systems Biology, Seattle, Washington, United States of America.
4
Department of Anthropology, University of Utah, Salt Lake City, Utah, United States of America.
5
Department of Medicine, University of Utah School of Medicine and George E. Wahlin Veterans Administration Medical Center, Salt Lake City, Utah, United States of America.
6
Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America.
7
Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland.
8
Skaggs School of Pharmacy and Pharmaceutical Science, UC San Diego, La Jolla, California, United States of America.
9
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom.
10
Department of Medicine, Division of Physiology, University of California San Diego, La Jolla, California, United States of America.

Abstract

The indigenous people of the Tibetan Plateau have been the subject of much recent interest because of their unique genetic adaptations to high altitude. Recent studies have demonstrated that the Tibetan EPAS1 haplotype is involved in high altitude-adaptation and originated in an archaic Denisovan-related population. We sequenced the whole-genomes of 27 Tibetans and conducted analyses to infer a detailed history of demography and natural selection of this population. We detected evidence of population structure between the ancestral Han and Tibetan subpopulations as early as 44 to 58 thousand years ago, but with high rates of gene flow until approximately 9 thousand years ago. The CMS test ranked EPAS1 and EGLN1 as the top two positive selection candidates, and in addition identified PTGIS, VDR, and KCTD12 as new candidate genes. The advantageous Tibetan EPAS1 haplotype shared many variants with the Denisovan genome, with an ancient gene tree divergence between the Tibetan and Denisovan haplotypes of about 1 million years ago. With the exception of EPAS1, we observed no evidence of positive selection on Denisovan-like haplotypes.

PMID:
28448578
PMCID:
PMC5407610
DOI:
10.1371/journal.pgen.1006675
[Indexed for MEDLINE]
Free PMC Article

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