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Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA..
Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA..
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA..
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Evolution and Developmental Biology.
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2016 (English)In: Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, E-ISSN 1091-6490, Vol. 113, no 27, 7485-7490 p.Article in journal (Refereed) PublishedText
Abstract [en]

The high-altitude transverse valleys [>3,000 m above sea level (masl)] of the Himalayan arc from Arunachal Pradesh to Ladahk were among the last habitable places permanently colonized by prehistoric humans due to the challenges of resource scarcity, cold stress, and hypoxia. The modern populations of these valleys, who share cultural and linguistic affinities with peoples found today on the Tibetan plateau, are commonly assumed to be the descendants of the earliest inhabitants of the Himalayan arc. However, this assumption has been challenged by archaeological and osteological evidence suggesting that these valleys may have been originally populated from areas other than the Tibetan plateau, including those at low elevation. To investigate the peopling and early population history of this dynamic high-altitude contact zone, we sequenced the genomes (0.04x-7.25x, mean 2.16x) and mitochondrial genomes (20.8x-1,311.0x, mean 482.1x) of eight individuals dating to three periods with distinct material culture in the Annapurna Conservation Area (ACA) of Nepal, spanning 3,150-1,250 y before present (yBP). We demonstrate that the region is characterized by long-term stability of the population genetic make-up despite marked changes in material culture. The ancient genomes, uniparental haplotypes, and high-altitude adaptive alleles suggest a high-altitude East Asian origin for prehistoric Himalayan populations.

Place, publisher, year, edition, pages
2016. Vol. 113, no 27, 7485-7490 p.
Keyword [en]
Ancient DNA, population genetics, high altitude, EGLN1, EPAS1
National Category
Genetics
Identifiers
URN: urn:nbn:se:uu:diva-300042DOI: 10.1073/pnas.1520844113ISI: 000379021700061PubMedID: 27325755OAI: oai:DiVA.org:uu-300042DiVA: diva2:950776
Funder
NIH (National Institute of Health), R01HL119577EU, European Research Council, 311413
Available from: 2016-08-02 Created: 2016-08-02 Last updated: 2016-08-02Bibliographically approved

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Malmström, HelenaEdlund, HannaJakobsson, Mattias
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