Biology Faculty Articles

Title

Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc

Document Type

Article

Publication Date

7-5-2016

Publication Title

Proceedings of the National Academy of Sciences of the United States of America

Keywords

Ancient DNA, Population genetics, High Altitude, EGLN1, EPAS1

ISSN

0027-8424

Volume

113

Issue/No.

27

First Page

7485

Last Page

7490

Abstract

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 (0.04×–7.25×, mean 2.16×) and mitochondrial genomes (20.8×–1,311.0×, mean 482.1×) 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.

Comments

Freely available online through the PNAS open access option

pnas.1520844113.sapp.pdf (16232 kB)
Supplemental Information

ORCID ID

0000-0003-4540-7106

ResearcherID

D-1147-2018

DOI

10.1073/pnas.1520844113

Peer Reviewed

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