Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 113, Issue 27, Pages 7485-7490Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1520844113
Keywords
Ancient DNA; population genetics; high altitude; EGLN1; EPAS1
Categories
Funding
- US National Science Foundation [ATM/HSD-057620, BCS-1528698]
- US National Institutes of Health [R01HL119577]
- European Research Council [311413]
- University of Chicago Comprehensive Cancer Center [P30 CA14599]
- Genomics Core Facility, the National Geographic Society
- Henry Luce Foundation
- Samsung Scholarship
- North Face company
- Field Museum
- Division Of Behavioral and Cognitive Sci
- Direct For Social, Behav & Economic Scie [1528698] Funding Source: National Science Foundation
- European Research Council (ERC) [311413] Funding Source: European Research Council (ERC)
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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.
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