Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc.
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.
Department of Human Genetics, University of Chicago, Chicago, IL 60637;
Choongwon
C
Jeong
Department of Anthropology, University of Oklahoma, Norman, OK 73019;
Andrew T
AT
Ozga
Department of Human Genetics, University of Chicago, Chicago, IL 60637;
David B
DB
Witonsky
Department of Organismal Biology, Uppsala University, Uppsala SE-752 36, Sweden;
Helena
H
Malmström
Department of Organismal Biology, Uppsala University, Uppsala SE-752 36, Sweden;
Hanna
H
Edlund
Department of Anthropology, University of Oklahoma, Norman, OK 73019;
Courtney A
CA
Hofman
Department of Anthropology, University of Oklahoma, Norman, OK 73019;
Richard W
RW
Hagan
Department of Organismal Biology, Uppsala University, Uppsala SE-752 36, Sweden;
Mattias
M
Jakobsson
Department of Anthropology, University of Oklahoma, Norman, OK 73019;
Cecil M
CM
Lewis
School of Social Sciences, Humanities, and Arts, University of California, Merced, CA 95343; christina.warinner@ou.edu maldenderfer@ucmerced.edu dirienzo@bsd.uchicago.edu.
Mark S
MS
Aldenderfer
Department of Human Genetics, University of Chicago, Chicago, IL 60637; christina.warinner@ou.edu maldenderfer@ucmerced.edu dirienzo@bsd.uchicago.edu.
Anna
A
Di Rienzo
Department of Anthropology, University of Oklahoma, Norman, OK 73019; Institute of Evolutionary Medicine, University of Zurich, Zurich CH-8057, Switzerland christina.warinner@ou.edu maldenderfer@ucmerced.edu dirienzo@bsd.uchicago.edu.
Christina
0000-0002-4528-5877
C
Warinner
D000531:Altitude; D051456:Gene Flow; D015894:Genome, Human; D006801:Humans; D009390:Nepal; D010161:Paleodontology; D058974:Phylogeography; D017422:Sequence Analysis, DNA; D018609:Tibet
Ancient DNA; EGLN1; EPAS1; high altitude; population genetics