Admixture facilitates genetic adaptations to high altitude in Tibet

Choongwon Jeong, Gorka Alkorta-Aranburu, Buddha Basnyat, Maniraj Neupane, David B. Witonsky, Jonathan K. Pritchard, Cynthia M. Beall and Anna Di Rienzo ()
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Choongwon Jeong: University of Chicago
Gorka Alkorta-Aranburu: University of Chicago
Buddha Basnyat: Oxford University Clinical Research Unit, Patan Hospital, Lal Durbar marg, GPO Box 3596
Maniraj Neupane: Mountain Medicine Society of Nepal, Maharajgunj
David B. Witonsky: University of Chicago
Jonathan K. Pritchard: University of Chicago
Cynthia M. Beall: Case Western Reserve University
Anna Di Rienzo: University of Chicago

Nature Communications, 2014, vol. 5, issue 1, 1-7

Abstract: Abstract Admixture is recognized as a widespread feature of human populations, renewing interest in the possibility that genetic exchange can facilitate adaptations to new environments. Studies of Tibetans revealed candidates for high-altitude adaptations in the EGLN1 and EPAS1 genes, associated with lower haemoglobin concentration. However, the history of these variants or that of Tibetans remains poorly understood. Here we analyse genotype data for the Nepalese Sherpa, and find that Tibetans are a mixture of ancestral populations related to the Sherpa and Han Chinese. EGLN1 and EPAS1 genes show a striking enrichment of high-altitude ancestry in the Tibetan genome, indicating that migrants from low altitude acquired adaptive alleles from the highlanders. Accordingly, the Sherpa and Tibetans share adaptive haemoglobin traits. This admixture-mediated adaptation shares important features with adaptive introgression. Therefore, we identify a novel mechanism, beyond selection on new mutations or on standing variation, through which populations can adapt to local environments.

Date: 2014
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DOI: 10.1038/ncomms4281

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