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Admixture facilitates genetic adaptations to high altitude in Tibet

Author

Listed:
  • 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
    Howard Hughes Medical Institute, Chevy Chase
    Present address: Departments of Genetics and Biology, Stanford University, Stanford, California 94305-5020, USA)

  • Cynthia M. Beall

    (Case Western Reserve University)

  • Anna Di Rienzo

    (University of Chicago)

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.

Suggested Citation

  • Choongwon Jeong & Gorka Alkorta-Aranburu & Buddha Basnyat & Maniraj Neupane & David B. Witonsky & Jonathan K. Pritchard & Cynthia M. Beall & Anna Di Rienzo, 2014. "Admixture facilitates genetic adaptations to high altitude in Tibet," Nature Communications, Nature, vol. 5(1), pages 1-7, May.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms4281
    DOI: 10.1038/ncomms4281
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    Cited by:

    1. Mathilde André & Nicolas Brucato & Georgi Hudjasov & Vasili Pankratov & Danat Yermakovich & Francesco Montinaro & Rita Kreevan & Jason Kariwiga & John Muke & Anne Boland & Jean-François Deleuze & Vinc, 2024. "Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    2. Chi-Chun Liu & David Witonsky & Anna Gosling & Ju Hyeon Lee & Harald Ringbauer & Richard Hagan & Nisha Patel & Raphaela Stahl & John Novembre & Mark Aldenderfer & Christina Warinner & Anna Di Rienzo &, 2022. "Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors," Nature Communications, Nature, vol. 13(1), pages 1-14, December.

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