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  11. Archaic Introgression Contributed To Shape The Adaptive Modulation Of Angiogenesis And Cardiovascular Traits In Human High-altitude Populations From The Himalayas.
  1. Home
  3. Research Domains
  5. History, Heritage And Archaeology
  7. Historical Studies
  9. History Of Empires, Imperialism And Colonialism
  11. Archaic Introgression Contributed To Shape The Adaptive Modulation Of Angiogenesis And Cardiovascular Traits In Human High-altitude Populations From The Himalayas.

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Archaic introgression contributed to shape the adaptive modulation of angiogenesis and cardiovascular traits in human high-altitude populations from the Himalayas.

Giulia Ferraretti1, Paolo Abondio2, Marta Alberti1

  • 1Laboratory of Molecular Anthropology and Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.

Elife
|November 8, 2024

View abstract on PubMed

Summary
This summary is machine-generated.
Keywords:
Denisovan introgressionHimalayan populationsevolutionary biologygenetics

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Archaic introgression, gene flow from extinct humans, shaped adaptation to high altitudes. Denisovan DNA in Tibetan/Sherpa populations influenced genes related to blood vessel formation and cardiovascular traits, aiding survival in low-oxygen environments.

Area of Science:

  • Human evolutionary genetics
  • Population genomics
  • Physiological adaptation

Background:

  • Human populations exhibit admixture with extinct hominins, influencing adaptation to environmental pressures.
  • Archaic adaptive introgression, exemplified by the EPAS1 gene in Denisovan-admixed highlanders, aids survival.
  • Tibetan/Sherpa populations display complex adaptations to hypobaric hypoxia, potentially involving archaic introgression.

Purpose of the Study:

  • Investigate the impact of archaic introgression on complex adaptive responses to hypobaric hypoxia in Tibetan/Sherpa ancestries.
  • Identify adaptive loci within introgressed segments carrying Denisovan-like alleles.
  • Explore gene networks involved in high-altitude adaptation mediated by archaic admixture.

Main Methods:

genomics
human
polygenic adaptation
  • Utilized composite-likelihood and gene network-based methods on Tibetan whole-genome sequencing (WGS) data.
  • Detected adaptive loci in introgressed chromosomal segments.
  • Filtered for Denisovan-like derived alleles absent in non-admixed African populations.

    • Main Results:

    • Identified multiple genes involved in archaic introgression events.
    • Highlighted TBC1D1, RASGRF2, PRKAG2, and KRAS as key contributors to adaptation.
    • These genes plausibly modulate angiogenesis and cardiovascular traits in high-altitude populations.

    Conclusions:

    • Archaic introgression significantly contributes to the complex adaptive phenotype of Himalayan highlanders.
    • Denisovan admixture influenced genes regulating angiogenesis and cardiovascular function, crucial for hypobaric hypoxia adaptation.
    • Findings reveal intricate genetic interactions underlying human adaptation to extreme environments.