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Cited by 105Pleistocene-Era Hominins and ArchaeologyForensic and Genetic ResearchGenetic diversity and population structure

The history and evolution of the Denisovan- EPAS1 haplotype in Tibetans

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Zhang, Xinjun, Witt, Kelsey E., Bañuelos, Mayra M., Ko, Amy, Yuan, Kai, Xu, Shuhua, Nielsen, Rasmus, Huerta-Sanchez, Emilia·2021·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.2020803118PMC PMC8179186

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Abstract

Significance: The discovery of the archaic Denisovan hominins is one of the most significant findings in human evolutionary biology in the last decade. However, as of today, we have more questions than answers regarding this mysterious hominin group. This study leverages the information from the well-known example of adaptive introgression on the EPAS1 gene in Tibetans, to gain insight on the history of our species’ interaction with Denisovans. We show that the Tibetan- EPAS1 haplotype came from the East Asian-specific Denisovan introgression event, and it remained selectively neutral for a long time in the population before positive selection occurred, which may be concurrent with the permanent inhabitation of the Tibetan Plateau after the Last Glacial Maximum (LGM).

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  • The sPrime algorithm misses some alleles that have previously been identified as archaic in origin.

    “We used this method to expand the set of SNPs identified as archaic using sPrime, as other studies have indicated that the sPrime algorithm misses some alleles that have previously been identified as archaic in origin (Browning et al. 2018a; Zhang et al. 2021).”

    From The Impact of Modern Admixture on Archaic Human Ancestry in Human Populations (2023) · cites this paper as Zhang et al. 2021

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Cited by

Sorted by citations

Authors
Zhang, X., Witt, K. E., Bañuelos, M. M., Ko, A., Yuan, K., Xu, S., Nielsen, R., & Huerta-Sanchez, E.
Affiliations
  • University of California, Los Angeles (US)
  • Brown University (US)
  • University of California, Berkeley (US)
  • Chinese Academy of Sciences (CN)
  • University of Copenhagen (DK)
  • Department of Ecology and Evolutionary Biology, Brown University, Providence, RI 02912;
ORCID
Venue
Proceedings of the National Academy of Sciences
Publisher
National Academy of Sciences
Published
2021-05-28
Volume
118
Issue
22
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
DOI
10.1073/pnas.2020803118
PMC
PMC8179186
OpenAlex
W3165191878
Cited by
105
References
11
Citations by year
2026: 9 · 2025: 19 · 2024: 25 · 2023: 20 · 2022: 19 · 2021: 13
FWCI
73.26
Type
journal article
Language
en
Open access
Licence
Locations
  • Proceedings of the National Academy of Sciences (publishedVersion, cc-by-nc-nd)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
  • PubMed (publishedVersion)
  • Digital Commons - University of South Florida (University of South Florida) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
Funders
HHS | NIH | National Institute of General Medical Sciences (R35GM128946)
Topics
  • Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords
Denisovans, EPAS1, Tibetan Plateau, adaptive introgression, archaic human admixture, positive selection, Last Glacial Maximum, high-altitude adaptation
MeSH terms
Endothelial PAS Domain-Containing Protein 1, Adaptation, Physiological, Altitude, Haplotypes, Humans, Tibet, Evolution, Molecular, Basic Helix-Loop-Helix Proteins, Basic Helix-Loop-Helix Transcription Factors

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