ArticleHuman genetics2016
Wide distribution and altitude correlation of an archaic high-altitude-adaptive EPAS1 haplotype in the Himalayas.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 53 citations in OpenAlex.
- Environmental adaptation and sleep disturbance: a cross-sectional study reveals distinct metabolic risk profiles in long-term high-altitude residents versus the general population.Frontiers in psychiatry · 2026Article
- Dynamic human admixture histories over the past ~1300 years at the northern Himalayan frontier.Science advances · 2025Article
- Population genomics advances in frontier ethnic minorities in China.Science China. Life sciences · 2025Review
- Whole Genome Analysis Reveals Evolutionary History and Introgression Events in Bale Monkeys.Genes · 2024Article
- Landscape genomics reveals regions associated with adaptive phenotypic and genetic variation in Ethiopian indigenous chickens.BMC genomics · 2024Article
- More than a decade of genetic research on the Denisovans.Nature reviews. Genetics · 2024Review
- Hypoxia Inducible Factor pathway proteins in high-altitude mammals.Trends in biochemical sciences · 2024Review
- A caste differentiation mutant elucidates the evolution of socially parasitic ants.Current biology : CB · 2023Article
- MaLAdapt Reveals Novel Targets of Adaptive Introgression From Neanderthals and Denisovans in Worldwide Human Populations.Molecular biology and evolution · 2023Article
- Markhor-derived Introgression of a Genomic Region Encompassing PAPSS2 Confers High-altitude Adaptability in Tibetan Goats.Molecular biology and evolution · 2022Article
- Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.Human genomics · 2022Review
- Denisovans and Homo sapiens on the Tibetan Plateau: dispersals and adaptations.Trends in ecology & evolution · 2022Review
- The history and evolution of the Denisovan-Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Inferring archaic introgression from hominin genetic data.Evolutionary anthropology · 2021Review
- Introgressive Hybridization and Hypoxia Adaptation in High-Altitude Vertebrates.Frontiers in genetics · 2021Review
- HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.Molecular genetics & genomic medicine · 2020Article
- Seq-ing Higher Ground: Functional Investigation of Adaptive Variation Associated With High-Altitude Adaptation.Frontiers in genetics · 2020Article
- Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.National science review · 2019Article
- Hybridization in human evolution: Insights from other organisms.Evolutionary anthropology · 2019Review
- Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-altitude ducks.Heredity · 2019Article
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Authors and funding
10 authors at 5 institutions in 5 countries.
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Abstract
High-altitude adaptation in Tibetans is influenced by introgression of a 32.7-kb haplotype from the Denisovans, an extinct branch of archaic humans, lying within the endothelial PAS domain protein 1 (EPAS1), and has also been reported in Sherpa. We genotyped 19 variants in this genomic region in 1507 Eurasian individuals, including 1188 from Bhutan and Nepal residing at altitudes between 86 and 4550 m above sea level. Derived alleles for five SNPs characterizing the core Denisovan haplotype (AGGAA) were present at high frequency not only in Tibetans and Sherpa, but also among many populations from the Himalayas, showing a significant correlation with altitude (Spearman's correlation coefficient = 0.75, p value 3.9 × 10(-11)). Seven East- and South-Asian 1000 Genomes Project individuals shared the Denisovan haplotype extending beyond the 32-kb region, enabling us to refine the haplotype structure and identify a candidate regulatory variant (rs370299814) that might be interacting in an additive manner with the derived G allele of rs150877473, the variant previously associated with high-altitude adaptation in Tibetans. Denisovan-derived alleles were also observed at frequencies of 3-14% in the 1000 Genomes Project African samples. The closest African haplotype is, however, separated from the Asian high-altitude haplotype by 22 mutations whereas only three mutations, including rs150877473, separate the Asians from the Denisovan, consistent with distant shared ancestry for African and Asian haplotypes and Denisovan adaptive introgression.
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