ArticlePLoS genetics2017
Evolutionary history of Tibetans inferred from whole-genome sequencing.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 125 citations in OpenAlex.
- Understanding physiological adaptations of pregnancy to the chronic hypoxia of high altitude to inform obstetrical and neonatal care.Physiological reviews · 2026Review
- Variants ofLife science alliance · 2026Article
- Comparative and population genomics analyses of eared pheasants inhabiting highly varying altitudes.BMC genomics · 2026Article
- Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.Genes & diseases · 2026Review
- The ethnicity and gut microbiota hypothesis: analyzing multifactorial interactions and their health implications.Frontiers in microbiology · 2026Review
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Genetic adaptations shaping survival, pregnancy, and life at high altitude and sea level.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Convergent reduction of olfactory genes and olfactory bulb size in mammalian species at altitude.Current biology : CB · 2025Article
- Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes.Cancer discovery · 2025Article
- Population genomics advances in frontier ethnic minorities in China.Science China. Life sciences · 2025Review
- Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations.Communications biology · 2025Article
- Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobin.Nature communications · 2025Article
- Validation of new predictors of mortality and BODE index variants in patients with COPD at moderate altitude.ERJ open research · 2025Article
- A chromosome-scale reference genome assembly for Triplophysa lixianensis.Scientific data · 2024Article
- Article
- Higher oxygen content and transport characterize high-altitude ethnic Tibetan women with the highest lifetime reproductive success.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population.The Science of the total environment · 2024Article
- FunctionalScience advances · 2024Article
- Hypoxia Inducible Factor pathway proteins in high-altitude mammals.Trends in biochemical sciences · 2024Review
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
Abstract
The indigenous people of the Tibetan Plateau have been the subject of much recent interest because of their unique genetic adaptations to high altitude. Recent studies have demonstrated that the Tibetan EPAS1 haplotype is involved in high altitude-adaptation and originated in an archaic Denisovan-related population. We sequenced the whole-genomes of 27 Tibetans and conducted analyses to infer a detailed history of demography and natural selection of this population. We detected evidence of population structure between the ancestral Han and Tibetan subpopulations as early as 44 to 58 thousand years ago, but with high rates of gene flow until approximately 9 thousand years ago. The CMS test ranked EPAS1 and EGLN1 as the top two positive selection candidates, and in addition identified PTGIS, VDR, and KCTD12 as new candidate genes. The advantageous Tibetan EPAS1 haplotype shared many variants with the Denisovan genome, with an ancient gene tree divergence between the Tibetan and Denisovan haplotypes of about 1 million years ago. With the exception of EPAS1, we observed no evidence of positive selection on Denisovan-like haplotypes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.