ArticleAmerican journal of human genetics2015
A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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41 citing papers in PubMed, 79 citations in OpenAlex.
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- DNA methylation in adaptation to high-altitude environments and pathogenesis of related diseases.Human genomics · 2025Review
- Differences in Pathogenetic Mechanism Between Tibetan and Han High-Altitude Polycythemia Based on a Whole Genome-Wide Association Study.Phenomics (Cham, Switzerland) · 2025Article
- A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans.Cell genomics · 2025Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Structural variants involved in high-altitude adaptation detected using single-molecule long-read sequencing.Nature communications · 2023Article
- Evolutionary origin of genomic structural variations in domestic yaks.Nature communications · 2023Article
- Mapping structural variations iniScience · 2023Article
- Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.Genome biology · 2023Article
- Pangenome obtained by long-read sequencing of 11 genomes reveal hidden functional structural variants in pigs.iScience · 2023Article
- Genetic adaptation of skin pigmentation in highland Tibetans.Proceedings of the National Academy of Sciences of the United States of America · 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 genomic basis of high-elevation adaptation in wild house mice (Mus musculus domesticus) from South America.Genetics · 2022Article
- Characterization of structural variation in Tibetans reveals new evidence of high-altitude adaptation and introgression.Genome biology · 2021Article
- Effects of altitude on human oral microbes.AMB Express · 2021Article
- Population genomics of East Asian ethnic groups.Hereditas · 2020Review
- Identification and population genetic analyses of copy number variations in six domestic goat breeds and Bezoar ibexes using next-generation sequencing.BMC genomics · 2020Article
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16 authors at 7 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Tibetan high-altitude adaptation (HAA) has been studied extensively, and many candidate genes have been reported. Subsequent efforts targeting HAA functional variants, however, have not been that successful (e.g., no functional variant has been suggested for the top candidate HAA gene, EPAS1). With WinXPCNVer, a method developed in this study, we detected in microarray data a Tibetan-enriched deletion (TED) carried by 90% of Tibetans; 50% were homozygous for the deletion, whereas only 3% carried the TED and 0% carried the homozygous deletion in 2,792 worldwide samples (p < 10(-15)). We employed long PCR and Sanger sequencing technologies to determine the exact copy number and breakpoints of the TED in 70 additional Tibetan and 182 diverse samples. The TED had identical boundaries (chr2: 46,694,276-46,697,683; hg19) and was 80 kb downstream of EPAS1. Notably, the TED was in strong linkage disequilibrium (LD; r(2) = 0.8) with EPAS1 variants associated with reduced blood concentrations of hemoglobin. It was also in complete LD with the 5-SNP motif, which was suspected to be introgressed from Denisovans, but the deletion itself was absent from the Denisovan sequence. Correspondingly, we detected that footprints of positive selection for the TED occurred 12,803 (95% confidence interval = 12,075-14,725) years ago. We further whole-genome deep sequenced (>60×) seven Tibetans and verified the TED but failed to identify any other copy-number variations with comparable patterns, giving this TED top priority for further study. We speculate that the specific patterns of the TED resulted from its own functionality in HAA of Tibetans or LD with a functional variant of EPAS1.
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