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Article

Wide distribution and altitude correlation of an archaic high-altitude-adaptive EPAS1 haplotype in the Himalayas.

Human genetics - 1 Apr 2016

Hackinger Sophie, Kraaijenbrink Thirsa, Xue Yali, Mezzavilla Massimo, Asan, van Driem George, Jobling Mark A, de Knijff Peter, Tyler-Smith Chris, Ayub Qasim

Abstract excerpt

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...

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Source

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Identifiers

PMID: 26883865
DOI: 10.1007/s00439-016-1641-2
PMCID: PMC4796332

Genes

EPAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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