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Article

Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing.

The Journal of biological chemistry - 23 May 2014

Song Daisheng, Li Lin-sheng, Arsenault Patrick R, Tan Qiulin, Bigham Abigail W, Heaton-Johnson Katherine J, Master Stephen R, Lee Frank S

Abstract excerpt

The Tibetan population has adapted to the chronic hypoxia of high altitude. Tibetans bear a genetic signature in the prolyl hydroxylase domain protein 2 (PHD2/EGLN1) gene, which encodes for the central oxygen sensor of the hypoxia-inducible factor (HIF) pathway. Recent studies have focused attention on two nonsynonymous coding region substitutions, D4E and C127S, both of which are markedly enriched in the Tibetan...

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Source

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Identifiers

PMID: 24711448
DOI: 10.1074/jbc.M113.541227
PMCID: PMC4031521

Genes

EGLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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