[HTML][HTML] Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing

D Song, L Li, PR Arsenault, Q Tan, AW Bigham… - Journal of Biological …, 2014 - ASBMB
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 population. These amino acids
reside in a region of PHD2 that harbors a zinc finger, which we have previously discovered …