Ontology highlight
ABSTRACT:
SUBMITTER: Lorenzo FR
PROVIDER: S-EPMC4473257 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Lorenzo Felipe R FR Huff Chad C Myllymäki Mikko M Olenchock Benjamin B Swierczek Sabina S Tashi Tsewang T Gordeuk Victor V Wuren Tana T Ri-Li Ge G McClain Donald A DA Khan Tahsin M TM Koul Parvaiz A PA Guchhait Prasenjit P Salama Mohamed E ME Xing Jinchuan J Semenza Gregg L GL Liberzon Ella E Wilson Andrew A Simonson Tatum S TS Jorde Lynn B LB Kaelin William G WG Koivunen Peppi P Prchal Josef T JT
Nature genetics 20140817 9
Tibetans do not exhibit increased hemoglobin concentration at high altitude. We describe a high-frequency missense mutation in the EGLN1 gene, which encodes prolyl hydroxylase 2 (PHD2), that contributes to this adaptive response. We show that a variant in EGLN1, c.[12C>G; 380G>C], contributes functionally to the Tibetan high-altitude phenotype. PHD2 triggers the degradation of hypoxia-inducible factors (HIFs), which mediate many physiological responses to hypoxia, including erythropoiesis. The P ...[more]