Article
A genetic mechanism for Tibetan high-altitude adaptation.
Nature genetics - 1 Sept 2014
Lorenzo Felipe R, Huff Chad, Myllymäki Mikko, Olenchock Benjamin, Swierczek Sabina, Tashi Tsewang, Gordeuk Victor, Wuren Tana, Ri-Li Ge, McClain Donald A, Khan Tahsin M, Koul Parvaiz A, Guchhait Prasenjit, Salama Mohamed E, Xing Jinchuan, Semenza Gregg L, Liberzon Ella, Wilson Andrew, Simonson Tatum S, Jorde Lynn B, Kaelin William G, Koivunen Peppi, Prchal Josef T
Abstract excerpt
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 fun...
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