A genetic mechanism for Tibetan high-altitude adaptation

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...

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Publié dans:Nat Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4473257/
https://ncbi.nlm.nih.gov/pubmed/25129147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3067
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