The Huff lab is happy to announce the advanced online publication of "A genetic mechanism for Tibetan high-altitude adaptation" in the journal Nature Genetics.

Felipe R Lorenzo, Chad Huff, Mikko Myllymäki, Benjamin Olenchock, Sabina Swierczek1, Tsewang Tashi, Victor Gordeuk, Tana Wuren, Ge Ri-Li, Donald A McClain, Tahsin M Khan, Parvaiz A Koul, Prasenjit Guchhait, Mohamed E Salama, Jinchuan Xing, Gregg L Semenza, Ella Liberzon, Andrew Wilson, Tatum S Simonson, Lynn B Jorde, William G Kaelin Jr, Peppi Koivunen, Josef T Prchal (2014): A genetic mechanism for Tibetan high-altitude adaptation. In: Nature Genetics, 2014.

This paper provides strong functional evidence that two nonsynonymous variants are responsible for high-altitude adaptation at the EGLN1 locus in Tibet. To our knowledge, this is the only example of a polymorphic coadapted gene complex in a human population. (If anyone knows of other examples, please let us know!)