'ome on the Range: Altitude Adaptation, Positive Selection, and Himalayan Genomics

MacInnis, Martin J., and Rupert, Jim L. 'ome on the range: altitude adaptation, positive selection, and Tibetan genomics. High Alt. Med. & Biol. 12:133-139, 2011. In 2010, a number of papers were published describing data from genome-wide studies designed to identify genes and genetic variants that contribute ( or contributed) to human adaptation to altitude in the Himalaya. The results were exciting, intriguing, and controversial. Several genes, most notably EGLN1 and EPAS1, were identified as strong candidates for a role in evolutionary adaptation to high altitude, and the time course over which this adaptation occurred was calculated by one team to be remarkably brief. Overall, the data suggest that, at least in the ancestors of the modern Tibetans, there was a powerful selective pressure favoring variants in genes central to the molecular response to hypoxia. The most obvious manifestation of this selection seems to be the Tibetan's well known blunted erythropoietic response to hypoxemia. This article briefly reviews recent developments in 'omic' analysis of Tibetan highland natives, with a focus both on the answers found and the questions raised.