Genes for High Altitudes

See allHide authors and affiliations

Science  02 Jul 2010:
Vol. 329, Issue 5987, pp. 40-41
DOI: 10.1126/science.1192481

You are currently viewing the summary.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution


During the past 100,000 to 200,000 years, anatomically modern humans successfully colonized a diverse range of environments across the planet. Some of the most extreme of these environments are found on the high-altitude plateaus of Central Asia and the Andes. The Tibetan Plateau appears to have been inhabited for ∼25,000 years, and permanent settlements have been established at elevations of 3500 to 4500 m (1, 2). Residents of these lofty altitudes descend from a long line of highland ancestors who lived long enough to reproduce in spite of the physiological challenges associated with chronic oxygen deprivation. Thus, studies of indigenous high-altitude residents provide the opportunity to identify genes that may have played a role in hypoxia adaptation. On pages 72 and 75 of this issue, Simonson et al. (3) and Yi et al. (4), respectively, combine genomic and candidate-gene analyses to identify the genetic basis of high-altitude adaptation in Tibetans. Together with another recent analysis (5), the studies reveal that genes in the hypoxia-inducible factor (HIF) oxygen signaling pathway have been subject to strong and recent positive selection in Tibetan highlanders.