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Sherpa gene study explains high-altitude adaptations

The natural ability of the Sherpa people to live at very high altitudes is the result of genetic adaptation and interbreeding between peoples according to research conducted by Choongwon Jeong from the University of Chicago that was presented in the Feb. 10, 2014, edition of the journal Nature Communications.

This image shows the proportion of high-altitude ancestry (red) to low-altitude ancestry (green) in Sherpa, three groups of Tibetans, and lowland East Asians.
Nature Communications, Anna Di Rienzo

The researchers compared the genome of 69 Nepalese Sherpa, 96 unrelated individuals from high-altitude regions of the Tibetan plateau, peoples from high-attitude areas of India, Siberia, and Central Asia, and the Human Genome Diversity Panel and found two genes that determine the ability of people to live at high altitudes.

The gene study found a predominance of high-altitude genes that exist in some peoples in Asia and a set of low-altitude genes that exist in other groups of Asians.

Historically the Sherpa people did not inhabit their present locations in Tibet and Nepal until 3,000 years ago. This fact is not congruent with the genetic information that shows the genes that give the Sherpa a dramatic ability to live at heights of 13,000 feet with low oxygen content arose between 20,000 and 40,000 years ago.

The researchers conclude that the original Sherpa people interbred with a group of people that had already adapted to life at extreme elevations about 30,000 years ago.