Monday, June 4, 2012

Tibetan Altitude Tolerance Mutations:

The people of Tibet, who have survived for thousands of years in extremely high altitude conditions, show distinct phenotypic adaptations to life in the mountains, of which the genetic basis is unknown.  Many groups, including mountain climbers, endurance athletes, and pharmaceutical companies, would love be able to use the evolutionary products of the Tibetan respiratory system to give other people an advantage at altitude.  This study scanned the genome of a sample of Tibetans and compared it to the genome of lower-elevation populations in the area, and analyzed where the two differ.  The two genes hypothesized to be most likely to contribute are EGLN1 and PPARA, which are known to be associated with the decreased hemoglobin phenotype expressed in Tibetans.  This study sheds light on the origin of Tibetan altitude tolerance, but more research is necessary to determine the exact pathway by which the phenotype is actually carried out.

Link to the paper:
http://stke.sciencemag.org/cgi/content/full/sci;329/5987/72

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