East Asian Physical Traits Linked to 35,000-Year-Old Gene Mutation

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Published: February 14, 2013

Gaining a deep insight into human evolution, researchers have identified a mutation in a critical human gene as the source of several distinctive traits that make East Asians different from other races.

The traits — thicker hair shafts, more sweat glands, characteristically identified teeth and smaller breasts — are the result of a gene mutation that occurred about 35,000 years ago, the researchers have concluded.

The discovery explains a crucial juncture in the evolution of East Asians. But the method can also be applied to some 400 other sites on the human genome. The DNA changes at these sites, researchers believe, mark the turning points in recent human evolution as the populations on each continent diverged from one another.

The first of those sites to be studied contains the gene known as EDAR. Africans and Europeans carry the standard version of the gene, but in most East Asians, one of the DNA units has mutated.

Seeking to understand if the gene was the cause of thicker hair in East Asians with the variant gene, a team of researchers led by Yana G. Kamberov and Pardis C. Sabeti at the Broad Institute in Cambridge, Mass., decided to test the gene in mice, where its effects could be more easily explored.

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