Scientists Identify Gene Mutation Linked to East Asian Physical Features

Scientists have identified a mutation in an important human gene as the source of several distinctive features that make East Asians different from the other races. Researchers are now certain that East Asians features like the 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 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.

Mice already have EDAR, an ancient mammalian gene that plays a leading role in the embryo in shaping hair, skin and teeth. The Broad team engineered a strain of mice whose EDAR gene had the same DNA change as the East Asian version of EDAR.

When the mice grew up, the researchers found they did indeed have thicker hair shafts, confirming that the changed gene was the cause of East Asians’ thicker hair. But the gene had several other effects, they report in Thursday’s issue of the journal Cell.

One was that the mice, to the researchers’ surprise, had extra sweat glands. A Chinese member of the team, Sijia Wang, then tested people in China and discovered that they, too, had more numerous sweat glands, evidently another effect of the gene.

Another surprise was that the engineered mice had less breast tissue, meaning that EDAR could be the reason that East Asian women have generally smaller breasts.
East Asians have distinctively shaped teeth for which their version of EDAR is probably responsible. But the mice were less helpful on this point; their teeth are so different from humans’ that the researchers could not see any specific change.

The finding that the gene has so many effects raises the question of which one was the dominant trigger for natural selection.