Scientists find a DNA change that accounts for white skin — but they weren’t looking in humans:
The discovery, described in today’s issue of the journal Science, was an unexpected outgrowth of studies Cheng and his colleagues were conducting on inch-long zebra fish, which are popular research tools for geneticists and developmental biologists. Having identified a gene that, when mutated, interferes with its ability to make its characteristic black stripes, the team scanned human DNA databases to see if a similar gene resides in people.To their surprise, they found virtually identical pigment-building genes in humans, chickens, dogs, cows and many others species, an indication of its biological value.
They got a bigger surprise when they looked in a new database comparing the genomes of four of the world’s major racial groups. That showed that whites with northern and western European ancestry have a mutated version of the gene.
Skin color is a reflection of the amount and distribution of the pigment melanin, which in humans protects against damaging ultraviolet rays but in other species is also used for camouflage or other purposes. The mutation that deprives zebra fish of their stripes blocks the creation of a protein whose job is to move charged atoms across cell membranes, an obscure process that is crucial to the accumulation of melanin inside cells.
Humans of European descent, Cheng’s team found, bear a slightly different mutation that hobbles the same protein with similar effect. The defect does not affect melanin deposition in other parts of the body, including the hair and eyes, whose tints are under the control of other genes.
A few genes have previously been associated with human pigment disorders — most notably those that, when mutated, lead to albinism, an extreme form of pigment loss. But the newly found glitch is the first found to play a role in the formation of “normal” white skin. The Penn State team calculates that the gene, known as slc24a5, is responsible for about one-third of the pigment loss that made black skin white. A few other as-yet-unidentified mutated genes apparently account for the rest.
Although precise dating is impossible, several scientists speculated on the basis of its spread and variation that the mutation arose between 20,000 and 50,000 years ago. That would be consistent with research showing that a wave of ancestral humans migrated northward and eastward out of Africa about 50,000 years ago.
Unlike most mutations, this one quickly overwhelmed its ancestral version, at least in Europe, suggesting it had a real benefit. Many scientists suspect that benefit has to do with vitamin D, made in the body with the help of sunlight and critical to proper bone development.
Europeans aren’t the only light-skinned humans though:
The work also reveals for the first time that Asians owe their relatively light skin to different mutations. That means that light skin arose independently at least twice in human evolution, in each case affecting populations with the facial and other traits that today are commonly regarded as the hallmarks of Caucasian and Asian races.