Studies of a Skin Color Gene Across Global Populations Reveal Shared Origins

All instances of a gene mutation that contributes to light skin color in Europeans came from the same chromosome of one person who most likely lived at least 10,000 years ago, according to Penn State College of Medicine researchers.

While the genetics of skin color is largely unclear, past research using zebrafish by the College of Medicine’s Keith Cheng identified a key gene that contributes to lighter skin color in Europeans and differs from West Africans. In 2005, Cheng reported that one amino acid difference in the gene SLC24A5 is a key contributor to the skin color difference between Europeans and West Africans.

“The mutation in SLC24A5 changes just one building block in the protein, and contributes about a third of the visually striking differences in skin tone between peoples of African and European ancestry,” said Cheng, distinguished professor of pathology. Lighter skin color may have provided an advantage due to for the better creation of vitamin D in the lesser sunlight characteristic of northern latitudes.

{snip} This specific mutation in SLC24A5, called A111T, is found in virtually everyone of European ancestry.

A111T is also found in populations in the Middle East and Indian subcontinent, but not in high numbers in Africans. Researchers found that all individuals from the Middle East, North Africa, East Africa and South India who carry the A111T mutation share a common “fingerprint” — traces of the ancestral genetic code — in the corresponding chromosomal region, indicating that all existing instances of this mutation originate from the same person.

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The pattern of proportions of people with this lighter skin color mutation indicates that the A111T mutation occurred somewhere between the Middle East and the Indian subcontinent.

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This mutated segment of DNA was itself created from a combination of two other mutated segments commonly found in Eastern Asians — traditionally defined as Chinese, Japanese and Korean.

“The coincidence of this interesting form of evidence of shared ancestry of East Asians with Europeans, within this tiny chromosomal region, is exciting,” Cheng said. “The combining of segments occurred after the ancestors of East Asians and Europeans split geographically more than 50,000 years ago; the A111T mutation occurred afterward.”

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The differences in skin color affect skin cancer rates. Europeans have 10 to 20 times more instances of melanoma than Africans. However, despite also having lighter skin, East Asians have the same melanoma rates as Africans. The reason for this difference can only be explained after the gene mutations for both groups are found. This understanding could lead to better treatments for melanoma.