Genetics of Skin Color

The genetic basis of skin color across global populations is an age-old mystery. The dark skin of African populations, the ancestral state in humans, is protective in regions with high solar UV exposure. In contrast, the light skin of Europeans has a selective advantage in northerly latitudes due to higher sun-dependent generation of vitamin D.

European skin is associated with up to a 30-fold increased risk of melanoma — the deadliest form of skin cancer. Surprisingly, East Asians, although light-skinned, have very low risk of melanoma comparable to Africans. They also do not carry the pervasive European light skin color genes (SLC24A5 & SLC45A2), meaning they must carry a functionally similar genetic variation.

We aim to identify the East Asian light skin color gene by studying populations with a combination of ancestral (African) and primary East Asian light skin color genes — most likely found in Indigenous populations originally from East Asia.