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,” says Cheng, professor of pathology.
In this current part of the project, Victor Canfield, assistant professor of pharmacology, together with Cheng, studied DNA sequence differences across the globe. They studied segments of genetic code that have a mutation and are located closely on the same chromosome and are often inherited together. 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.