|Title||Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1|
|Publication Type||Journal Article|
|Year of Publication||2012|
|Authors||Kenny, EE, Timpson, NJ, Sikora, M, Yee, M-C, Moreno-Estrada, A, Eng, C, Huntsman, S, Burchard, EG, Stoneking, M, Bustamante, CD, Myles, S|
|Pagination||554 - 554|
|Keywords||hair, melanesia, pigmentation|
Naturally blond hair is rare in humans and found almost exclusively in Europe and Oceania. Here, we identify an arginine-to-cysteine change at a highly conserved residue in tyrosinase-related protein 1 (TYRP1) as a major determinant of blond hair in Solomon Islanders. This missense mutation is predicted to affect catalytic activity of TYRP1 and causes blond hair through a recessive mode of inheritance. The mutation is at a frequency of 26% in the Solomon Islands, is absent outside of Oceania, represents a strong common genetic effect on a complex human phenotype, and highlights the importance of examining genetic associations worldwide.
Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1
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