Melanesian blond hair is caused by an amino acid change in TYRP1 |
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| Authors: | Kenny Eimear E Timpson Nicholas J Sikora Martin Yee Muh-Ching Moreno-Estrada Andrés Eng Celeste Huntsman Scott Burchard Esteban González Stoneking Mark Bustamante Carlos D Myles Sean |
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| Institution: | Department of Genetics, Stanford University, Stanford, CA 94305, USA. |
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| Abstract: | 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. |
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