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Melanesian blond hair is caused by an amino acid change in TYRP1.

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.

SUBMITTER: Kenny EE

PROVIDER: S-EPMC3481182 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

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Melanesian blond hair is caused by an amino acid change in TYRP1.

Kenny Eimear E EE Timpson Nicholas J NJ Sikora Martin M Yee Muh-Ching MC Moreno-Estrada Andrés A Eng Celeste C Huntsman Scott S Burchard Esteban González EG Stoneking Mark M Bustamante Carlos D CD Myles Sean S

Science (New York, N.Y.) 20120501 6081

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, re ...[more]

PMID: 22556244

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