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Science. 2012 May 4;336(6081):554. doi: 10.1126/science.1217849.

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

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  • 1Department of Genetics, Stanford University, Stanford, CA 94305, USA.

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.

PMID:
22556244
[PubMed - indexed for MEDLINE]
PMCID:
PMC3481182
Free PMC Article

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