Literature DB >> 22556244

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

Eimear E Kenny1, Nicholas J Timpson, Martin Sikora, Muh-Ching Yee, Andrés Moreno-Estrada, Celeste Eng, Scott Huntsman, Esteban González Burchard, Mark Stoneking, Carlos D Bustamante, Sean Myles.   

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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Year:  2012        PMID: 22556244      PMCID: PMC3481182          DOI: 10.1126/science.1217849

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


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