| Literature DB >> 22556244 |
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.Entities:
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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