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

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

Research output: Contribution to journalArticle (Academic Journal)peer-review

79 Citations (Scopus)

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.

Bibliographical note

M1 - 6081

Kenny EE Timpson NJ Sikora M Yee MC Moreno-Estrada A Eng C Huntsman S Burchard EG Stoneking M Bustamante CD Myles S RD1634 (United Kingdom Medical Research Council)

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