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Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1
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Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1
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Journal Article
Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1
2012
Overview
Naturally blond hair in Solomon Islanders maps to a missense mutation in a gene associated with pigmentation. 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.
Publisher
American Association for the Advancement of Science,The American Association for the Advancement of Science
Subject
/ Analytical, structural and metabolic biochemistry
/ Biological and medical sciences
/ BREVIA
/ Classical genetics, quantitative genetics, hybrids
/ Europe
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genome-Wide Association Study
/ Genotype
/ Hair
/ Human
/ Humans
/ Islands
/ Membrane Glycoproteins - genetics
/ Membrane Glycoproteins - metabolism
/ Mutation
/ Oceania
/ Oxidoreductases - metabolism
/ Pigments
/ Polymorphism, Single Nucleotide
/ Residues
