title: Melanesian blond hair is caused by an amino acid change in TYRP1.
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.
authors.affiliation: Department of Genetics, Stanford University, Stanford, CA 94305, USA.
authors.forename: Eimear E
authors.initials: EE
authors.lastname: Kenny
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Timpson
authors.forename: Martin
authors.initials: M
authors.lastname: Sikora
authors.forename: Muh-Ching
authors.initials: MC
authors.lastname: Yee
authors.forename: Andrés
authors.initials: A
authors.lastname: Moreno-Estrada
authors.forename: Celeste
authors.initials: C
authors.lastname: Eng
authors.forename: Scott
authors.initials: S
authors.lastname: Huntsman
authors.forename: Esteban González
authors.initials: EG
authors.lastname: Burchard
authors.forename: Mark
authors.initials: M
authors.lastname: Stoneking
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Bustamante
authors.forename: Sean
authors.initials: S
authors.lastname: Myles
mesh_terms: D019943:Amino Acid Substitution; D005787:Gene Frequency; D005808:Genes, Recessive; D055106:Genome-Wide Association Study; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008542:Melanesia; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: D008562:Membrane Glycoproteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human