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

Science. 2012 May 4;336(6081):554. doi: 10.1126/science.1217849.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Gene Frequency
  • Genes, Recessive
  • Genome-Wide Association Study
  • Genotype
  • Hair Color / genetics*
  • Humans
  • Melanesia
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Mutation, Missense*
  • Oxidoreductases / genetics*
  • Oxidoreductases / metabolism
  • Polymorphism, Single Nucleotide


  • Membrane Glycoproteins
  • Oxidoreductases
  • TYRP1 protein, human