Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1

  title={Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1},
  author={E. Kenny and N. Timpson and M. Sikora and Muh-Ching Yee and Andr{\'e}s Moreno-Estrada and C. Eng and Shane A Huntsman and E. Burchard and M. Stoneking and C. Bustamante and S. Myles},
  pages={554 - 554}
  • E. Kenny, N. Timpson, +8 authors S. Myles
  • Published 2012
  • Biology, Medicine
  • Science
  • 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… CONTINUE READING
    97 Citations

    Topics from this paper

    A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters melanosome structure
    • 5
    A dominant mutation in tyrp1A leads to melanophore death in zebrafish
    • 21
    Skin Pigmentation Genetics for the Clinic
    • 21
    An Unexpectedly Complex Architecture for Skin Pigmentation in Africans
    • 55
    A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs.
    • 8
    • PDF


    Two newly identified genetic determinants of pigmentation in Europeans
    • 306
    Genetic determinants of hair, eye and skin pigmentation in Europeans
    • 616
    • PDF
    A genomewide association study of skin pigmentation in a South Asian population.
    • 262
    A rare variant in MYH6 is associated with high risk of sick sinus syndrome
    • 261
    Light is a dominant mouse mutation resulting in premature cell death
    • 89
    Tyrosinase and related proteins in mammalian pigmentation
    • 365