Melanesian blond hair is caused by an amino acid change in TYRP1.
Science
; 336(6081): 554, 2012 May 04.
Article
em En
| MEDLINE
| ID: mdl-22556244
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Oxirredutases
/
Cor de Cabelo
/
Glicoproteínas de Membrana
/
Mutação de Sentido Incorreto
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article