| First Author | Kenny EE | Year | 2012 |
| Journal | Science | Volume | 336 |
| Issue | 6081 | Pages | 554 |
| PubMed ID | 22556244 | Mgi Jnum | J:184523 |
| Mgi Id | MGI:5424279 | Doi | 10.1126/science.1217849 |
| Citation | Kenny EE, et al. (2012) Melanesian blond hair is caused by an amino acid change in TYRP1. Science 336(6081):554 |
| abstractText | 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. |
