TY - JOUR
T1 - Melanesian blond hair is caused by an amino acid change in TYRP1
AU - Kenny, Eimear E.
AU - Timpson, Nicholas J.
AU - Sikora, Martin
AU - Yee, Muh-Ching
AU - Moreno-Estrada, Andres
AU - Eng, Celeste
AU - Huntsman, Scott
AU - Burchard, Esteban Gonzalez
AU - Stoneking, Mark
AU - Bustamante, Carlos D.
AU - Myles, Sean
N1 - M1 - 6081
Kenny EE Timpson NJ Sikora M Yee MC Moreno-Estrada A Eng C Huntsman S Burchard EG Stoneking M Bustamante CD Myles S RD1634 (United Kingdom Medical Research Council)
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
U2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=medl&AN=22556244 http://linkserver.bristol.ac.uk:9003/prod?sid=OVID:medline&id=pmid:22556244&id=doi:&issn=0036-8075&isbn=&volume=336&issue=6081&spage=554&pages=554&date=2012&title=Science&atitle=Melanesian+blond+hair+is+caused+by+an+amino+acid+change+in+TYRP1.&aulast=Kenny&pid=%3Cauthor%3EKenny+EE%3C%2Fauthor%3E%3CAN%3E22556244%3C%2FAN%3E%3CDT%3EJournal+Article%3C%2FDT%3E
DO - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=medl&AN=22556244 http://linkserver.bristol.ac.uk:9003/prod?sid=OVID:medline&id=pmid:22556244&id=doi:&issn=0036-8075&isbn=&volume=336&issue=6081&spage=554&pages=554&date=2012&title=Science&atitle=Melanesian+blond+hair+is+caused+by+an+amino+acid+change+in+TYRP1.&aulast=Kenny&pid=%3Cauthor%3EKenny+EE%3C%2Fauthor%3E%3CAN%3E22556244%3C%2FAN%3E%3CDT%3EJournal+Article%3C%2FDT%3E
M3 - Article (Academic Journal)
SN - 0036-8075
VL - 336
SP - 554. (11 authors) (40%)
JO - Science
JF - Science
ER -