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GWAS Study

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

Kenny EE, Timpson NJ, Sikora M et al.

22556244 PubMed ID
GWAS Study Type
85 Participants
1,748 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KE
Kenny EE
TN
Timpson NJ
SM
Sikora M
YM
Yee MC
MA
Moreno-Estrada A
EC
Eng C
HS
Huntsman S
BE
Burchard EG
SM
Stoneking M
BC
Bustamante CD
MS
Myles S
Chapter II

Abstract

Summary of the research findings

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.

43 Solomon Islander ancestry blond haired individuals, 42 Solomon Islander ancestry dark haired individuals

Chapter III

Study Statistics

Key metrics and study information

85
Total Participants
GWAS
Study Type
No
Replicated
Oceanian
Ancestry
Solomon Islands
Recruitment Country
Chapter IV

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