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Article

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

Science (New York, N.Y.) - 4 May 2012

Kenny Eimear E, Timpson Nicholas J, Sikora Martin, Yee Muh-Ching, Moreno-Estrada Andrés, Eng Celeste, Huntsman Scott, Burchard Esteban González, Stoneking Mark, Bustamante Carlos D, Myles Sean

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22556244
DOI: 10.1126/science.1217849
PMCID: PMC3481182

Genes

TYRP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Melanesian blond hair is caused by an amino acid change in TYRP1.PMID 22556244Read ↗

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Semantic proximity Read ↗

The rs387907171 SNP in TYRP1 is not associated with blond hair color on the Island of Bougainville.Semantic proximity Read ↗

White-based brown (Tyrp1B-w) is a dominant mutation causing reduced hair pigmentation owing to a chromosomal inversion.Semantic proximity Read ↗

Distribution of an allele associated with blond hair color across Northern Island Melanesia.Semantic proximity Read ↗

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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Semantic proximity Read ↗

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Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.Semantic proximity Read ↗

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Semantic proximity Read ↗

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