Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1

2012/05/03 by Eimear E. Kenny, Nicholas J. Timpson, Martin Sikora +8 · 3 citations
Biochemistry, Genetics and Molecular Biology · #melanin and skin pigmentation #RNA regulation and disease #Connexins and lens biology #Missense mutation #Genetics #Mutation #Arginine #Biology #Cysteine #Zoology #Evolutionary biology #Amino acid #Gene #Biochemistry

paper · doi:10.1126/science.1217849

openalex publication_date 2012/05/03 · openalex created_date 2016/06/24 · openalex updated_date 2026/08/01

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.

Citations

• The Genetic Structure of Pacific Islanders
• ESTIMATINGF-STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE
• An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia
• Skin and hair pigmentation variation in Island Melanesia
• Melanesian and Asian Origins of Polynesians: mtDNA and Y Chromosome Gradients Across the Pacific
• Integrating common and rare genetic variation in diverse human populations
• Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania
• PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
• Genetic hitchhiking

Cited by

• Blonde hair evolved more than once
• Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes
• Blond [wikipedia]

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