ArticleScience (New York, N.Y.)2012
Melanesian blond hair is caused by an amino acid change in TYRP1.
Article in Science (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.Nature communications · 2020Pooled it
- Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.Human molecular genetics · 2018Pooled it
- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
- The Genetics and Evolution of Human Pigmentation.Biology · 2025Review
- The Impact of Ancestry on Genome-Wide Association Studies.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2025Article
- Prevalence and Predictors of Premature Graying of Hair Before the Age of 30: A Cross-Sectional Study in Saudi Arabia.Journal of cosmetic dermatology · 2025Article
- TPC2: From Blond Hair to Melanoma?Cancers · 2024Review
- Native Hawaiian and Pacific Islander populations in genomic research.NPJ genomic medicine · 2024Review
- Tyrp1 is the mendelian determinant of the Axolotl (Ambystoma mexicanum) copper mutant.Scientific reports · 2024Article
- Domain-adaptive neural networks improve supervised machine learning based on simulated population genetic data.PLoS genetics · 2023Article
- A Comprehensive Review of Mammalian Pigmentation: Paving the Way for Innovative Hair Colour-Changing Cosmetics.Biology · 2023Review
- Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes.American journal of human genetics · 2022Article
- Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.Molecular biology and evolution · 2022Article
- A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.Molecular biology and evolution · 2022Article
- Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.PLoS genetics · 2021Article
- Optimizing the genetic prediction of the eye and hair color for North Eurasian populations.BMC genomics · 2020Article
- Dual-Function Analysis of Astaxanthin on Golden Pompano (Frontiers in physiology · 2020Article
- Is population structure in the genetic biobank era irrelevant, a challenge, or an opportunity?Human genetics · 2020Review
- An approximate full-likelihood method for inferring selection and allele frequency trajectories from DNA sequence data.PLoS genetics · 2019Article
- A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.Human molecular genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.