A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation

2007/01/19 by David L. Duffy, Grant W. Montgomery, Wei Chen +7 · 4 citations
Biochemistry, Genetics and Molecular Biology · Nursing · #Biochemical Analysis and Sensing Techniques #Biology #Evolutionary biology #Gene #Genetic variation #Genetics #Genotype #Haplotype #Intron #Polymorphism (computer science) #Retinal Development and Disorders #Single-nucleotide polymorphism #Variation (astronomy) #melanin and skin pigmentation

paper · pdf · doi:10.1086/510885

openalex publication_date 2007/01/19 · crossref created 2007/01/19 · crossref issued 2007/02/01 · crossref published 2007/02/01 · crossref published-print 2007/02/01 · crossref deposited 2024/02/10 · openalex created_date 2025/10/10 · crossref indexed 2026/06/18 · openalex updated_date 2026/06/23

Citations

• Skin pigmentation, biogeographical ancestry and admixture mapping
• A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q
• The color of the human eye: A review of morphologic correlates and of some conditions that affect iridial pigmentation
• Characterization of Melanins in Human Irides and Cultured Uveal Melanocytes From Eyes of Different Colors
• Melanin in human irides of different color and age of donors
• Eye colour: portals into pigmentation genes and ancestry
• The Genetics of Sun Sensitivity in Humans
• Eye Color Changes Past Early Childhood
• Unbiased Recursive Partitioning: A Conditional Inference Framework
• Positive Natural Selection in the Human Lineage

Cited by

• Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype
• DNA-based prediction of human externally visible characteristics in forensics: Motivations, scientific challenges, and ethical considerations
• Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage
• Sexual dimorphism in human physiology [wikipedia]