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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
Abstract
The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated with the blue and brown eye colors: rs12913832 and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from the OCA2 promoter in a highly conserved sequence in intron 86 of HERC2. The brown eye color allele of rs12913832 is highly conserved throughout a number of species. As shown by a Luciferase assays in cell cultures, the element significantly reduces the activity of the OCA2 promoter and electrophoretic mobility shift assays demonstrate that the two alleles bind different subsets of nuclear extracts. One single haplotype, represented by six polymorphic SNPs covering half of the 3' end of the HERC2 gene, was found in 155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan, respectively. Hence, our data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.
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In the citing paper
“an allele (G) at rs12913832 near the OCA2 gene, with a proven association to blue eye color in individuals of European descent40”
From Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation (2018) · cites this paper as [40]
In the citing paper
“The derived allele (G) at rs12913832 is recessive and is associated with blue eye color.”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [33]
In the citing paper
“rs1667394 is also in LD with rs12913832 (D’ = 1, r2 = 0.65), which was not genotyped in our study but is thought to be the likely causative variant for blue versus brown eye color by genetic and functional analyses [33], [34].”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [33]
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Metadata
- Authors
- Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W., & Hansen, L.
- Affiliations
- University of Copenhagen (DK)
- Corresponding author
- Eiberg, Hans
- Venue
- Human Genetics
- Published
- 2008-01-03
- Volume
- 123
- Issue
- 2
- Pages
- 177-187
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2103578460
- Cited by
- 346
- References
- 30
- Citations by year
- 2026: 11 · 2025: 11 · 2024: 12 · 2023: 18 · 2022: 18 · 2021: 18 · 2020: 23 · 2019: 17 · 2018: 24 · 2017: 17 · 2016: 20 · 2015: 21 · 2014: 30 · 2013: 18 · 2012: 23
- FWCI
- 9.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- HERC2, OCA2, founder mutation, regulatory elements, single nucleotide polymorphisms, haplotypes, eye color inheritance, hair color, conserved sequences
- MeSH terms
- Adult, Alleles, Cells, Cultured, Chromosomes, Human, Pair 15, Denmark, Eye Color, Female, Gene Expression Regulation, Genotype, Hair Color, Haplotypes, Humans, Genetic Linkage, Lod Score, Luciferases, Male, Mutation, Pedigree, Surveys and Questionnaires, Regulatory Sequences, Nucleic Acid, Founder Effect, Polymorphism, Single Nucleotide, Guanine Nucleotide Exchange Factors, Membrane Transport Proteins, Ubiquitin-Protein Ligases
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