Cited by 346melanin and skin pigmentationGenetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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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

Eiberg, Hans, Troelsen, Jesper, Nielsen, Mette, Mikkelsen, Annemette, Mengel-From, Jonas, Kjaer, Klaus W., Hansen, Lars·2008·Human Genetics

DOI 10.1007/s00439-007-0460-x

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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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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
ORCID: Eiberg, Hans
Troelsen, Jesper
Hansen, Lars
Venue: Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2008-01-03
Volume: 123
Issue: 2
Pages: 177-187
ISSN: 0018-7348 (ISSN-L)
0340-6717
1432-1203
DOI: 10.1007/s00439-007-0460-x
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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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

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