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

@article{Eiberg2007BlueEC,
  title={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},
  author={Hans Eiberg and Jesper Thorvald Troelsen and Mette Nielsen and Annemette Mikkelsen and Jonas Mengel-From and Klaus Wilbrandt Kjaer and Lars Kai Hansen},
  journal={Human Genetics},
  year={2007},
  volume={123},
  pages={177-187}
}
The human eye color is a quantitative trait displaying multifactorial inheritance. [] Key Method 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…

Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue‐brown eye color in the Japanese population

The present study is the first to examine in detail the genotype and haplotype frequencies for these five SNPs in an Asian (Japanese) population comprising solely brown‐eyed individuals and revealed significant differences between Japanese and other populations.

Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers

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  • R. Sturm
  • Biology
    Human molecular genetics
  • 2009
From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation.

Genetics of Eye Colour

The large effect sizes make this an excellent model for the investigation of the architecture of gene action, especially gene-by-gene interactions (epistasis), as well as multi-trait action (pleiotropy).

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A genetically inferred skin color score obtained from the 9 top-associated SNPs from 9 genes in 940 worldwide samples showed a clear gradual pattern in Western Eurasians similar to the distribution of physical skin color, suggesting the used 9 SNPs as suitable markers for DNA prediction of skin color in Europeans and neighboring populations, relevant in future forensic and anthropological investigations.

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A novel missense substitution in the OCA2 gene (Gly775Asp) is identified responsible for OCA 2 in individuals of Polynesian heritage from Tuvalu and it is hypothesized that this mutation may bePolynesian specific and that it originated from a common founder.

Gene–gene interactions contribute to eye colour variation in humans

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Genetics of human iris colour and patterns

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