Assignment of Genes Coding for Brown Eye Colour (BEY2) and Brown Hair Colour (HCL3) on Chromosome 15q

@article{Eiberg1996AssignmentOG,
  title={Assignment of Genes Coding for Brown Eye Colour (BEY2) and Brown Hair Colour (HCL3) on Chromosome 15q},
  author={Hans Eiberg and Jan Mohr},
  journal={European Journal of Human Genetics},
  year={1996},
  volume={4},
  pages={237-241}
}
Brown eye colour (BEY), or total brown iris pigmentation is one of the most common phenotypes of iris colour. Data of eye colour as well as hair colour were obtained for linkage analysis through an enquiry in our family material of 832 families from Copenhagen area. By exclusion mapping with 80 markers in 120 segregating families and 290 markers in 5 segregating families, we obtained some indication of a locus BEY2 for brown eye colour on chromosome 15. For possible confirmation, we selected a… 
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72 Citations

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

It is concluded that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci, including additive x additive epistasis.

A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q

Most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci, including additive epistasis and non-additive main effects and interactions.

Genetic determinants of hair and eye colours in the Scottish and Danish populations

Novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population are found.

Genetic determinants of hair, eye and skin pigmentation in Europeans

The most closely associated SNPs from six regions—four not previously implicated in the normal variation of human pigmentation—were tested and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch, and all met the criteria for genome-wide significance.

Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.

A quantitative transmission disequilibrium test between light-dark hair color and 58 single nucleotide polymorphisms in OCA2 showed that the SNPs rs4778138 and rs1375164 were associated with significantly darker hair color, which explains 1.54 and 0.85% of variation in the A650t index, respectively.

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).

Genetics of human iris colour and patterns

A model is presented whereby this SNP, serving as a target site for the SWI/SNF family member HLTF, acts as part of a highly evolutionary conserved regulatory element required for OCA2 gene activation through chromatin remodelling.

Sequences associated with human iris pigmentation.

The results suggest that cryptic population structure might serve as a leverage tool for complex trait gene mapping if genomes are screened with the appropriate ancestry informative markers.

Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics

The study indicated the advantage of neural networks in prediction modeling in forensics and provided additional evidence for population specific differences in the predictive importance of the IrisPlex SNPs and gender.

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

The data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans, and 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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