Eye colour: portals into pigmentation genes and an...[Trends Genet. 2004]

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1: Trends Genet. 2004 Aug;20(8):327-32. Links

Eye colour: portals into pigmentation genes and ancestry.

Sturm RA, Frudakis TN.

Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia. R.Sturm@imb.uq.edu.au

Several recent papers have tried to address the genetic determination of eye colour via microsatellite linkage, testing of pigmentation candidate gene polymorphisms and the genome wide analysis of SNP markers that are informative for ancestry. These studies show that the OCA2 gene on chromosome 15 is the major determinant of brown and/or blue eye colour but also indicate that other loci will be involved in the broad range of hues seen in this trait in Europeans.

PMID: 15262401 [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW. Am J Hum Genet. 2008 Feb; 82(2):424-31. Epub 2008 Jan 24.

[Am J Hum Genet. 2008]
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, et al. Am J Hum Genet. 2008 Feb; 82(2):411-23. Epub 2008 Jan 25.

[Am J Hum Genet. 2008]
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA. Am J Hum Genet. 2007 Feb; 80(2):241-52. Epub 2006 Dec 20.

[Am J Hum Genet. 2007]

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