Genetics of human iris colour and patterns

Sturm, Richard A. and Larsson, Mats (2009) Genetics of human iris colour and patterns. Pigment Cell and Melanoma Research, 22 5: 544-562. doi:10.1111/j.1755-148X.2009.00606.x


Author Sturm, Richard A.
Larsson, Mats
Title Genetics of human iris colour and patterns
Journal name Pigment Cell and Melanoma Research   Check publisher's open access policy
ISSN 1755-1471
1755-148X
Publication date 2009-10
Year available 2009
Sub-type Article (original research)
DOI 10.1111/j.1755-148X.2009.00606.x
Volume 22
Issue 5
Start page 544
End page 562
Total pages 19
Place of publication Malden, MA, United States
Publisher Wiley-Blackwell Munksgaard
Collection year 2010
Language eng
Subject C1
970106 Expanding Knowledge in the Biological Sciences
060401 Anthropological Genetics
060403 Developmental Genetics (incl. Sex Determination)
060411 Population, Ecological and Evolutionary Genetics
Abstract The presence of melanin pigment within the iris is responsible for the visual impression of human eye colouration with complex patterns also evident in this tissue, including Fuchs' crypts, nevi, Wolfflin nodules and contraction furrows. The genetic basis underlying the determination and inheritance of these traits has been the subject of debate and research from the very beginning of quantitative trait studies in humans. Although segregation of blue-brown eye colour has been described using a simple Mendelian dominant-recessive gene model this is too simplistic, and a new molecular genetic perspective is needed to fully understand the biological complexities of this process as a polygenic trait. Nevertheless, it has been estimated that 74% of the variance in human eye colour can be explained by one interval on chromosome 15 that contains the OCA2 gene. Fine mapping of this region has identified a single base change rs12913832 T/C within intron 86 of the upstream HERC2 locus that explains almost all of this association with blue-brown eye colour. 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. Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6.
Keyword Eye Colour
melanocyte
OCA2/HERC2
quantitative trait
transcription factor
gene regulation
MITF
PAX6
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
Institute for Molecular Bioscience - Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 59 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 24 Feb 2010, 13:51:12 EST by Susan Allen on behalf of Institute for Molecular Bioscience