Genomes and Genes
Summary: Color of the iris.
- Wakamatsu K, Hirobe T, Ito S. High levels of melanin-related metabolites in plasma from pink-eyed dilution mice. Pigment Cell Res. 2007;20:222-4 pubmed
- Mossner R, Anders N, Konig I, Kruger U, Schmidt D, Berking C, et al. Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma. Arch Dermatol Res. 2007;298:371-9 pubmed..047). There was no effect of homozygous GST M1 or T1 deletions on melanoma risk. In contrast to previous data, there was no evidence that GSTM1 deficiency influences melanoma risk in the subgroup of individuals with red or blond hair. ..
- Wielgus A, Sarna T. Melanin in human irides of different color and age of donors. Pigment Cell Res. 2005;18:454-64 pubmed..Although some differences in the structure of eumelanin present in the human and bovine irides are possible, the results obtained in this study suggest that human irides contain eumelanin with very similar chemical properties. ..
- Namciu S, Fournier R. Human matrix attachment regions are necessary for the establishment but not the maintenance of transgene insulation in Drosophila melanogaster. Mol Cell Biol. 2004;24:10236-45 pubmed..These observations are not compatible with the chromosomal loop model in its simplest form. Alternate mechanisms for MAR function in this system are proposed. ..
- Donnelly M, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu R, et al. A global view of the OCA2-HERC2 region and pigmentation. Hum Genet. 2012;131:683-96 pubmed publisher..Our data suggest that the haplotype restricted to Europe is the strongest marker for blue eyes globally and add further inferential evidence that the derived allele of rs1800414 is an East Asian skin pigmentation allele. ..
- Kanetsky P, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck T. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet. 2002;70:770-5 pubmed..This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk. ..
- Spichenok O, Budimlija Z, Mitchell A, Jenny A, Kovacevic L, Marjanovic D, et al. Prediction of eye and skin color in diverse populations using seven SNPs. Forensic Sci Int Genet. 2011;5:472-8 pubmed publisher..Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration...
- Volpato G, Luchiari A, Duarte C, Barreto R, Ramanzini G. Eye color as an indicator of social rank in the fish Nile tilapia. Braz J Med Biol Res. 2003;36:1659-63 pubmedWe investigated the association of eye color with the dominant-subordinate relationship in the fish Nile tilapia, Oreochromis niloticus. Eye color pattern was also examined in relation to the intensity of attacks...
- Frudakis T, Thomas M, Gaskin Z, Venkateswarlu K, Chandra K, Ginjupalli S, et al. Sequences associated with human iris pigmentation. Genetics. 2003;165:2071-83 pubmed
- Duffy D, Box N, Chen W, Palmer J, Montgomery G, James M, et al. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet. 2004;13:447-61 pubmed..1 and 10.8%, respectively. To assess the interaction of the brown eye color gene OCA2 on the phenotypic effects of variant MC1R alleles we included eye color as a covariate, and also ..
- Edwards M, Gozdzik A, Ross K, Miles J, Parra E. Technical note: quantitative measures of iris color using high resolution photographs. Am J Phys Anthropol. 2012;147:141-9 pubmed publisher..This is partly related to difficulties associated with obtaining quantitative measurements of eye color. Here we introduce a new automated method for measuring iris color using high resolution photographs...
- Geigy C, Heid S, Steffen F, Danielson K, Jaggy A, Gaillard C. Does a pleiotropic gene explain deafness and blue irises in white cats?. Vet J. 2007;173:548-53 pubmed..The high heritability coefficients for both traits, 0.55 and 0.75 respectively, indicate that beside the major gene there is an important influence of polygenic effects. ..
- Liu F, Wollstein A, Hysi P, Ankra Badu G, Spector T, Park D, et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet. 2010;6:e1000934 pubmed publisher..Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a ..
- Green E, Campesan S, Breda C, Sathyasaikumar K, Muchowski P, Schwarcz R, et al. Drosophila eye color mutants as therapeutic tools for Huntington disease. Fly (Austin). 2012;6:117-20 pubmed publisher..Our results provide further support for the possibility of therapeutic KP interventions in HD. ..
- Ruiz Y, Phillips C, Gomez Tato A, Alvarez Dios J, Casares de Cal M, Cruz R, et al. Further development of forensic eye color predictive tests. Forensic Sci Int Genet. 2013;7:28-40 pubmed publisher..both focused on forensic testing, have analyzed single nucleotide polymorphism (SNP) genotypes underlying common eye color variation (Mengel-From et al., Forensic Sci. Int. Genet. 4:323 and Walsh et al., Forensic Sci. Int. Genet...
- Allwood J, Harbison S. SNP model development for the prediction of eye colour in New Zealand. Forensic Sci Int Genet. 2013;7:444-52 pubmed publisher..Classification trees offer an aesthetically simple and comprehendible model to predict blue and brown eye colour. ..
- Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Magnusson K, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39:1443-52 pubmed..hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles...
- Zhang P, Watanabe K. Preliminary study on eye colour in Japanese macaques (Macaca fuscata) in their natural habitat. Primates. 2007;48:122-9 pubmed..Eye colour variation of Japanese macaques was discussed in relation to those of humans and rhesus macaques. A possible evolutionary model of eye colour in Japanese macaques was discussed. ..
- Tomany S, Klein R, Klein B. The relationship between iris color, hair color, and skin sun sensitivity and the 10-year incidence of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology. 2003;110:1526-33 pubmed..Iris color and hair color were found to be associated with the 10-year incidence of pigmentary abnormalities. Iris color seems to be inconsistently related to the 10-year incidence of early ARM lesions and the progression of ARM. ..
- Kaplan R, Burke J, Terrill T, Miller J, Getz W, Mobini S, et al. Validation of the FAMACHA eye color chart for detecting clinical anemia in sheep and goats on farms in the southern United States. Vet Parasitol. 2004;123:105-20 pubmed..However, further studies are required to determine optimal strategies for incorporating FAMACHA-based selective treatment protocols into integrated nematode control programs...
- Kobayashi H, Kohshima S. Unique morphology of the human eye and its adaptive meaning: comparative studies on external morphology of the primate eye. J Hum Evol. 2001;40:419-35 pubmed..The uniqueness of human eye morphology among primates illustrates the remarkable difference between human and other primates in the ability to communicate using gaze signals. ..
- Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat. 2005;25:278-84 pubmed..polymorphisms (SNPs) in the MATP gene to determine if they are associated with normal human skin, hair, and eye color variation...
- Jannot A, Meziani R, Bertrand G, Gerard B, Descamps V, Archimbaud A, et al. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet. 2005;13:913-20 pubmed..Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma. ..
- Abraham E, Sezutsu H, Kanda T, Sugasaki T, Shimada T, Tamura T. Identification and characterisation of a silkworm ABC transporter gene homologous to Drosophila white. Mol Gen Genet. 2000;264:11-9 pubmed..The level of Bmwh3 mRNA was reduced in w3 and w3ol mutants but normal in other egg- and eye-colour mutants, suggesting that Bmwh3 correspond to the w3 locus. Genetic analysis was used to map the cloned gene to chromosome 10...
- Bradley B, Pedersen A, Mundy N. Blue eyes in lemurs and humans: same phenotype, different genetic mechanism. Am J Phys Anthropol. 2009;139:269-73 pubmed publisher..Recent work on humans indicates that blue eye color is associated with, and likely caused by, a single nucleotide polymorphism (rs12913832) in an intron of the gene ..
- Oetting W, Garrett S, Brott M, King R. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005;25:323 pubmed..This information will also help define the critical functional domains of the P protein. Mutations associated with OCA2 can be found in the Albinism Database (http://albinismdb.med.umn.edu). ..
- Sturm R. Molecular genetics of human pigmentation diversity. Hum Mol Genet. 2009;18:R9-17 pubmed publisher..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. ..
- Sturm R, Larsson M. Genetics of human iris colour and patterns. Pigment Cell Melanoma Res. 2009;22:544-62 pubmed publisher..Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6. ..
- Valenzuela R, Henderson M, Walsh M, Garrison N, Kelch J, Cohen Barak O, et al. Predicting phenotype from genotype: normal pigmentation. J Forensic Sci. 2010;55:315-22 pubmed publisher..or animal pigmentation studies) for the analysis of single- and multi-locus associations with hair, skin, and eye color in 789 individuals of various ethnic backgrounds...
- Duffy D, Montgomery G, Chen W, Zhao Z, Le L, James M, et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet. 2007;80:241-52 pubmed..shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and ..
- Kastelic V, Drobnic K. A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model. Croat Med J. 2012;53:401-8 pubmed..More samples from different populations should be analyzed before this assay could be used as one of the supplemental tools in tracing unknown individuals in more complicated crime investigations. ..
- Sevrioukov E, He J, Moghrabi N, Sunio A, Kramer H. A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila. Mol Cell. 1999;4:479-86 pubmedDeep orange and carnation are two of the classic eye color genes in Drosophila. Here, we demonstrate that Deep orange is part of a protein complex that localizes to endosomal compartments...
- Rosso S, Miñarro R, Schraub S, Tumino R, Franceschi S, Zanetti R. Reproducibility of skin characteristic measurements and reported sun exposure history. Int J Epidemiol. 2002;31:439-46 pubmed..However, since measurement error can substantially bias OR toward the null value, it should be taken into account in estimates of the effect of sun exposure on risk of skin cancer. ..
- Sturm R, Frudakis T. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004;20:327-32 pubmed..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. ..
- Zhu G, Evans D, Duffy D, Montgomery G, Medland S, Gillespie N, et al. A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q. Twin Res. 2004;7:197-210 pubmedWe have rated eye color on a 3-point scale (1 = blue/grey, 2 = hazel/green, 3 = brown) in 502 twin families and carried out a 5-10 cM genome scan (400-757 markers)...
- Larsson M, Pedersen N, Stattin H. Importance of genetic effects for characteristics of the human iris. Twin Res. 2003;6:192-200 pubmed..The iris characteristics that showed the next highest additive-genetic effect were "contractional furrows" (78%) and "frequency of crypts" in the main stroma leaf (66%). ..
- Rebbeck T, Kanetsky P, Walker A, Holmes R, Halpern A, Schuchter L, et al. P gene as an inherited biomarker of human eye color. Cancer Epidemiol Biomarkers Prev. 2002;11:782-4 pubmedHuman pigmentation, including eye color, has been associated with skin cancer risk...
- Pneuman A, Budimlija Z, Caragine T, Prinz M, Wurmbach E. Verification of eye and skin color predictors in various populations. Leg Med (Tokyo). 2012;14:78-83 pubmed publisher..the predictor that describes individual eye colors (blue, brown, and intermediate/green), because of uncertainties with the green eye color prediction. Our investigation deepens the insight for these predictors and adds new information.
- Beleza S, Johnson N, Candille S, Absher D, Coram M, Lopes J, et al. Genetic architecture of skin and eye color in an African-European admixed population. PLoS Genet. 2013;9:e1003372 pubmed publisherVariation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ..
- Wolf P, Quehenberger F, Mullegger R, Stranz B, Kerl H. Phenotypic markers, sunlight-related factors and sunscreen use in patients with cutaneous melanoma: an Austrian case-control study. Melanoma Res. 1998;8:370-8 pubmed..However, sunbaths had no protective value when they were associated with sunburns. Although we cannot exclude the presence of an unknown confounding factor, our results suggest that the use of sunscreens does not help prevent melanoma. ..
- Juraschko K, Meyer Lindenberg A, Nolte I, Distl O. Analysis of systematic effects on congenital sensorineural deafness in German Dalmatian dogs. Vet J. 2003;166:164-9 pubmed..53+/-0.41 and with presence of patches r(g)=-0.36+/-0.24. We concluded that additional genes other than those associated with phenotypic colour markers in German Dalmatian dogs significantly contribute to the occurrence of CSD. ..
- Mengel From J, Børsting C, Sanchez J, Eiberg H, Morling N. Human eye colour and HERC2, OCA2 and MATP. Forensic Sci Int Genet. 2010;4:323-8 pubmed publisher..Diplotype analysis of three sequence variations in HERC2 and one sequence variation in OCA2 showed the best discrimination between light and dark eye colours with a likelihood ratio of 29.3. ..
- Branicki W, Brudnik U, Wojas Pelc A. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet. 2009;73:160-70 pubmed publisher..Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample. ..
- Sturm R, Duffy D, Zhao Z, Leite F, Stark M, Hayward N, et al. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet. 2008;82:424-31 pubmed publisher..SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eye color. In the present work, we describe additional fine association mapping of eye color SNPs in the intergenic region ..
- Kayser M, Liu F, Janssens A, Rivadeneira F, Lao O, van Duijn K, et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet. 2008;82:411-23 pubmed publisher..Testing markers in the HERC2-OCA2 region may be useful in forensic applications to predict eye color phenotypes of unknown persons of European genetic origin.
- Birchler J, Bhadra U, Rabinow L, Linsk R, Nguyen Huynh A. Weakener of white (Wow), a gene that modifies the expression of the white eye color locus and that suppresses position effect variegation in Drosophila melanogaster. Genetics. 1994;137:1057-70 pubmedA locus is described in Drosophila melanogaster that modifies the expression of the white eye color gene. This trans-acting modifier reduces the expression of the white gene in the eye, but elevates the expression in other adult tissues...
- Eiberg H, Mohr J. Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. Eur J Hum Genet. 1996;4:237-41 pubmed..93; theta M = F = 0.10). The gene (DN10 or P) homologous to the pink-eye-dilution gene (p) in mice could be a candidate gene for BEY2 or for HCL3. ..