eye color

Summary

Summary: Color of the iris.

Top Publications

  1. ncbi Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery
    V Lloyd
    Dept of Biology and Biochemistry, Mt Allison University, Sackville, NB, Canada
    Trends Cell Biol 8:257-9. 1998
  2. ncbi A golden age of human pigmentation genetics
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Trends Genet 22:464-8. 2006
  3. ncbi The influence of social status on the rate of growth, eye color pattern and insulin-like growth factor-I gene expression in Nile tilapia, Oreochromis niloticus
    Emmanuel M Vera Cruz
    Department of Biological Sciences, Florida International University, North Miami, Florida 33181, USA
    Horm Behav 51:611-9. 2007
  4. pmc Genetic architecture of skin and eye color in an African-European admixed population
    Sandra Beleza
    Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS Genet 9:e1003372. 2013
  5. ncbi Prediction of eye and skin color in diverse populations using seven SNPs
    Olga Spichenok
    Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, 421 East 26th Street, New York, NY, USA
    Forensic Sci Int Genet 5:472-8. 2011
  6. ncbi The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA
    Susan Walsh
    Department of Forensic Molecular Biology, Erasmus MC University Medical Centre Rotterdam, The Netherlands
    Forensic Sci Int Genet 7:98-115. 2013
  7. pmc A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
  8. ncbi Verification of eye and skin color predictors in various populations
    Amanda Pneuman
    Department of Forensic Biology, Office of Chief Medical Examiner of the City of New York, 421 E 26th Street, New York, NY, USA
    Leg Med (Tokyo) 14:78-83. 2012
  9. ncbi Genetic determinants of hair, eye and skin pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:1443-52. 2007
  10. ncbi Two newly identified genetic determinants of pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:835-7. 2008

Detail Information

Publications180 found, 100 shown here

  1. ncbi Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery
    V Lloyd
    Dept of Biology and Biochemistry, Mt Allison University, Sackville, NB, Canada
    Trends Cell Biol 8:257-9. 1998
    ..Thus, classical work describing more than 85 eye-colour mutations and their genetic interactions offers a remarkable, untapped resource for the genetic analysis of protein delivery to lysosomes...
  2. ncbi A golden age of human pigmentation genetics
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Trends Genet 22:464-8. 2006
    ..SLC24A5 promotes melanin deposition through maturation of the melanosome, highlighting the importance of ion-exchange in the function of this organelle...
  3. ncbi The influence of social status on the rate of growth, eye color pattern and insulin-like growth factor-I gene expression in Nile tilapia, Oreochromis niloticus
    Emmanuel M Vera Cruz
    Department of Biological Sciences, Florida International University, North Miami, Florida 33181, USA
    Horm Behav 51:611-9. 2007
    ..To evaluate the relationship of social status with growth, eye color pattern and hepatic Insulin-like Growth Factor-I (IGF-I) mRNA expression, 30 Oreochromis niloticus were isolated ..
  4. pmc Genetic architecture of skin and eye color in an African-European admixed population
    Sandra Beleza
    Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS Genet 9:e1003372. 2013
    Variation 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 ..
  5. ncbi Prediction of eye and skin color in diverse populations using seven SNPs
    Olga Spichenok
    Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, 421 East 26th Street, New York, NY, USA
    Forensic Sci Int Genet 5:472-8. 2011
    ..Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration...
  6. ncbi The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA
    Susan Walsh
    Department of Forensic Molecular Biology, Erasmus MC University Medical Centre Rotterdam, The Netherlands
    Forensic Sci Int Genet 7:98-115. 2013
    ....
  7. pmc A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
    ..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 ..
  8. ncbi Verification of eye and skin color predictors in various populations
    Amanda Pneuman
    Department of Forensic Biology, Office of Chief Medical Examiner of the City of New York, 421 E 26th Street, New York, NY, USA
    Leg Med (Tokyo) 14:78-83. 2012
    ..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.
  9. ncbi Genetic determinants of hair, eye and skin pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:1443-52. 2007
    ..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...
  10. ncbi Two newly identified genetic determinants of pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 40:835-7. 2008
    ....
  11. ncbi 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
    Hans Eiberg
    Department of Cellular and Molecular Medicine, Section IV Build 24 4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen, Denmark
    Hum Genet 123:177-87. 2008
    The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation...
  12. ncbi Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
    Justin Graf
    Cooperative Research Centre for Diagnostics, School of Life Sciences, Queensland University of Technology, Brisbane, Queensland, Australia
    Hum Mutat 25:278-84. 2005
    ..polymorphisms (SNPs) in the MATP gene to determine if they are associated with normal human skin, hair, and eye color variation...
  13. ncbi IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information
    Susan Walsh
    Department of Forensic Molecular Biology, Erasmus University Medical Centre Rotterdam, Rotterdam, The Netherlands
    Forensic Sci Int Genet 5:170-80. 2011
    ....
  14. ncbi Drosophila eye color mutants as therapeutic tools for Huntington disease
    Edward W Green
    Department of Genetics, University of Leicester, Leicestershire, UK
    Fly (Austin) 6:117-20. 2012
    ..Our results provide further support for the possibility of therapeutic KP interventions in HD...
  15. ncbi Further development of forensic eye color predictive tests
    Y Ruiz
    Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Spain
    Forensic Sci Int Genet 7:28-40. 2013
    ..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...
  16. pmc A global view of the OCA2-HERC2 region and pigmentation
    Michael P Donnelly
    Department of Genetics, School of Medicine, Yale University, New Haven, CT 06520, USA
    Hum Genet 131:683-96. 2012
    ..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...
  17. pmc Digital quantification of human eye color highlights genetic association of three new loci
    Fan Liu
    Department of Forensic Molecular Biology, Erasmus University Medical Center, Rotterdam, The Netherlands
    PLoS Genet 6:e1000934. 2010
    ..Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a ..
  18. pmc A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    David L Duffy
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 80:241-52. 2007
    ..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 ..
  19. ncbi Gene-gene interactions contribute to eye colour variation in humans
    Ewelina Pośpiech
    Section of Forensic Genetics, Institute of Forensic Research, Krakow, Poland
    J Hum Genet 56:447-55. 2011
    ....
  20. ncbi DNA-based eye colour prediction across Europe with the IrisPlex system
    Susan Walsh
    Department of Forensic Molecular Biology, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands
    Forensic Sci Int Genet 6:330-40. 2012
    ....
  21. pmc Sequences associated with human iris pigmentation
    Tony Frudakis
    DNAPrint Genomics, Sarasota, Florida 34236, USA
    Genetics 165:2071-83. 2003
    ....
  22. pmc A polymorphism in the agouti signaling protein gene is associated with human pigmentation
    Peter A Kanetsky
    Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 6021, USA
    Am J Hum Genet 70:770-5. 2002
    ..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...
  23. ncbi Unique morphology of the human eye and its adaptive meaning: comparative studies on external morphology of the primate eye
    H Kobayashi
    Biological Laboratory, Faculty of Bioscience and Biotechnology, Tokyo Institute of Technology, c o Faculty of Science, 12 1, O okayama 2 chome, Meguro ku, Tokyo, 152 8551, Japan
    J Hum Evol 40:419-35. 2001
    ..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...
  24. ncbi Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype
    Wojciech Branicki
    Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland
    Ann Hum Genet 73:160-70. 2009
    ..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...
  25. ncbi Does a pleiotropic gene explain deafness and blue irises in white cats?
    Caroline A Geigy
    Institute of Animal Genetics, Nutrition and Housing, Vetsuisse Faculty of the University of Berne, Switzerland
    Vet J 173:548-53. 2007
    ..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...
  26. ncbi Human eye colour and HERC2, OCA2 and MATP
    Jonas Mengel-From
    Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V s Vej, DK 2100 Copenhagen, Denmark
    Forensic Sci Int Genet 4:323-8. 2010
    ..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...
  27. pmc 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
    Vanja Kastelic
    National Forensic Laboratory, General Police Directorate, Police, Ministry of the Interior, Vodovodna 95, Ljubljana, Slovenia
    Croat Med J 53:401-8. 2012
    ..To analyze two phenotype characteristics--eye and hair color--using single-nucleotide polymorphisms (SNPs) and evaluate their prediction accuracy in Slovenian population...
  28. pmc Predicting phenotype from genotype: normal pigmentation
    Robert K Valenzuela
    Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA
    J Forensic Sci 55:315-22. 2010
    ..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...
  29. ncbi Analysis of systematic effects on congenital sensorineural deafness in German Dalmatian dogs
    K Juraschko
    Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bunteweg 17p, 30559, Hannover, Germany
    Vet J 166:164-9. 2003
    ..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...
  30. ncbi Prediction of eye color from genetic data using Bayesian approach
    Ewelina Pośpiech
    Section of Forensic Genetics, Institute of Forensic Research, Krakow, Poland
    J Forensic Sci 57:880-6. 2012
    ..Here, on the basis of genetic data for the six most relevant eye color predictors, two alternative Bayesian network model variants were developed and evaluated for their accuracy in ..
  31. ncbi Eye colour: portals into pigmentation genes and ancestry
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Trends Genet 20:327-32. 2004
    ..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...
  32. ncbi Reproducibility of skin characteristic measurements and reported sun exposure history
    Stefano Rosso
    CPO Registro Tumori Piemonte, Turin, Italy
    Int J Epidemiol 31:439-46. 2002
    ..We also intended to use results from reproducibility analysis for correcting odds ratio (OR) estimates from the original study...
  33. ncbi Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence
    Susan Walsh
    Department of Forensic Molecular Biology, Erasmus MC University Medical Centre, Dr Molewaterplein 50, 3015 GE Rotterdam, Zuid Holland, The Netherlands
    Forensic Sci Int Genet 5:464-71. 2011
    ....
  34. ncbi Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma
    Anne Sophie Jannot
    Unite INSERM 535 Génétique Epidémiologique et Structure des Populations Humaines, Hopital Paul Brousse, Villejuif, France
    Eur J Hum Genet 13:913-20. 2005
    ..Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma...
  35. ncbi Phenotypic markers, sunlight-related factors and sunscreen use in patients with cutaneous melanoma: an Austrian case-control study
    P Wolf
    Department of Dermatology, Karl Franzens University, Graz, Austria
    Melanoma Res 8:370-8. 1998
    ..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...
  36. ncbi Genetic analyses of the human eye colours using a novel objective method for eye colour classification
    Jeppe D Andersen
    Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK 2100 Copenhagen, Denmark
    Forensic Sci Int Genet 7:508-15. 2013
    ....
  37. ncbi SNP model development for the prediction of eye colour in New Zealand
    Julia S Allwood
    Institute of Environmental Science and Research ESR Ltd, Mt Albert Science Centre, Private Bag 92 021, Auckland Mail Centre, Auckland 1142, New Zealand
    Forensic Sci Int Genet 7:444-52. 2013
    ..Classification trees offer an aesthetically simple and comprehendible model to predict blue and brown eye colour...
  38. pmc Improved eye- and skin-color prediction based on 8 SNPs
    Katie L Hart
    Office of Chief Medical Examiner, Department of Forensic Biology, 421East 26th Street, Box 12 79, New York, NY 10016, USA
    Croat Med J 54:248-56. 2013
    ..To improve the 7-plex system to predict eye and skin color by increasing precision and detailed phenotypic descriptions...
  39. ncbi Melanin in human irides of different color and age of donors
    Albert R Wielgus
    Department of Biophysics, Faculty of Biotechnology, Jagiellonian University, ul Gronostajowa 7, 30 387 Krakow, Poland
    Pigment Cell Res 18:454-64. 2005
    ..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...
  40. ncbi Transport defects as the physiological basis for eye color mutants of Drosophila melanogaster
    D T Sullivan
    Biochem Genet 13:603-13. 1975
    ..were studied in organ culture using the Malpighian tubules and developing eyes from wild type and the eye color mutants w, st, ltd, ca, and cn of Drosophila melanogaster...
  41. pmc The multicentre south European study 'Helios'. I: Skin characteristics and sunburns in basal cell and squamous cell carcinomas of the skin
    R Zanetti
    , Escuela Andaluza de Salud Publica, Spain
    Br J Cancer 73:1440-6. 1996
    ..Nevertheless, its association with BCC suggests, by analogy with melanoma, a relationship with intense sun exposure. Conversely, SCC would require prolonged exposure to sunlight...
  42. ncbi Molecular genetics of human pigmentation diversity
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Hum Mol Genet 18:R9-17. 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...
  43. ncbi Technical note: quantitative measures of iris color using high resolution photographs
    Melissa Edwards
    Department of Anthropology, University of Toronto Mississauga, Ontario, Canada
    Am J Phys Anthropol 147:141-9. 2012
    ..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...
  44. ncbi Preliminary study on eye colour in Japanese macaques (Macaca fuscata) in their natural habitat
    Peng Zhang
    Primate Research Institute, Kyoto University, Inuyama, Aichi 484 8506, Japan
    Primates 48:122-9. 2007
    ..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...
  45. ncbi Blue eyes in lemurs and humans: same phenotype, different genetic mechanism
    Brenda J Bradley
    Department of Zoology, University of Cambridge, Cambridge CB2 3EJ, UK
    Am J Phys Anthropol 139:269-73. 2009
    ..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 ..
  46. ncbi Transient expression of the Drosophila melanogaster cinnabar gene rescues eye color in the white eye (WE) strain of Aedes aegypti
    A J Cornel
    Department of Biological Sciences, Galvin Life Sciences, University of Notre Dame, IN 46556, USA
    Insect Biochem Mol Biol 27:993-7. 1997
    ..Partial restoration of eye color (orange to red phenotype) in pupae and adults occurred in both sexes when first or second instar larvae were ..
  47. ncbi Interactive effects of MC1R and OCA2 on melanoma risk phenotypes
    David L Duffy
    Queensland Insititute of Medical Research, Brisbane, Australia
    Hum Mol Genet 13:447-61. 2004
    ..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 ..
  48. ncbi Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
    Anthony L Cook
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
    J Invest Dermatol 129:392-405. 2009
    ....
  49. ncbi P gene mutations associated with oculocutaneous albinism type II (OCA2)
    William S Oetting
    Department of Medicine, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Hum Mutat 25:323. 2005
    ..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)...
  50. pmc Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study
    V Bataille
    ICRF Skin Tumour Laboratory, London Hospital Medical College, UK
    Br J Cancer 73:1605-11. 1996
    ..9 (95% CI 2.9-16.6) if aged 40 or more. The AMS phenotype was strongly predictive of an increased risk of melanoma outside the familial context...
  51. ncbi A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q
    Gu Zhu
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res 7:197-210. 2004
    We 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)...
  52. pmc Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet
    C E Ooi
    Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    EMBO J 16:4508-18. 1997
    ..We report here that a defect in a gene encoding a putative coat adaptor protein leads to the eye color defect of garnet mutants...
  53. ncbi P gene as an inherited biomarker of human eye color
    Timothy R Rebbeck
    Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Epidemiol Biomarkers Prev 11:782-4. 2002
    Human pigmentation, including eye color, has been associated with skin cancer risk...
  54. doi Eye color and the prediction of complex phenotypes from genotypes
    Fan Liu
    Curr Biol 19:R192-3. 2009
  55. ncbi Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma
    Rotraut Mossner
    Department of Dermatology, Georg August University, von Siebold Strasse 3, 37075, Gottingen, Germany
    Arch Dermatol Res 298:371-9. 2007
    ..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...
  56. ncbi Eye color as an indicator of social rank in the fish Nile tilapia
    G L Volpato
    Research Center on Animal Welfare RECAW, Laborat rio de Fisiologia e Comportamento Animal, Departamento de Fisiologia, Instituto de Biociencias, Universidade Estadual Paulista, Botucatu, SP, Brasil
    Braz J Med Biol Res 36:1659-63. 2003
    We 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...
  57. ncbi Multilocus OCA2 genotypes specify human iris colors
    Tony Frudakis
    DNAPrint Genomics, Inc, 1621 W University Pkwy, Sarasota, FL 34243, USA
    Hum Genet 122:311-26. 2007
    ....
  58. ncbi A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila
    E A Sevrioukov
    Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Mol Cell 4:479-86. 1999
    Deep 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...
  59. ncbi Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q
    H Eiberg
    University Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Danish Centre for Genome Research, Copenhagen, Denmark
    Eur J Hum Genet 4:237-41. 1996
    ..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...
  60. ncbi 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
    Sandra C Tomany
    Department of Ophthalmology and Visual Sciences, University of Wisconsin Medical School, Madison, Wisconsin 53726 2397, USA
    Ophthalmology 110:1526-33. 2003
    ..To examine the association between iris color, hair color, and skin sun sensitivity and the 10-year incidence of age-related maculopathy (ARM)...
  61. pmc 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
    J A Birchler
    Division of Biological Sciences, University of Missouri, Columbia 65211
    Genetics 137:1057-70. 1994
    A 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...
  62. pmc The su(Hw) protein insulates expression of the Drosophila melanogaster white gene from chromosomal position-effects
    R R Roseman
    Department of Biochemistry, University of Iowa, College of Medicine, Iowa City 52242
    EMBO J 12:435-42. 1993
    ..This separates enhancers and silencers distal to the su(Hw) binding region into an independent unit of gene activity, thereby causing their inactivation...
  63. ncbi High levels of melanin-related metabolites in plasma from pink-eyed dilution mice
    Kazumasa Wakamatsu
    Pigment Cell Res 20:222-4. 2007
  64. ncbi Importance of genetic effects for characteristics of the human iris
    Mats Larsson
    Department of Behavioral, Social and Legal Sciences, Center for Developmental Research, Orebro University, Sweden
    Twin Res 6:192-200. 2003
    ..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%)...
  65. pmc The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains
    M H Brilliant
    Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111
    Genetics 138:203-11. 1994
    ..129(21M), and may account for the enhanced Myod1 activity observed in SJL/J mice...
  66. pmc Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
    Manfred Kayser
    Department of Forensic Molecular Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
    Am J Hum Genet 82:411-23. 2008
    ..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.
  67. pmc Human matrix attachment regions are necessary for the establishment but not the maintenance of transgene insulation in Drosophila melanogaster
    Stephanie J Namciu
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave N, Seattle, WA 98109, USA
    Mol Cell Biol 24:10236-45. 2004
    ..These observations are not compatible with the chromosomal loop model in its simplest form. Alternate mechanisms for MAR function in this system are proposed...
  68. ncbi Validation of the FAMACHA eye color chart for detecting clinical anemia in sheep and goats on farms in the southern United States
    R M Kaplan
    Department of Medical Microbiology and Parasitology, College of Veterinary Medicine, University of Georgia, Athens, GA 30602, USA
    Vet Parasitol 123:105-20. 2004
    ..However, further studies are required to determine optimal strategies for incorporating FAMACHA-based selective treatment protocols into integrated nematode control programs...
  69. ncbi Genetics of human iris colour and patterns
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 22:544-62. 2009
    ..Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6...
  70. ncbi Identification and characterisation of a silkworm ABC transporter gene homologous to Drosophila white
    E G Abraham
    Department of Insect Genetics and Breeding, National Institute of Sericultural and Entomological Sciences, Tsukuba, Ibaraki, Japan
    Mol Gen Genet 264:11-9. 2000
    ..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...
  71. ncbi Case-control study to identify melanoma risk factors in the Belgian population: the significance of clinical examination
    T Nijsten
    Department of Dermatology, University Hospital Antwerp, Wilrijkstraat 10, B Julien Lambert 2650 Edegem, Belgium
    J Eur Acad Dermatol Venereol 19:332-9. 2005
    ..Although numerous studies have evaluated risk factors associated with cutaneous malignant melanoma (CMM), no such study has been carried out in Belgium...
  72. ncbi Monte Carlo simulation of latanoprost induced iris darkening
    K P B Cracknell
    Unit of Ophthalmology, Department of Medicine, University of Liverpool, Liverpool L69 3GA, United Kingdom
    Comput Methods Programs Biomed 87:93-103. 2007
    ..The MC simulated colours were in good agreement with the in vivo photography of the eye colour. Hence, we have demonstrated that increases in melanin granule size causes iris darkening, and can explain LIID...
  73. ncbi Morphometric effects of long-term exposure to latanoprost
    Kathryn P B Cracknell
    St Paul s Unit of Ophthalmology, Department of Medicine, Royal Liverpool University Hospital, Liverpool, United Kingdom
    Ophthalmology 114:938-48. 2007
    ..To investigate the morphological and melanin granule changes in irides after variable-term exposure to latanoprost, where the latanoprost-induced iris darkening (LIID) side effect has been identified and photographically recorded...
  74. ncbi Sun exposure, phenotypic characteristics, and cutaneous malignant melanoma. An analysis according to different clinico-pathological variants and anatomic locations (Italy)
    Luigi Naldi
    Clinica Dermatologica, Ospedali Riuniti di Bergamo, Universita degli Studi di Milano Bicocca, Bergamo, Italy
    Cancer Causes Control 16:893-9. 2005
    ..The aim of the study was to examine the relation between sun exposure and other selected risk factors and the development of different clinico-pathological variants of cutaneous malignant melanoma (CMM) at different body locations...
  75. ncbi Iridial pigmentation induced by latanoprost ophthalmic solution in Japanese glaucoma patients
    T Chiba
    Department of Ophthalmology, Yamanashi Medical University, Tamaho, Yamanashi, Japan
    J Glaucoma 10:406-10. 2001
    ..CONCLUSION: The incidence of iridial pigmentation by latanoprost ophthalmic solution in Japanese patients was higher than previously reported values in pigmented races...
  76. ncbi Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands
    Ricardo F de-Misa
    Dermatology Department, Research Unit, Medical Oncology Department, Nuestra Señora de Candelaria University Hospital and Gerencia de Atención Primaria, Santa Cruz de Tenerife, Spain
    Int J Dermatol 47:806-11. 2008
    ..The Canary Islands have a sunny and temperate climate, but data regarding the phenotypic and genotypic risk factors among the population are lacking...
  77. pmc UV radiation exposure, skin type and lymphoid malignancies: results of a French case-control study
    L Grandin
    INSERM U754, 16 Avenue Paul Vaillant Couturier, Villejuif, France
    Cancer Causes Control 19:305-15. 2008
    ..Investigating the relationship between skin type, UV exposure, and lymphoid malignancies (LM)...
  78. ncbi Does a high UV environment ensure adequate vitamin D status?
    Michael Kimlin
    Institute of Health and Biomedical Innovation, Queensland University of Technology, Australia
    J Photochem Photobiol B 89:139-47. 2007
    ..No associations were found between 25(OH)D status and age, gender, smoking status, or the use of sunscreen...
  79. ncbi Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes
    An Chi
    Department of Chemistry, University of Virginia, Charlottesville, Virginia 22904, USA
    J Proteome Res 5:3135-44. 2006
    ..The sharing of proteins between melanosomes and other lysosome-related organelles suggests a common evolutionary origin. This work represents a model for the study of the biogenesis of lysosome-related organelles...
  80. ncbi The association between host susceptibility factors and uveal melanoma: a meta-analysis
    Ezekiel Weis
    Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA
    Arch Ophthalmol 124:54-60. 2006
    ..To conduct a meta-analysis, using observational studies, to examine the association between host susceptibility factors and uveal melanoma...
  81. ncbi Risk factors for histological types and anatomic sites of cutaneous basal-cell carcinoma: an italian case-control study
    Claudio Pelucchi
    Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy
    J Invest Dermatol 127:935-44. 2007
    ..74 for truncal location. Direct associations were observed with recreational sunlight exposure, eye color, red hair, and number and early age of severe sunburn episodes, along with some differences in risk between ..
  82. ncbi Ambient UVB and melanoma risk in the United States: a case-control analysis
    C Suzanne Lea
    Department of Epidemiology and Public Health Biology, University of California, Berkeley, Berkeley, CA USA
    Ann Epidemiol 17:447-53. 2007
    ..This study assessed cumulative UVB using a ground-based measurement instrument to estimate the association between UVB and melanoma...
  83. ncbi Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries
    Alisa M Goldstein
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892, USA
    Int J Cancer 121:825-31. 2007
    ..Cases also varied significantly for eye color, freckling, and nevi...
  84. pmc Anthropometric measures in relation to basal cell carcinoma: a longitudinal study
    Catherine M Olsen
    Cancer and Population Studies Group, Queensland Institute of Medical Research, Brisbane, Australia
    BMC Cancer 6:82. 2006
    ....
  85. ncbi Phenotypical characteristics, lifestyle, social class and uveal melanoma
    Andreas Stang
    Institute for Medical Informatics, Biometry and Epidemiology, Medical Faculty, University of Essen, Germany
    Ophthalmic Epidemiol 10:293-302. 2003
    ..To investigate potential risk factors of uveal melanoma, including phenotypical characteristics, eye burns, social class, smoking and alcohol consumption...
  86. ncbi Common melanocytic nevi in 7-year-old schoolchildren residing at different latitudes in Sweden
    Ylva Rodvall
    Department of Occupational and Environmental Health, Karolinska Institutet, Norrbacka 3rd floor, SE 171 76 Stockholm, Sweden
    Cancer Epidemiol Biomarkers Prev 16:122-7. 2007
    ..The purpose of this study was to investigate the number of CMN in relation to tanning habits and complexion among 7-year-old children residing at different latitudes in Sweden...
  87. pmc Comparison of risk patterns in carcinoma and melanoma of the skin in men: a multi-centre case-case-control study
    R Zanetti
    CPO Registro Tumori Piemonte, via San Francesco da Paola 31, 10123 Turin, Italy
    Br J Cancer 94:743-51. 2006
    ..Factors influencing risk of SCC are different, with chronic exposure to sun playing a major role in causing this type of carcinoma...
  88. ncbi A design for cancer case-control studies using only incident cases: experience with the GEM study of melanoma
    Colin B Begg
    Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Int J Epidemiol 35:756-64. 2006
    ..The use of a novel case-control design in which cases have second primaries and controls are cancer survivors has been proposed for this purpose...
  89. ncbi Significance of glutathione S-transferases M1, T1 and P1 polymorphisms in Swedish melanoma patients
    H Bu
    Division of Dermatology, Department of Biomedicine and Surgery, Linkoping University, SE 581 85 Linkoping, Sweden
    Oncol Rep 17:859-64. 2007
    ..GSTP1 GG genotype was more often found in the patients with brown and mixed eye color or brown and black hair than those with blue and green eyes or blond hair...
  90. ncbi The clinical impact and incidence of periocular pigmentation associated with either latanoprost or bimatoprost therapy
    Elizabeth D Sharpe
    Glaucoma Consultants and Center For Eye Research, Mount Pleasant, South Carolina, USA
    Curr Eye Res 32:1037-43. 2007
    ..To evaluate the incidence and characteristics of periocular pigmentation with latanoprost versus bimatoprost...
  91. ncbi A study of iridectomy histopathologic features of latanoprost- and non-latanoprost-treated patients
    Daniel M Albert
    Department of Ophthalmology and Visual Sciences, University of Wisconsin Medical School, Madison, USA
    Arch Ophthalmol 122:1680-5. 2004
    ....
  92. ncbi Associations between prostate cancer susceptibility and parameters of exposure to ultraviolet radiation
    Dhaval Bodiwala
    Department of Urology, North Staffordshire Hospital, Staffordshire, UK
    Cancer Lett 200:141-8. 2003
    ..0) and 40.2% men with high scores (>8.0) had cancer. These subgroups were stratified by childhood sunburning, holidays in a hot climate and skin type such that subgroups with a 13.0-fold increased risk of cancer were identified...
  93. ncbi A prospective study of pigmentation, sun exposure, and risk of cutaneous malignant melanoma in women
    Marit Bragelien Veierød
    Section of Medical Statistics, University of Oslo, Oslo, Norway
    J Natl Cancer Inst 95:1530-8. 2003
    ..Here we report the first results from a large prospective cohort study of pigmentation factors and sun exposure in relation to melanoma risk...
  94. ncbi Determinants of skin sensitivity to solar irradiation
    W M R Broekmans
    TNO Nutrition and Food Research, Zeist, Netherlands
    Eur J Clin Nutr 57:1222-9. 2003
    ..Acute effects of UV irradiation include UV-induced erythema. Sunlight plays an important role in the development of skin cancer. Several predictive factors of UV-induced erythema could also be predictive for skin cancer...
  95. ncbi A standardized approach for iris color determination
    Birgit Niggemann
    Covance Laboratories GmbH, Munster, Germany
    Int J Toxicol 22:49-51. 2003
    ..This method provides a fast and accurate way to quantify color changes in the iris of both experimental animals and clinical trials...
  96. ncbi Induction and characterization of mutations at the b locus of the medaka, Oryzias latipes
    Atsuko Shimada
    Department of Biological Sciences, School of Science, University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 0033, Japan
    Zoolog Sci 19:411-7. 2002
    ..We speculate that the bv, B', bd, bdl1, and b alleles might arise by the mutations in the regulatory region for skin melanogenesis...
  97. ncbi Unoprostone isopropyl ester darkens iris color in pigmented rabbits with sympathetic denervation
    Gui Lin Zhan
    Department of Ophthalmology, University of Nebraska Medical Center, Omaha, Nebraska, USA
    J Glaucoma 12:383-9. 2003
    ..Unoprostone isopropyl ester (unoprostone) -induced iris color darkening was evaluated in a rabbit model using a cyclooxygenase inhibitor, an alpha(1)-adrenergic antagonist, and sympathetic denervation...
  98. ncbi The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    Pigment Cell Res 16:266-72. 2003
    ..To assess the interaction of the brown eye color gene BEY2/OCA2 on the phenotypic effects of variant MC1R alleles we imputed OCA2 genotype in the twin collection...
  99. ncbi Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences
    E Steingrimsson
    Mammalian Genetics Laboratory, ABL Basic Research Program, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702
    Nat Genet 8:256-63. 1994
    ..These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2...
  100. pmc Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations
    K J Moore
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research Facility, Maryland 21701
    Genetics 125:421-30. 1990
    ..Unexpectedly, dsu suppressed the ruby eye color of ruby-eye (ru) and ruby-eye-2 (ru-2) mice, to black...
  101. ncbi Misclassification due to body hair and seasonal variation on melanin density estimates for skin type using spectrophotometry
    Ingrid A F van der Mei
    Cooperative Research Centre for Discovery of Genes for Common Human Diseases at the Menzies Centre for Population Health Research, University of Tasmania, Tasmania, Australia
    J Photochem Photobiol B 68:45-52. 2002
    ..However, both sources of error can be reduced by careful attention to key aspects of study design...

Research Grants18

  1. Quantification of the environmental UVA exposure
    Michael Kimlin; Fiscal Year: 2008
    ..abstract_text> ..
  2. Statistical Methods for Identifying Clonal Tumors
    Colin B Begg; Fiscal Year: 2011
    ....
  3. Melanopsin-based form vision in photoreceptor disease
    MICHAEL SANDBERG; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  4. A Method for Validating Gene - Disease Associations
    Colin Begg; Fiscal Year: 2004
    ..abstract_text> ..
  5. Reading Enhancement for Patients with Visual Field Loss
    MICHAEL SANDBERG; Fiscal Year: 2004
    ....
  6. Pharmacogenetic Epidemiology of Birth Defects and Cancer
    Timothy Rebbeck; Fiscal Year: 2004
    ....
  7. Assay for Inhibitors of Angiogenesis and Anthrax Toxin Receptor 1
    Michael Rogers; Fiscal Year: 2007
    ..They may also be useful in treating toxicity associated with anthrax infection. [unreadable]..
  8. Minicomputer Upgrade for the Clinical Resarch Database
    Colin Begg; Fiscal Year: 2002
    ..This proposal is a request for funds to upgrade the hardware platform once again to maintain the performance of the system in the face of these rapidly increasing demands. ..
  9. Genetics of Wing and Cell-Size Evolution in Nasonia
    John Werren; Fiscal Year: 2008
    ....
  10. THE ROLE OF RB IN THE RETINA & OTHER TISSUES
    JAMES HARBOUR; Fiscal Year: 2009
    ..Consequently, these aims are highly relevant to the vision statement of the NEI, and they address several major program goals and objectives of the Retinal Diseases Program. ..
  11. Identification of Lens Development Genes
    Thomas Vihtelic; Fiscal Year: 2007
    ..The characterization of the molecular phenotype and determination of the underlying arl gene defect will lead to the identification of candidate genes in humans causing anterior segment dysgenesis and cataracts. ..
  12. Molecular Biology of Retinoblastoma
    Daniel Albert; Fiscal Year: 2006
    ..Lastly the potency of the 19-nor compounds wil be compared to standard chemotherapy and their possible synergistic effect in multi-drug treatment established. ..
  13. Subcortical Luminance Pathways
    PAUL GAMLIN; Fiscal Year: 2006
    ..Finally, beside their roles in pupil control and circadian rhythms, these ganglion cells project to the lateral geniculate nucleus and are likely to have very broad-reaching effect on other human visual behaviors. ..
  14. Epidemiologic Parameters of Rare Cancer Risk Factors
    Colin Begg; Fiscal Year: 2005
    ..All of these aims are motivated by an international study of the genetic epidemiology of melanoma that is currently in progress. ..
  15. MELANOMA AND ALLELIC VARIATION IN THE MCIR GENE
    Peter Kanetsky; Fiscal Year: 2005
    ..Result from this project may provide valuable insight into the genetic predisposition to melanoma seen in some families, and may lead to more efficient mechanisms of primary prevention and clinical follow-up within these families. ..
  16. NEURAL CONTROL OF VERGENCE AND OCULAR ACCOMMODATION
    PAUL GAMLIN; Fiscal Year: 2001
    ....
  17. Melanoma Pathogenesis
    Linda Titus Ernstoff; Fiscal Year: 2006
    ..e., slide preparation) of pathology specimens, and the refinement of laboratory techniques for analyzing chromosome 9p21 alterations. [unreadable] [unreadable]..
  18. COLLABORATIVE INITIAL GLAUCOMA TREATMENT STUDY
    Mark Sherwood; Fiscal Year: 2003
    ....