Colorful DNA polymorphisms in humans

Seminars in Cell and Developmental Biology

Volumn 24, Issue 6-7, 2013, Pages 562-575

  Liu, Fan ^a   Wen, Bei ^b   Kayser, Manfred ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Rathenau Institute KNAW   (Netherlands)

Author keywords

Association; DNA polymorphisms; Forensic DNA phenotyping; Human; Pigmentation; Prediction

Indexed keywords

AGOUTI PROTEIN; AMINO ACID; BASONUCLIN; BILIRUBIN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; DNA; DOPACHROME TAUTOMERASE; EUMELANIN; FOLIC ACID; G PROTEIN COUPLED RECEPTOR; GLUCURONOSYLTRANSFERASE; INTERFERON REGULATORY FACTOR 4; MELANIN; MELANOCORTIN 1 RECEPTOR; MONOPHENOL MONOOXYGENASE; PHEOMELANIN; POLYPEPTIDE; STEM CELL FACTOR; TRANSCRIPTION FACTOR; TYROSINASE RELATED PROTEIN 1; TYROSINE; UBIQUITIN PROTEIN LIGASE E3; VITAMIN D;

ADAPTATION; ALLELE; CANCER INCIDENCE; CHROMATIN; CHROMOSOME; CUTANEOUS MELANOMA; DISEASE ASSOCIATION; DNA MARKER; DNA POLYMORPHISM; ENVIRONMENT; EVOLUTIONARY ADAPTATION; EYE COLOR; FRAMESHIFT MUTATION; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; GENOTYPE; GILBERT DISEASE; HAIR COLOR; HETEROZYGOTE; HUMAN; HYDROXYLATION; IRIS; MALIGNANT LENTIGO; MELANOCYTE; MELANOGENESIS; MELANOMA; MELANOSOME; NATURAL SELECTION; PHENOTYPE; PHENOTYPIC VARIATION; PIGMENTATION; PREDICTIVE VALUE; RECESSIVE INHERITANCE; REVIEW; RICKETS; SEXUAL SELECTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN CANCER; SKIN COLOR; SKIN PIGMENTATION; SOLAR RADIATION; SPINAL DYSRAPHISM; STOP CODON; ULTRAVIOLET RADIATION; VITAMIN D DEFICIENCY;

ASSOCIATION; DNA POLYMORPHISMS; FORENSIC DNA PHENOTYPING; HUMAN; PIGMENTATION; PREDICTION;

COLOR; DNA; HUMANS; PIGMENTATION; POLYMORPHISM, GENETIC;

EID: 84883270235     PISSN: 10849521     EISSN: 10963634     Source Type: Journal    
DOI: 10.1016/j.semcdb.2013.03.013     Document Type: Review

References (179)

1. Kaelin C.B., Candille S.I., Yu B., Jackson P., Thompson D.A., Nix M.A., et al. New ligands for melanocortin receptors. International Journal of Obesity (London) 2008, 32(Suppl. 7):S19-S27.
2. Barsh G.S. The genetics of pigmentation: from fancy genes to complex traits. Trends in Genetics 1996, 12:299-305.
3. Tsao H., Chin L., Garraway L.A., Fisher D.E. Melanoma: from mutations to medicine. Genes and Development 2012, 26:1131-1155.
4. Hearing V.J. Milestones in melanocytes/melanogenesis. Journal of Investigative Dermatology 2011, 131:E1.
5. Sturm R.A., Duffy D.L. Human pigmentation genes under environmental selection. Genome Biology 2012, 13:248.
6. Sturm R.A. Molecular genetics of human pigmentation diversity. Human Molecular Genetics 2009, 18:R9-R17.
7. Sturm R.A., Box N.F., Ramsay M. Human pigmentation genetics: the difference is only skin deep. Bioessays 1998, 20:712-721.
8. Kayser M., de Knijff P. Improving human forensics through advances in genetics, genomics and molecular biology. Nature Reviews Genetics 2011, 12:179-192.
9. Schneider M.R., Schmidt-Ullrich R., Paus R. The hair follicle as a dynamic miniorgan. Current Biology 2009, 19:R132-R142.
10. Rees J.L., Harding R.M. Understanding the evolution of human pigmentation: recent contributions from population genetics. Journal of Investigative Dermatology 2012, 132:846-853.
11. Quillen E.E., Shriver M.D. Unpacking human evolution to find the genetic determinants of human skin pigmentation. Journal of Investigative Dermatology 2011, 131:E5-E7.
12. McEvoy B., Beleza S., Shriver M.D. The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model. Human Molecular Genetics 2006, 15(Spec. No. 2):R176-R181.
13. Soufir N., Grandchamp B., Basset-Seguin N. New trends in the susceptibility to melanoma. Cancer Treatment and Research 2009, 146:213-223.
14. Spritz R.A. The genetics of vitiligo. Journal of Investigative Dermatology 2011, 131:E18-E20.
15. Kayser M., Liu F., Janssens A.C., 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. American Journal of Human Genetics 2008, 82:411-423.
16. Han J., Kraft P., Nan H., Guo Q., Chen C., Qureshi A., et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genetics 2008, 4:e1000074.
17. Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T., Magnusson K.P., et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nature Genetics 2007, 39:1443-1452.
18. Liu F., Wollstein A., Hysi P.G., Ankra-Badu G.A., Spector T.D., Park D., et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genetics 2010, 6:e1000934.
19. Jacobs L.C., Wollstein A., Lao O., Hofman A., Klaver C.C., Uitterlinden A.G., et al. Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Human Genetics 2012, 132:147-158.
20. Parra E.J. Human pigmentation variation: evolution, genetic basis, and implications for public health. American Journal of Physical Anthropology 2007, (Suppl. 45):85-105.
21. Niggemann B., Weinbauer G., Vogel F., Korte R. A standardized approach for iris color determination. International Journal of Toxicology 2003, 22:49-51.
22. Yamamoto T., Takiwaki H., Arase S., Ohshima H. Derivation and clinical application of special imaging by means of digital cameras and Image J freeware for quantification of erythema and pigmentation. Skin Research and Technology 2008, 14:26-34.
23. Robertson A.R. CIE guidelines for coordinated research on colour difference evaluation. Color Research and Application 1978, 3:149-151.
24. Guridi M., Soret B., Alfonso L., Arana A. Single nucleotide polymorphisms in the melanocortin 1 receptor gene are linked with lightness of fibre colour in Peruvian Alpaca (Vicugna pacos). Animal Genetics 2011, 42:679-682.
25. Ponsonby A.L., Cameron F., Saffery R., Pezic A., Wong N., Craig J., et al. A case-sibling assessment of the association between skin pigmentation and other vitamin D-related factors and type 1 diabetes mellitus. Photochemistry and Photobiology 2009, 85:1267-1270.
26. Landi M.T., Kanetsky P.A., Tsang S., Gold B., Munroe D., Rebbeck T., et al. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. Journal of the National Cancer Institute 2005, 97:998-1007.
27. Weatherall I.L., Coombs B.D. Skin color measurements in terms of CIELAB color space values. Journal of Investigative Dermatology 1992, 99:468-473.
28. Murray F.G. Pigmentation, sunlight, and nutritional disease. American Anthropologist 1934, 36:438-445.
29. Loomis W.F. Skin-pigment regulation of vitamin-D biosynthesis in man. Science 1967, 157:501-506.
30. Jablonski N.G., Chaplin G. The evolution of human skin coloration. Journal of Human Evolution 2000, 39:57-106.
31. Jablonski N.G., Chaplin G. Colloquium paper: human skin pigmentation as an adaptation to UV radiation. Proceedings of the National Academy of Sciences of the United States of America 2010, 107(Suppl. 2):8962-8968.
32. Robins A.H. Biological Perspectives on Human Pigmentation 1991, Cambridge University Press, Cambridge.
33. Pitkin R.M. Folate and neural tube defects. American Journal of Clinical Nutrition 2007, 85:285S-288S.
34. Rijken F., Bruijnzeel P.L., van Weelden H., Kiekens R.C. Responses of black and white skin to solar-simulating radiation: differences in DNA photodamage, infiltrating neutrophils, proteolytic enzymes induced, keratinocyte activation, and IL-10 expression. Journal of Investigative Dermatology 2004, 122:1448-1455.
35. Khan R., Khan B.S. Diet, disease and pigment variation in humans. Medical Hypotheses 2010, 75:363-367.
36. Gibbons A. American Association of Physical Anthropologists meeting. European skin turned pale only recently, gene suggests. Science 2007, 316:364.
37. Lao O., de Gruijter J.M., van Duijn K., Navarro A., Kayser M. Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Annals of Human Genetics 2007, 71:354-369.
38. Myles S., Somel M., Tang K., Kelso J., Stoneking M. Identifying genes underlying skin pigmentation differences among human populations. Human Genetics 2007, 120:613-621.
39. Darwin C. The Decent of Man, and Selection in Relation to Sex 1871, John Murray, London.
40. Amundsen T., Forsgren E. Male mate choice selects for female coloration in a fish. Proceedings of the National Academy of Sciences of the United States of America 2001, 98:13155-13160.
41. Gould J.L., Elliott S.L., Masters C.M., Mukerji J. Female preferences in a fish genus without female mate choice. Current Biology 1999, 9:497-500.
42. Beleza S., Santos A.M., McEvoy B., Alves I., Martinho C., Cameron E., et al. The timing of pigmentation lightening in Europeans. Molecular Biology and Evolution 2013, 30:24-35.
43. Diepgen T.L., Mahler V. The epidemiology of skin cancer. British Journal of Dermatology 2002, 146(Suppl. 61):1-6.
44. Berwick M., Wiggins C. The current epidemiology of cutaneous malignant melanoma. Frontiers in Bioscience 2006, 11:1244-1254.
45. Roewert-Huber J., Lange-Asschenfeldt B., Stockfleth E., Kerl H. Epidemiology and aetiology of basal cell carcinoma. British Journal of Dermatology 2007, 157(Suppl. 2):47-51.
46. Sturm R.A., Teasdale R.D., Box N.F. Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 2001, 277:49-62.
47. Kanetsky P.A., Panossian S., Elder D.E., Guerry D., Ming M.E., Schuchter L., et al. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes. Cancer 2010, 116:2416-2428.
48. Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T., Jakobsdottir M., et al. Two newly identified genetic determinants of pigmentation in Europeans. Nature Genetics 2008, 40:835-837.
49. Sturm R.A., Duffy D.L., Zhao Z.Z., Leite F.P., Stark M.S., Hayward N.K., et al. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. American Journal of Human Genetics 2008, 82:424-431.
50. Veierod M.B., Adami H.O., Lund E., Armstrong B.K., Weiderpass E. Sun and solarium exposure and melanoma risk: effects of age, pigmentary characteristics, and nevi. Cancer Epidemiology, Biomarkers and Prevention 2010, 19:111-120.
51. Raimondi S., Sera F., Gandini S., Iodice S., Caini S., Maisonneuve P., et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. International Journal of Cancer 2008, 122:2753-2760.
52. Fernandez L.P., Milne R.L., Pita G., Floristan U., Sendagorta E., Feito M., et al. Pigmentation-related genes and their implication in malignant melanoma susceptibility. Experimental Dermatology 2009, 18:634-642.
53. Duffy D.L., Zhao Z.Z., Sturm R.A., Hayward N.K., Martin N.G., Montgomery G.W. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Journal of Investigative Dermatology 2010, 130:520-528.
54. Nan H., Kraft P., Hunter D.J., Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. International Journal of Cancer 2009, 125:909-917.
55. Gudbjartsson D.F., Sulem P., Stacey S.N., Goldstein A.M., Rafnar T., Sigurgeirsson B., et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nature Genetics 2008, 40:886-891.
56. Bastiaens M.T., ter Huurne J.A., Kielich C., Gruis N.A., Westendorp R.G., Vermeer B.J., et al. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. American Journal of Human Genetics 2001, 68:884-894.
57. Han J., Kraft P., Colditz G.A., Wong J., Hunter D.J. Melanocortin 1 receptor variants and skin cancer risk. International Journal of Cancer 2006, 119:1976-1984.
58. van der Velden P.A., Sandkuijl L.A., Bergman W., Pavel S., van Mourik L., Frants R.R., et al. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. American Journal of Human Genetics 2001, 69:774-779.
59. Gruber F., Kastelan M., Brajac I., Saftic M., Peharda V., Cabrijan L., et al. Molecular and genetic mechanisms in melanoma. Collegium Antropologicum 2008, 32(Suppl. 2):147-152.
60. Karim-Kos H.E., de Vries E., Soerjomataram I., Lemmens V., Siesling S., Coebergh J.W. Recent trends of cancer in Europe: a combined approach of incidence, survival and mortality for 17 cancer sites since the 1990. European Journal of Cancer 2008, 44:1345-1389.
61. Little J.W. Melanoma: etiology, treatment, and dental implications. General Dentistry 2006, 54:61-66. [quiz, 7].
62. Cannon-Albright L.A., Bishop D.T., Goldgar C., Skolnick M.H. Genetic predisposition to cancer. Important Adv Oncol 1991, 39-55.
63. Titus-Ernstoff L., Perry A.E., Spencer S.K., Gibson J.J., Cole B.F., Ernstoff M.S. Pigmentary characteristics and moles in relation to melanoma risk. International Journal of Cancer 2005, 116:144-149.
64. Bataille V., Bishop J.A., Sasieni P., Swerdlow A.J., Pinney E., Griffiths K., et al. Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study. British Journal of Cancer 1996, 73:1605-1611.
65. Chang Y.M., Newton-Bishop J.A., Bishop D.T., Armstrong B.K., Bataille V., Bergman W., et al. A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes. International Journal of Cancer 2009, 124:420-428.
66. Hollenbeak C.S., Todd M.M., Billingsley E.M., Harper G., Dyer A.M., Lengerich E.J. Increased incidence of melanoma in renal transplantation recipients. Cancer 2005, 104:1962-1967.
67. Hussussian C.J., Struewing J.P., Goldstein A.M., Higgins P.A., Ally D.S., Sheahan M.D., et al. Germline p16 mutations in familial melanoma. Nature Genetics 1994, 8:15-21.
68. Box N.F., Duffy D.L., Chen W., Stark M., Martin N.G., Sturm R.A., et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. American Journal of Human Genetics 2001, 69:765-773.
69. Wolfel T., Hauer M., Schneider J., Serrano M., Wolfel C., Klehmann-Hieb E., et al. A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. Science 1995, 269:1281-1284.
70. Landi M.T., Bauer J., Pfeiffer R.M., Elder D.E., Hulley B., Minghetti P., et al. MC1R germline variants confer risk for BRAF-mutant melanoma. Science 2006, 313:521-522.
71. Brown K.M., Macgregor S., Montgomery G.W., Craig D.W., Zhao Z.Z., Iyadurai K., et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nature Genetics 2008, 40:838-840.
72. Duffy D.L., Iles M.M., Glass D., Zhu G., Barrett J.H., Hoiom V., et al. IRF4 variants have age-specific effects on nevus count and predispose to melanoma. American Journal of Human Genetics 2010, 87:6-16.
73. Amos C.I., Wang L.E., Lee J.E., Gershenwald J.E., Chen W.V., Fang S., et al. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Human Molecular Genetics 2011, 20:5012-5023.
74. Mocellin S., Vitamin Nitti D. D receptor polymorphisms and the risk of cutaneous melanoma: a systematic review and meta-analysis. Cancer 2008, 113:2398-2407.
75. Barrett J.H., Iles M.M., Harland M., Taylor J.C., Aitken J.F., Andresen P.A., et al. Genome-wide association study identifies three new melanoma susceptibility loci. Nature Genetics 2011, 43:1108-1113.
76. Macgregor S., Montgomery G.W., Liu J.Z., Zhao Z.Z., Henders A.K., Stark M., et al. Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature Genetics 2011, 43:1114-1118.
77. Nan H., Xu M., Zhang J., Zhang M., Kraft P., Qureshi A.A., et al. Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. Human Molecular Genetics 2011, 20:2673-2679.
78. Falchi M., Bataille V., Hayward N.K., Duffy D.L., Bishop J.A., Pastinen T., et al. Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genetics 2009, 41:915-919.
79. Bishop D.T., Demenais F., Iles M.M., Harland M., Taylor J.C., Corda E., et al. Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics 2009, 41:920-925.
80. Mitra D., Luo X., Morgan A., Wang J., Hoang M.P., Lo J., et al. An ultraviolet-radiation-independent pathway to melanoma carcinogenesis in the red hair/fair skin background. Nature 2012, 491:449-453.
81. Park H.Y., Kosmadaki M., Yaar M., Gilchrest B.A. Cellular mechanisms regulating human melanogenesis. Cellular and Molecular Life Sciences 2009, 66:1493-1506.
82. Lango Allen H., Estrada K., Lettre G., Berndt S.I., Weedon M.N., Rivadeneira F., et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010, 467:832-838.
83. Kenny E.E., Timpson N.J., Sikora M., Yee M.C., Moreno-Estrada A., Eng C., et al. Melanesian blond hair is caused by an amino acid change in TYRP1. Science 2012, 336:554.
84. Visser M., Kayser M., Palstra R.J. HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Research 2012, 22:446-455.
85. Brilliant M.H. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Research 2001, 14:86-93.
86. Duffy D.L., Montgomery G.W., Chen W., Zhao Z.Z., Le L., James M.R., et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics 2007, 80:241-252.
87. Zhu G., Evans D.M., Duffy D.L., Montgomery G.W., Medland S.E., Gillespie N.A., et al. A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q. Twin Research 2004, 7:197-210.
88. Eiberg H., Troelsen J., Nielsen M., Mikkelsen A., Mengel-From J., Kjaer K.W., et al. 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. Human Genetics 2008, 123:177-187.
89. Cook A.L., Chen W., Thurber A.E., Smit D.J., Smith A.G., Bladen T.G., et al. Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. Journal of Investigative Dermatology 2009, 129:392-405.
90. Sturm R.A., Larsson M. Genetics of human iris colour and patterns. Pigment Cell and Melanoma Research 2009, 22:544-562.
91. Liu F., van Duijn K., Vingerling J.R., Hofman A., Uitterlinden A.G., Janssens A.C., et al. Eye color and the prediction of complex phenotypes from genotypes. Current Biology 2009, 19:R192-R193.
92. Spichenok O., Budimlija Z.M., Mitchell A.A., Jenny A., Kovacevic L., Marjanovic D., et al. Prediction of eye and skin color in diverse populations using seven SNPs. Forensic Science International: Genetics 2011, 5:472-478.
93. 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 Science International: Genetics 2013, 7:28-40.
94. Branicki W., Liu F., van Duijn K., Draus-Barini J., Pospiech E., Walsh S., et al. Model-based prediction of human hair color using DNA variants. Human Genetics 2011, 129:443-454.
95. Branicki W., Brudnik U., Wojas-Pelc A. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Annals of Human Genetics 2009, 73:160-170.
96. Pospiech E., Draus-Barini J., Kupiec T., Wojas-Pelc A., Branicki W. Gene-gene interactions contribute to eye colour variation in humans. Journal of Human Genetics 2011, 56:447-455.
97. Valverde P., Healy E., Jackson I., Rees J.L., Thody A.J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genetics 1995, 11:328-330.
98. Schaffer J.V., Bolognia J.L. The melanocortin-1 receptor: red hair and beyond. Archives of Dermatology 2001, 137:1477-1485.
99. Naysmith L., Waterston K., Ha T., Flanagan N., Bisset Y., Ray A., et al. Quantitative measures of the effect of the melanocortin 1 receptor on human pigmentary status. Journal of Investigative Dermatology 2004, 122:423-428.
100. Bastiaens M., ter Huurne J., Gruis N., Bergman W., Westendorp R., Vermeer B.J., et al. The melanocortin-1-receptor gene is the major freckle gene. Human Molecular Genetics 2001, 10:1701-1708.
101. Scott M.C., Wakamatsu K., Ito S., Kadekaro A.L., Kobayashi N., Groden J., et al. Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. Journal of Cell Science 2002, 115:2349-2355.
102. Strange R.C., Ramachandran S., Zeegers M.P., Emes R.D., Abraham R., Raveendran V., et al. The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation. Multiple Sclerosis 2010, 16:1109-1116.
103. Beaumont K.A., Newton R.A., Smit D.J., Leonard J.H., Stow J.L., Sturm R.A. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Human Molecular Genetics 2005, 14:2145-2154.
104. Valverde P., Healy E., Sikkink S., Haldane F., Thody A.J., Carothers A., et al. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Human Molecular Genetics 1996, 5:1663-1666.
105. Makova K., Norton H. Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. Peptides 2005, 26:1901-1908.
106. Rana B.K., Hewett-Emmett D., Jin L., Chang B.H., Sambuughin N., Lin M., et al. High polymorphism at the human melanocortin 1 receptor locus. Genetics 1999, 151:1547-1557.
107. Harding R.M., Healy E., Ray A.J., Ellis N.S., Flanagan N., Todd C., et al. Evidence for variable selective pressures at MC1R. American Journal of Human Genetics 2000, 66:1351-1361.
108. Nakayama K., Soemantri A., Jin F., Dashnyam B., Ohtsuka R., Duanchang P., et al. Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. Human Genetics 2006, 119:322-330.
109. Yao Y.G., Lu X.M., Luo H.R., Li W.H., Zhang Y.P. Gene admixture in the silk road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism. Genes & Genetic Systems 2000, 75:173-178.
110. Duffy D.L., Box N.F., Chen W., Palmer J.S., Montgomery G.W., James M.R., et al. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Human Molecular Genetics 2004, 13:447-461.
111. Rees J.L., Birch-Machin M., Flanagan N., Healy E., Phillips S., Todd C. Genetic studies of the human melanocortin-1 receptor. Annals of the New York Academy of Sciences 1999, 885:134-142.
112. Ringholm A., Klovins J., Rudzish R., Phillips S., Rees J.L., Schioth H.B. Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. Journal of Investigative Dermatology 2004, 123:917-923.
113. Jimenez-Cervantes C., Germer S., Gonzalez P., Sanchez J., Sanchez C.O., Garcia-Borron J.C. Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor. FEBS Letters 2001, 508:44-48.
114. Schioth H.B., Phillips S.R., Rudzish R., Birch-Machin M.A., Wikberg J.E., Rees J.L. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochemical and Biophysical Research Communications 1999, 260:488-491.
115. Sturm R.A., Duffy D.L., Box N.F., Newton R.A., Shepherd A.G., Chen W., et al. Genetic association and cellular function of MC1R variant alleles in human pigmentation. Annals of the New York Academy of Sciences 2003, 994:348-358.
116. Liu F., Struchalin M.V., van Duijn K., Hofman A., Uitterlinden A.G., van Duijn C., et al. Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example. PLoS ONE 2011, 6:e28145.
117. Box N.F., Wyeth J.R., O'Gorman L.E., Martin N.G., Sturm R.A. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Human Molecular Genetics 1997, 6:1891-1897.
118. Suzuki I., Tada A., Ollmann M.M., Barsh G.S., Im S., Lamoreux M.L., et al. Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin. Journal of Investigative Dermatology 1997, 108:838-842.
119. Kanetsky P.A., Swoyer J., Panossian S., Holmes R., Guerry D., Rebbeck T.R. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. American Journal of Human Genetics 2002, 70:770-775.
120. Bonilla C., Boxill L.A., Donald S.A., Williams T., Sylvester N., Parra E.J., et al. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Human Genetics 2005, 116:402-406.
121. Kwon B.S., Haq A.K., Pomerantz S.H., Halaban R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proceedings of the National Academy of Sciences of the United States of America 1987, 84:7473-7477.
122. Hearing V.J., Tsukamoto K. Enzymatic control of pigmentation in mammals. FASEB Journal 1991, 5:2902-2909.
123. Cooksey C.J., Garratt P.J., Land E.J., Pavel S., Ramsden C.A., Riley P.A., et al. Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. Journal of Biological Chemistry 1997, 272:26226-26235.
124. Ray K., Chaki M., Sengupta M. Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Progress in Retinal and Eye Research 2007, 26:323-358.
125. Shriver M.D., Parra E.J., Dios S., Bonilla C., Norton H., Jovel C., et al. Skin pigmentation, biogeographical ancestry and admixture mapping. Human Genetics 2003, 112:387-399.
126. Stokowski R.P., Pant P.V., Dadd T., Fereday A., Hinds D.A., Jarman C., et al. A genomewide association study of skin pigmentation in a South Asian population. American Journal of Human Genetics 2007, 81:1119-1132.
127. Jin Y., Birlea S.A., Fain P.R., Ferrara T.M., Ben S., Riccardi S.L., et al. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nature Genetics 2012, 44:676-680.
128. Esposito R., D'Aniello S., Squarzoni P., Pezzotti M.R., Ristoratore F., Spagnuolo A. New insights into the evolution of metazoan tyrosinase gene family. PLoS ONE 2012, 7:e35731.
129. Frudakis T., Thomas M., Gaskin Z., Venkateswarlu K., Chandra K.S., Ginjupalli S., et al. Sequences associated with human iris pigmentation. Genetics 2003, 165:2071-2083.
130. Commo S., Wakamatsu K., Lozano I., Panhard S., Loussouarn G., Bernard B.A., et al. Age-dependent changes in eumelanin composition in hairs of various ethnic origins. International Journal of Cosmetic Science 2012, 34:102-107.
131. Alonso S., Izagirre N., Smith-Zubiaga I., Gardeazabal J., Diaz-Ramon J.L., Diaz-Perez J.L., et al. Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans. BMC Evolutionary Biology 2008, 8:74.
132. Edwards M., Bigham A., Tan J., Li S., Gozdzik A., Ross K., et al. Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genetics 2010, 6:e1000867.
133. Lamason R.L., Mohideen M.A., Mest J.R., Wong A.C., Norton H.L., Aros M.C., et al. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science 2005, 310:1782-1786.
134. Dimisianos G., Stefanaki I., Nicolaou V., Sypsa V., Antoniou C., Poulou M., et al. A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects. Experimental Dermatology 2009, 18:175-177.
135. Norton H.L., Kittles R.A., Parra E., McKeigue P., Mao X.Y., Cheng K., et al. Genetic evidence for the convergent evolution of light skin in Europeans and east Asians. Molecular Biology and Evolution 2007, 24:710-722.
136. Fukamachi S., Shimada A., Shima A. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nature Genetics 2001, 28:381-385.
137. Newton J.M., Cohen-Barak O., Hagiwara N., Gardner J.M., Davisson M.T., King R.A., et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics 2001, 69:981-988.
138. Rundshagen U., Zuhlke C., Opitz S., Schwinger E., Kasmann-Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Human Mutation 2004, 23:106-110.
139. Inagaki K., Suzuki T., Shimizu H., Ishii N., Umezawa Y., Tada J., et al. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. American Journal of Human Genetics 2004, 74:466-471.
140. Graf J., Hodgson R., van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Human Mutation 2005, 25:278-284.
141. Soejima M., Koda Y. Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2. International Journal of Legal Medicine 2007, 121:36-39.
142. Branicki W., Brudnik U., Draus-Barini J., Kupiec T., Wojas-Pelc A. Association of the SLC45A2 gene with physiological human hair colour variation. Journal of Human Genetics 2008, 53:966-971.
143. Liu F., van Duijn K., Vingerling J.R., Hofman A., Uitterlinden A.G., Janssens A.C.J.W., et al. Eye color and the prediction of complex phenotypes from genotypes. Current Biology 2009, 19:R192-R193.
144. Soejima M., Tachida H., Ishida T., Sano A., Koda Y. Evidence for recent positive selection at the human AIM1 locus in a European population. Molecular Biology and Evolution 2006, 23:179-188.
145. Grossman A., Mittrucker H.W., Nicholl J., Suzuki A., Chung S., Antonio L., et al. Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25. Genomics 1996, 37:229-233.
146. Gualco G., Weiss L.M., Bacchi C.E. MUM1/IRF4: a review. Applied Immunohistochemistry and Molecular Morphology 2010, 18:301-310.
147. Eriksson N., Macpherson J.M., Tung J.Y., Hon L.S., Naughton B., Saxonov S., et al. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genetics 2010, 6:e1000993.
148. Nan H., Kraft P., Qureshi A.A., Guo Q., Chen C., Hankinson S.E., et al. Genome-wide association study of tanning phenotype in a population of European ancestry. Journal of Investigative Dermatology 2009, 129:2250-2257.
149. Moskvina V., Smith M., Ivanov D., Blackwood D., Stclair D., Hultman C., et al. Genetic differences between five European populations. Human Heredity 2010, 70:141-149.
150. Walsh S., Liu F., Ballantyne K.N., van Oven M., Lao O., Kayser M. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Science International: Genetics 2011, 5:170-180.
151. Cario-Andre M., Pain C., Gauthier Y., Casoli V., Taieb A. In vivo and in vitro evidence of dermal fibroblasts influence on human epidermal pigmentation. Pigment Cell Research 2006, 19:434-442.
152. Amyere M., Vogt T., Hoo J., Brandrup F., Bygum A., Boon L., et al. KITLG mutations cause familial progressive hyper- and hypopigmentation. Journal of Investigative Dermatology 2011, 131:1234-1239.
153. Wang X.P., Liu Y., Wang J.M., Xiao S.X. Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. Journal of Dermatology 2010, 37:1051-1052.
154. Mengel-From J., Wong T.H., Morling N., Rees J.L., Jackson I.J. Genetic determinants of hair and eye colours in the Scottish and Danish populations. BMC Genetics 2009, 10:88.
155. Kaplan J., De Domenico I., Ward D.M. Chediak-Higashi syndrome. Current Opinion in Hematology 2008, 15:22-29.
156. Trantow C.M., Cuffy T.L., Fingert J.H., Kuehn M.H., Anderson M.G. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Investigative Ophthalmology and Visual Science 2011, 52:237-248.
157. Gutierrez-Gil B., Wiener P., Williams J.L. Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-Backcross Charolais×Holstein population. BMC Genetics 2007, 8:56.
158. Romano R.A., Li H., Tummala R., Maul R., Sinha S. Identification of Basonuclin2, a DNA-binding zinc-finger protein expressed in germ tissues and skin keratinocytes. Genomics 2004, 83:821-833.
159. Lang M.R., Patterson L.B., Gordon T.N., Johnson S.L., Parichy D.M. Basonuclin-2 requirements for zebrafish adult pigment pattern development and female fertility. PLoS Genetics 2009, 5:e1000744.
160. Smyth I.M., Wilming L., Lee A.W., Taylor M.S., Gautier P., Barlow K., et al. Genomic anatomy of the Tyrp1 (brown) deletion complex. Proceedings of the National Academy of Sciences of the United States of America 2006, 103:3704-3709.
161. Sturm R.A. Human 'coat colour' genetics. Pigment Cell and Melanoma Research 2008, 21:115-116.
162. Larsson M., Duffy D.L., Zhu G., Liu J.Z., Macgregor S., McRae A.F., et al. GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. American Journal of Human Genetics 2011, 89:334-343.
163. Mercke Odeberg J., Andrade J., Holmberg K., Hoglund P., Malmqvist U., Odeberg J. UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females. European Journal of Clinical Pharmacology 2006, 62:829-837.
164. Watson K.J., Gollan J.L. Gilbert's syndrome. Baillieres Clinical Gastroenterology 1989, 3:337-355.
165. Kingsmore S.F., Lindquist I.E., Mudge J., Gessler D.D., Beavis W.D. Genome-wide association studies: progress and potential for drug discovery and development. Nature Reviews Drug Discovery 2008, 7:221-230.
166. Kayser M., Schneider P.M. DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Science International: Genetics 2009, 3:154-161.
167. Walsh S., Liu F., Wollstein A., Kovatsi L., Ralf A., Kosiniak-Kamysz A., et al. The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. Forensic Science International: Genetics 2013, 7:98-115.
168. Walsh S., Wollstein A., Liu F., Chakravarthy U., Rahu M., Seland J.H., et al. DNA-based eye colour prediction across Europe with the IrisPlex system. Forensic Science International: Genetics 2012, 6:330-340.
169. Mengel-From J., Borsting C., Sanchez J.J., Eiberg H., Morling N. Human eye colour and HERC2, OCA2 and MATP. Forensic Science International: Genetics 2010, 4:323-328.
170. Valenzuela R.K., Henderson M.S., Walsh M.H., Garrison N.A., Kelch J.T., Cohen-Barak O., et al. Predicting phenotype from genotype: normal pigmentation. Journal of Forensic Sciences 2010, 55:315-322.
171. Pneuman A., Budimlija Z.M., Caragine T., Prinz M., Wurmbach E. Verification of eye and skin color predictors in various populations. Legal Medicine (Tokyo) 2012, 14:78-83.
172. Walsh S., Lindenbergh A., Zuniga S.B., Sijen T., de Knijff P., Kayser M., et al. Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence. Forensic Science International: Genetics 2011, 5:464-471.
173. Draus-Barini J., Walsh S., Pośpiech E., Kupiec T., Głab H., Branicki W., et al. Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains. Investigative Genetics 2013, 4:3. 10.1186/2041-2223-4-3.
174. Rees J.L. Genetics of hair and skin color. Annual Review of Genetics 2003, 37:67-90.
175. Schouwey K., Beermann F. The Notch pathway: hair graying and pigment cell homeostasis. Histology and Histopathology 2008, 23:609-619.
176. Takeda K., Takahashi N.H., Shibahara S. Neuroendocrine functions of melanocytes: beyond the skin-deep melanin maker. Tohoku Journal of Experimental Medicine 2007, 211:201-221.
177. Rosengren Pielberg G., Golovko A., Sundstrom E., Curik I., Lennartsson J., Seltenhammer M.H., et al. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nature Genetics 2008, 40:1004-1009.
178. McDonough P.H., Schwartz R.A. Premature hair graying. Cutis 2012, 89:161-165.
179. Zubakov D., Liu F., van Zelm M.C., Vermeulen J., Oostra B.A., van Duijn C.M., et al. Estimating human age from T-cell DNA rearrangements. Current Biology 2010, 20:R970-R971.