Genetics of pigmentation in skin cancer — A review

Mutation Research/Reviews in Mutation Research - Tập 705 - Trang 141-153 - 2010
Dominique Scherer1, Rajiv Kumar1
1Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Im Neuenheimer Feld 580, D-69120 Heidelberg, Germany

Tài liệu tham khảo

Diepgen, 2002, The epidemiology of skin cancer, Br. J. Dermatol., 146, 1, 10.1046/j.1365-2133.146.s61.2.x Berwick, 2006, The current epidemiology of cutaneous malignant melanoma, Front Biosci., 11, 1244, 10.2741/1877 Roewert-Huber, 2007, Epidemiology and aetiology of basal cell carcinoma, Br. J. Dermatol., 157, 47, 10.1111/j.1365-2133.2007.08273.x Rees, 2003, Genetics of hair and skin color, Annu. Rev. Genet., 37, 67, 10.1146/annurev.genet.37.110801.143233 Kanetsky, 2010, Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?, Cancer, 116, 2416 Sulem, 2008, Two newly identified genetic determinants of pigmentation in Europeans, Nat. Genet., 40, 835, 10.1038/ng.160 Sulem, 2007, Genetic determinants of hair, eye and skin pigmentation in Europeans, Nat. Genet., 39, 1443, 10.1038/ng.2007.13 Han, 2008, A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation, PLoS Genet., 4, e1000074, 10.1371/journal.pgen.1000074 Sturm, 2001, Human pigmentation genes: identification, structure and consequences of polymorphic variation, Gene, 277, 49, 10.1016/S0378-1119(01)00694-1 Sturm, 2008, 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., 82, 424, 10.1016/j.ajhg.2007.11.005 Veierod, 2010, Sun and solarium exposure and melanoma risk: effects of age, pigmentary characteristics, and nevi, Cancer Epidemiol. Biomarkers Prev., 19, 111, 10.1158/1055-9965.EPI-09-0567 Raimondi, 2008, MC1R variants, melanoma and red hair color phenotype: a meta-analysis, Int. J. Cancer, 122, 2753, 10.1002/ijc.23396 Fernandez, 2009, Pigmentation-related genes and their implication in malignant melanoma susceptibility, Exp. Dermatol., 18, 634, 10.1111/j.1600-0625.2009.00846.x Duffy, 2010, Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma, J. Invest. Dermatol., 130, 520, 10.1038/jid.2009.258 Gudbjartsson, 2008, ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma, Nat. Genet., 40, 886, 10.1038/ng.161 Nan, 2009, Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians, Int. J. Cancer, 129, 2250 Han, 2006, Melanocortin 1 receptor variants and skin cancer risk, Int. J. Cancer, 119, 1976, 10.1002/ijc.22074 van der Velden, 2001, Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma, Am. J. Hum. Genet., 69, 774, 10.1086/323411 Fuchs, 2002, Getting under the skin of epidermal morphogenesis, Nat. Rev. Genet., 3, 199, 10.1038/nrg758 Stroud, 2008, Vitamin D – a review, Aust. Fam. Physician, 37, 1002 Kupper, 2004, Immune surveillance in the skin: mechanisms and clinical consequences, Nat. Rev. Immunol., 4, 211, 10.1038/nri1310 Becker, 2009, Merkel cell carcinoma, Cell. Mol. Life Sci., 66, 1, 10.1007/s00018-008-8483-6 Buitrago, 2008, Sebaceous carcinoma: the great masquerader: emerging concepts in diagnosis and treatment, Dermatol. Ther., 21, 459, 10.1111/j.1529-8019.2008.00247.x Armstrong, 2001, The epidemiology of UV induced skin cancer, J. Photochem. Photobiol. B, 63, 8, 10.1016/S1011-1344(01)00198-1 Maddodi, 2008, Role of UV in cutaneous melanoma, Photochem. Photobiol., 84, 528, 10.1111/j.1751-1097.2007.00283.x Kumar, 2007, Molecular epidemiology of skin cancer, 225 Melnikova, 2005, Cellular and molecular events leading to the development of skin cancer, Mutat. Res., 571, 91, 10.1016/j.mrfmmm.2004.11.015 Murphy, 2009, Ultraviolet radiation and immunosuppression, Br. J. Dermatol., 161, 90, 10.1111/j.1365-2133.2009.09455.x Welsh, 2008, A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene–environment interactions, Carcinogenesis, 29, 1950, 10.1093/carcin/bgn160 Karagas, 2002, Use of tanning devices and risk of basal cell and squamous cell skin cancers, J. Natl. Cancer Inst., 94, 224, 10.1093/jnci/94.3.224 Ting, 2007, Tanning bed exposure increases the risk of malignant melanoma, Int. J. Dermatol., 46, 1253, 10.1111/j.1365-4632.2007.03408.x Clough-Gorr, 2008, Exposure to sunlamps, tanning beds, and melanoma risk, Cancer Causes Control, 19, 659, 10.1007/s10552-008-9129-6 Patel, 2009, Treatments for psoriasis and the risk of malignancy, J. Am. Acad. Dermatol., 60, 1001, 10.1016/j.jaad.2008.12.031 Ahsan, 2007, Arsenic metabolism, genetic susceptibility, and risk of premalignant skin lesions in Bangladesh, Cancer Epidemiol. Biomarkers Prev., 16, 1270, 10.1158/1055-9965.EPI-06-0676 Guo, 2006, Association between multi-level inorganic arsenic exposure from drinking water and skin lesions in China, Int. J. Environ. Res. Public Health, 3, 262, 10.3390/ijerph2006030031 Euvrard, 2003, Skin cancers after organ transplantation, N. Engl. J. Med., 348, 1681, 10.1056/NEJMra022137 Engels, 2009, Non-AIDS-defining malignancies in HIV-infected persons: etiologic puzzles, epidemiologic perils, prevention opportunities, AIDS, 23, 875, 10.1097/QAD.0b013e328329216a Feng, 2008, Clonal integration of a polyomavirus in human Merkel cell carcinoma, Science, 319, 1096, 10.1126/science.1152586 Dubina, 2009, Viral-associated nonmelanoma skin cancers: a review, Am. J. Dermatopathol., 31, 561, 10.1097/DAD.0b013e3181a58234 Brenner, 2008, The protective role of melanin against UV damage in human skin, Photochem. Photobiol., 84, 539, 10.1111/j.1751-1097.2007.00226.x Barsh, 2003, What controls variation in human skin color?, PLoS Biol., 1, E27, 10.1371/journal.pbio.0000027 Jablonski, 2000, The evolution of human skin coloration, J. Hum. Evol., 39, 57, 10.1006/jhev.2000.0403 Relethford, 1997, Hemispheric difference in human skin color, Am. J. Phys. Anthropol., 104, 449, 10.1002/(SICI)1096-8644(199712)104:4<449::AID-AJPA2>3.0.CO;2-N Astner, 2004, Skin phototypes 2003, J. Invest. Dermatol., 122, xxx, 10.1046/j.1523-1747.2003.22251.x Quevedo, 1975, Role of light in human skin color variation, Am. J. Phys. Anthropol., 43, 393, 10.1002/ajpa.1330430321 Costin, 2007, Human skin pigmentation: melanocytes modulate skin color in response to stress, FASEB J., 21, 976, 10.1096/fj.06-6649rev Levy, 2006, MITF: master regulator of melanocyte development and melanoma oncogene, Trends Mol. Med., 12, 406, 10.1016/j.molmed.2006.07.008 Lin, 2007, Melanocyte biology and skin pigmentation, Nature, 445, 843, 10.1038/nature05660 White, 2008, Melanocytes in development, regeneration, and cancer, Cell Stem Cell, 3, 242, 10.1016/j.stem.2008.08.005 Curtin, 2006, Somatic activation of KIT in distinct subtypes of melanoma, J. Clin. Oncol., 24, 4340, 10.1200/JCO.2006.06.2984 Garraway, 2005, Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma, Nature, 436, 117, 10.1038/nature03664 Nordlund, 2007, The melanocyte and the epidermal melanin unit: an expanded concept, Dermatol. Clin., 25, 271, 10.1016/j.det.2007.04.001 Sturm, 2006, A golden age of human pigmentation genetics, Trends Genet., 22, 464, 10.1016/j.tig.2006.06.010 Seiberg, 2000, The protease-activated receptor 2 regulates pigmentation via keratinocyte-melanocyte interactions, Exp. Cell Res., 254, 25, 10.1006/excr.1999.4692 Scott, 2002, Filopodia are conduits for melanosome transfer to keratinocytes, J. Cell Sci., 115, 1441, 10.1242/jcs.115.7.1441 S.K. Singh, R. Kurfurst, C. Nizard, S. Schnebert, E. Perrier and D.J. Tobin, Melanin transfer in human skin cells is mediated by filopodia – a model for homotypic and heterotypic lysosome-related organelle transfer, FASEB J., 24 (2010), doi:10.1096/fj.10-159046. Sturm, 1998, Human pigmentation genetics: the difference is only skin deep, Bioessays, 20, 712, 10.1002/(SICI)1521-1878(199809)20:9<712::AID-BIES4>3.0.CO;2-I Gilchrest, 1979, Effects of aging and chronic sun exposure on melanocytes in human skin, J. Invest. Dermatol., 73, 141, 10.1111/1523-1747.ep12581580 Simon, 2009, Current challenges in understanding melanogenesis: bridging chemistry, biological control, morphology, and function, Pigment Cell Melanoma Res., 22, 563, 10.1111/j.1755-148X.2009.00610.x Yamaguchi, 2007, The regulation of skin pigmentation, J. Biol. Chem., 282, 27557, 10.1074/jbc.R700026200 Ito, 2003, The IFPCS presidential lecture: a chemist's view of melanogenesis, Pigment Cell Res., 16, 230, 10.1034/j.1600-0749.2003.00037.x Cheli, 2009, {alpha}MSH and Cyclic AMP elevating agents control melanosome pH through a protein kinase A-independent mechanism, J. Biol. Chem., 284, 18699, 10.1074/jbc.M109.005819 Ancans, 2001, Melanosomal pH controls rate of melanogenesis, eumelanin/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells, Exp. Cell Res., 268, 26, 10.1006/excr.2001.5251 Garcia-Borron, 2005, Melanocortin-1 receptor structure and functional regulation, Pigment Cell Res., 18, 393 Barsh, 2000, Biochemical and genetic studies of pigment-type switching, Pigment Cell Res., 13, 48, 10.1034/j.1600-0749.13.s8.10.x Tsatmali, 2000, Skin POMC peptides: their actions at the human MC-1 receptor and roles in the tanning response, Pigment Cell Res., 13, 125, 10.1034/j.1600-0749.13.s8.22.x Cui, 2007, Central role of p53 in the suntan response and pathologic hyperpigmentation, Cell, 128, 853, 10.1016/j.cell.2006.12.045 Murase, 2009, The essential role of p53 in hyperpigmentation of the skin via regulation of paracrine melanogenic cytokine receptor signaling, J. Biol. Chem., 284, 4343, 10.1074/jbc.M805570200 Lamason, 2005, SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans, Science, 310, 1782, 10.1126/science.1116238 Norton, 2007, Genetic evidence for the convergent evolution of light skin in Europeans and East Asians, Mol. Biol. Evol., 24, 710, 10.1093/molbev/msl203 Bonilla, 2005, The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans, Hum. Genet., 116, 402, 10.1007/s00439-004-1251-2 Shriver, 2003, Skin pigmentation, biogeographical ancestry and admixture mapping, Hum. Genet., 112, 387, 10.1007/s00439-002-0896-y Sturm, 2009, Molecular genetics of human pigmentation diversity, Hum. Mol. Genet., 18, R9, 10.1093/hmg/ddp003 Liboutet, 2006, MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas, J. Invest. Dermatol., 126, 1510, 10.1038/sj.jid.5700263 Fargnoli, 2006, Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case–control study, Melanoma Res., 16, 175, 10.1097/01.cmr.0000198454.11580.b5 Sturm, 2002, Skin colour and skin cancer – MC1R, the genetic link, Melanoma Res., 12, 405, 10.1097/00008390-200209000-00001 Abdel-Malek, 2008, The melanocortin 1 receptor and the UV response of human melanocytes – a shift in paradigm, Photochem. Photobiol., 84, 501, 10.1111/j.1751-1097.2008.00294.x Perez Oliva, 2009, Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients, Hum. Mutat., 30, 811, 10.1002/humu.20971 Gerstenblith, 2007, Comprehensive evaluation of allele frequency differences of MC1R variants across populations, Hum. Mutat., 28, 495, 10.1002/humu.20476 Beaumont, 2007, Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles, Hum. Mol. Genet., 16, 2249, 10.1093/hmg/ddm177 Duffy, 2004, Interactive effects of MC1R and OCA2 on melanoma risk phenotypes, Hum. Mol. Genet., 13, 447, 10.1093/hmg/ddh043 Beaumont, 2005, Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk, Hum. Mol. Genet., 14, 2145, 10.1093/hmg/ddi219 Ringholm, 2004, Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair, J. Invest. Dermatol., 123, 917, 10.1111/j.0022-202X.2004.23444.x Schioth, 1999, Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair, Biochem. Biophys. Res. Commun., 260, 488, 10.1006/bbrc.1999.0935 Beaumont, 2008, Red hair is the null phenotype of MC1R, Hum. Mutat., 29, E88, 10.1002/humu.20788 Robinson, 2010, protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo, J. Invest. Dermatol., 130, 1904, 10.1038/jid.2010.48 Matichard, 2004, Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure, J. Med. Genet., 41, e13, 10.1136/jmg.2003.011536 Bohm, 2005, alpha-Melanocyte-stimulating hormone protects from ultraviolet radiation-induced apoptosis and DNA damage, J. Biol. Chem., 280, 5795, 10.1074/jbc.M406334200 Hauser, 2006, Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes, Pigment Cell Res., 19, 303, 10.1111/j.1600-0749.2006.00315.x Dong, 2010, Melanocyte-stimulating hormone directly enhances UV-induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism, Cancer Res., 70, 3547, 10.1158/0008-5472.CAN-09-4596 Abdel-Malek, 2009, alpha-MSH tripeptide analogs activate the melanocortin 1 receptor and reduce UV-induced DNA damage in human melanocytes, Pigment Cell Melanoma Res., 22, 635, 10.1111/j.1755-148X.2009.00598.x Song, 2009, alpha-MSH activates immediate defense responses to UV-induced oxidative stress in human melanocytes, Pigment Cell Melanoma Res., 22, 809, 10.1111/j.1755-148X.2009.00615.x Stratigos, 2006, Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population, J. Invest. Dermatol., 126, 1842, 10.1038/sj.jid.5700292 Scherer, 2008, MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism, Int. J. Cancer, 122, 1787, 10.1002/ijc.23257 Scherer, 2009, Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations, Int. J. Cancer, 125, 1868, 10.1002/ijc.24548 Brudnik, 2009, The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population, Exp. Dermatol., 18, 167, 10.1111/j.1600-0625.2008.00760.x Hoiom, 2009, MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters, Pigment Cell Melanoma Res., 22, 196, 10.1111/j.1755-148X.2008.00526.x Eves, 2003, Neil Anti-inflammatory and anti-invasive effects of alpha-melanocyte-stimulating hormone in human melanoma cells, Br. J. Cancer, 89, 2004, 10.1038/sj.bjc.6601349 Getting, 2006, Targeting melanocortin receptors as potential novel therapeutics, Pharmacol. Ther., 111, 1, 10.1016/j.pharmthera.2005.06.022 Roberts, 2006, Quantitative analysis of MC1R gene expression in human skin cell cultures, Pigment Cell Res., 19, 76, 10.1111/j.1600-0749.2005.00286.x Roberts, 2007, MC1R expression in skin: is it confined to melanocytes?, J. Invest. Dermatol., 127, 2472, 10.1038/sj.jid.5700881 Mogil, 2005, Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans, J. Med. Genet., 42, 583, 10.1136/jmg.2004.027698 Goldstein, 2007, Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries, Int. J. Cancer, 121, 825, 10.1002/ijc.22712 Fargnoli, 2010, MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis, Eur. J. Cancer, 46, 1413, 10.1016/j.ejca.2010.01.027 Chaudru, 2009, Paillerets protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes, Fam. Cancer, 8, 371, 10.1007/s10689-009-9249-5 Figl, 2007, Multiple melanomas after treatment for Hodgkin lymphoma in a non-Dutch p16-Leiden mutation carrier with 2 MC1R high-risk variants, Arch. Dermatol., 143, 495, 10.1001/archderm.143.4.495 Box, 2001, MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations, Am. J. Hum. Genet., 69, 765, 10.1086/323412 Goldstein, 2005, Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations, Cancer Epidemiol. Biomarkers Prev., 14, 2208, 10.1158/1055-9965.EPI-05-0321A Pastorino, 2008, Scarra CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma, Pigment Cell Melanoma Res., 21, 700, 10.1111/j.1755-148X.2008.00512.x Landi, 2006, MC1R germline variants confer risk for BRAF-mutant melanoma, Science, 313, 521, 10.1126/science.1127515 Fargnoli, 2008, MC1R variants increase risk of melanomas harboring BRAF mutations, J. Invest. Dermatol., 128, 2485, 10.1038/jid.2008.67 Suzuki, 1997, Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin, J. Invest. Dermatol., 108, 838, 10.1111/1523-1747.ep12292572 Kanetsky, 2002, A polymorphism in the agouti signaling protein gene is associated with human pigmentation, Am. J. Hum. Genet., 70, 770, 10.1086/339076 Landi, 2005, MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population, J. Natl. Cancer Inst., 97, 998, 10.1093/jnci/dji176 Zeigler-Johnson, 2004, Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism, Pigment Cell Res., 17, 185, 10.1111/j.1600-0749.2004.00134.x Voisey, 2006, A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA, Pigment Cell Res., 19, 226, 10.1111/j.1600-0749.2006.00301.x Brown, 2008, Common sequence variants on 20q11.22 confer melanoma susceptibility, Nat. Genet., 40, 838, 10.1038/ng.163 Ancans, 2001, Melanosomal pH, pink locus protein and their roles in melanogenesis, J. Invest. Dermatol., 117, 158, 10.1046/j.0022-202x.2001.01397.x Smith, 2004, The relationship between Na(+)/H(+) exchanger expression and tyrosinase activity in human melanocytes, Exp. Cell Res., 298, 521, 10.1016/j.yexcr.2004.04.033 Watabe, 2004, Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity, J. Biol. Chem., 279, 7971, 10.1074/jbc.M309714200 Iozumi, 1993, Role of tyrosinase as the determinant of pigmentation in cultured human melanocytes, J. Invest. Dermatol., 100, 806, 10.1111/1523-1747.ep12476630 Oetting, 2000, The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): a model for understanding the molecular biology of melanin formation, Pigment Cell Res., 13, 320, 10.1034/j.1600-0749.2000.130503.x Frudakis, 2003, Sequences associated with human iris pigmentation, Genetics, 165, 2071, 10.1093/genetics/165.4.2071 Fernandez, 2008, SLC45A2: a novel malignant melanoma-associated gene, Hum. Mutat., 29, 1161, 10.1002/humu.20804 Duffy, 2007, A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation, Am. J. Hum. Genet., 80, 241, 10.1086/510885 Rebbeck, 2002, P gene as an inherited biomarker of human eye color, Cancer Epidemiol. Biomarkers Prev., 11, 782 Zhu, 2004, A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q, Twin Res., 7, 197, 10.1375/136905204323016186 Cook, 2009, Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci, J. Invest. Dermatol., 129, 392, 10.1038/jid.2008.211 Frudakis, 2007, Multilocus OCA2 genotypes specify human iris colors, Hum. Genet., 122, 311, 10.1007/s00439-007-0401-8 Edwards, 2010, Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation, PLoS Genet., 6, e1000867, 10.1371/journal.pgen.1000867 Jannot, 2005, Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma, Eur. J. Hum. Genet., 13, 913, 10.1038/sj.ejhg.5201415 Sturm, 2009, Genetics of human iris colour and patterns, Pigment Cell Melanoma Res., 22, 544, 10.1111/j.1755-148X.2009.00606.x Nicholls, 2001, Genome organization, function, and imprinting in Prader–Willi and Angelman syndromes, Annu. Rev. Genomics Hum. Genet., 2, 153, 10.1146/annurev.genom.2.1.153 Branicki, 2009, Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype, Ann. Hum. Genet., 73, 160, 10.1111/j.1469-1809.2009.00504.x Eiberg, 2008, 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, Hum. Genet., 123, 177, 10.1007/s00439-007-0460-x Kayser, 2008, Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene, Am. J. Hum. Genet., 82, 411, 10.1016/j.ajhg.2007.10.003 Ginger, 2008, SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium–calcium exchange activity that regulates human epidermal melanogenesis, J. Biol. Chem., 283, 5486, 10.1074/jbc.M707521200 Dimisianos, 2009, A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects, Exp. Dermatol., 18, 175, 10.1111/j.1600-0625.2008.00758.x Johansson, 2008, Identification of local selective sweeps in human populations since the exodus from Africa, Hereditas, 145, 126, 10.1111/j.0018-0661.2008.02054.x Graf, 2007, Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation, Hum. Mutat., 28, 710, 10.1002/humu.20504 Guedj, 2008, Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population, Hum. Mutat., 29, 1154, 10.1002/humu.20823 Stacey, 2008, Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits, Nat. Genet., 40, 1313, 10.1038/ng.234 Mengel-From, 2009, Genetic determinants of hair and eye colours in the Scottish and Danish populations, BMC Genet., 10, 88, 10.1186/1471-2156-10-88 Cuellar, 2009, Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers, Br. J. Dermatol., 160, 48, 10.1111/j.1365-2133.2008.08826.x Zalaudek, 2009, White” nevi and “red” melanomas: association with the RHC phenotype of the MC1R gene, J. Invest. Dermatol., 129, 1305, 10.1038/jid.2008.378 Lynde, 2010, Predictive testing of the melanocortin 1 receptor for skin cancer and photoaging, Skin Ther. Lett., 15, 5 Smith, 2007, Melanocortin 1 receptor (MC1R) genotype influences erythemal sensitivity to psoralen-ultraviolet A photochemotherapy, Br. J. Dermatol., 157, 1230, 10.1111/j.1365-2133.2007.08209.x Stern, 1994, The carcinogenic risk of treatments for severe psoriasis. Photochemotherapy follow-up study, Cancer, 73, 2759, 10.1002/1097-0142(19940601)73:11<2759::AID-CNCR2820731118>3.0.CO;2-C Stacey, 2009, New common variants affecting susceptibility to basal cell carcinoma, Nat. Genet., 41, 909, 10.1038/ng.412