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References

  • 1
    Dessinioti, C., K. Tzannis, V. Sypsa, V. Nikolaou, K. Kypreou, C. Antoniou, A. Katsambas and A. J. Stratigos (2011) Epidemiologic risk factors of basal cell carcinoma development and age of onset in a Southern European population from Greece. Exp. Dermatol. 20, 622626.
  • 2
    Bonilla, C., L. A. Boxill, S. A. Donald, T. Williams, N. Sylvester, E. J. Parra, S. Dios, H. L. Norton, M. D. Shriver and R. A. Kittles (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, 402406.
  • 3
    Fernandez, L. P., R. L. Milne, G. Pita, J. A. Avilés, P. Lázaro, J. Benítez and G. Ribas (2008) SLC45A2: A novel malignant melanoma-associated gene. Hum. Mutat. 29, 11611167.
  • 4
    Graf, J., R. Hodgson and A. van Daal (2005) Single nucleotide polymorphisms in the MATP gene is associated with normal human pigmentation variation. Hum. Mutat. 25, 278284.
  • 5
    Kanetsky, P. A., J. Swoyer, S. Panossian, R. Holmes, D. Guerry and T. R. Rebbeck (2002) A polymorphism in the agouti protein gene is associated with human pigmentation. Am. J. Hum. Genet. 70, 770775.
  • 6
    Nakayama, K., S. Fukamachi, H. Kimura, Y. Koda, A. Soemantri and T. Ishida (2002) Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. J. Hum. Genet. 47, 9294.
  • 7
    Rebbeck, T. R., P. A. Kanetsky, A. H. Walker, R. Holmes, A. C. Halpern, L. M. Schuchter, D. E. Elder and D. Guerry (2002) P gene as an inherited biomarker of human eye color. Cancer Epidemiol. Biomarkers Prev. 11, 782784.
  • 8
    Strum, R. A. (2006) A golden age of human pigmentation genetics. Trends Genet. 22, 464468.
  • 9
    Rees, J. L. (2000) The melanocortin 1 receptor (MC1R): More than just red hair. Pigment Cell Res. 13, 135140.
  • 10
    Rees, J. L. (2004) The genetics of sun sensitivity in humans. Am. J. Hum. Genet. 75, 739751.
  • 11
    Dessinioti, C., C. Antoniou, A. Katsambas and A. J. Stratigos (2010) Basal cell carcinoma: What’s new under the sun. Photochem. Photobiol. 86, 481491.
  • 12
    Gerstenblith, M. R., J. Shi and M. T. Landi (2010) Genome-wide association studies of pigmentation and skin cancer: A review and meta-analysis. Pigment Cell Melanoma Res. 23, 587606.
  • 13
    Sturm, R. A. (2009) Molecular genetics of human pigmentation diversity. Hum. Mol. Genet. 18(R1), R9R17.
  • 14
    Stratigos, A. J., G. Dimisianos, V. Nikolaou, M. Poulou, V. Sypsa, I. Stefanaki, O. Papadopoulos, D. Polydorou, M. Plaka, E. Christofidou, H. Gogas, D. Tsoutsos, O. Kastana, C. Antoniou, A. Hatzakis, E. Kanavakis and A. D. Katsambas (2006) Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk Southern European population. J. Invest. Dermatol. 126, 18421849.
  • 15
    Box, N. F., D. L. Duffy, R. E. Irving, A. Russell, W. Chen, L. R. Griffyths, P. G. Parsons, A. C. Green and R. A. Sturm (2001) Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J. Invest. Dermatol. 116, 224229.
  • 16
    Perez Oliva, A. B., L. P. Femendez, C. De Torre, C. Herráiz, J. A. Martínez-Escribano, J. Benítez, J. A. Lozano Teruel, J. C. García-Borrón, C. Jiménez-Cervantes and G. Ribas (2009) Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients. Hum. Mut. 30, 811822.
  • 17
    Bastiaens, M. T., J. A. ter Huurne, C. Kielich, N. A. Gruis, R. G. Westendorp, B. J. Vermeer, J. N. Bavinck; Leiden Skin Cancer Study Team (2001) Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am. J. Hum. Genet. 6, 884894.
  • 18
    Grimes, P., J. J. Nordlund, A. G. Pandya, S. Taylor, M. Rendon and J. P. Ortonne (2006) Increasing our understanding of pigmentary disorders. J. Am. Acad. Dermatol. 54, s255s261.
  • 19
    Gantz, I. and T. M. Fong (2003) The melanocortin system. Am. J. Physiol. Endocrinol. Metab. 284, 468474.
  • 20
    Dessinioti, C., A. J. Stratigos, D. Rigopoulos and A. Katsambas (2009) A review of genetic skin hypomelanoses: Lessons learned from the biology of melanocytes. Exp. Dermatol. 18, 741749.
  • 21
    Chhajlani, V. and J. E. S. Wikberg (1992) Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 309, 417420.
  • 22
    Mountjoy, K. G., L. S. Robbins, M. T. Mortrud and R. D. Cone (1992) The cloning of a family of genes that encode the melanocortin receptors. Science 257, 12481251.
  • 23
    Suzuki, I., R. Cone, S. Im, J. Nordlund and Z. A. Abdel-Malek (1996) Binding capacity and activation of the MC1 receptors by melanotropic hormones correlate directly with their mitogenic and melanogenic effects on human melanocytes. Endocrinology 137, 16271633.
  • 24
    Makova, K. and H. Norton (2005) Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. Peptides 26, 19011908.
  • 25
    Schallreuter, K. U., S. Kothari, B. Chavan and J. D. Spencer (2008) Regulation of melanogenesis-controversies and new concepts. Exp. Dermatol. 17, 395404.
  • 26
    Böhm, M., T. A. Luger, D. J. Tobin and J. C. García-Borrón (2006) Melanocortin receptor ligands: New horizons for skin biology and clinical dermatology. J. Invest. Dermatol. 126, 19661975.
  • 27
    Valverde, P., E. Healy, I. Jackson, J. L. Rees and A. J. Thody (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11, 328330.
  • 28
    Prusis, P., H. B. Schioth, R. Moceniece, P. Herzyk, M. Afshar, R. E. Hubbard and J. E. Wikberg (1997) Modeling of the three dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide. J. Mol. Graph Model 15, 307317.
  • 29
    Box, N. E., J. R. Wyeth, L. E. O’Gorman, N. G. Martin and R. A. Sturm (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Mol. Genet. 6, 18911897.
  • 30
    Koppula, S. V., L. S. Robbins, D. Lu, E. Baack, C. R. White Jr, N. A. Swanson and R. D. Cone (1997) Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects. Hum. Mut. 9, 3036.
  • 31
    Sturm, R. A., R. D. Teasdale and N. F. Box (2001) Human pigmentation genes identification, structure and consequences of polymorphic variation. Gene 277, 4962.
  • 32
    Sanchez-Laorden, B. L., J. Sanchez-Mas, E. Martinez-Alonso, J. A. Martínez-Menárguez, J. C. García-Borrón and C. Jiménez-Cervantes (2006) Dimerization of the human melanocortin 1 receptor: Functional consequences and dominant-negative effects. J. Invest. Dermatol. 126, 172181.
  • 33
    Beaumont, K. A., R. A. Newton, D. J. Smith, J. H. Leonard, J. L. Stow and R. A. Sturm (2005) Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum. Mol. Genet. 14, 145154.
  • 34
    Scott, M. C., K. Wakamatsu, S. Ito, A. L. Kadekaro, N. Kobayashi, J. Groden, R. Kavanagh, T. Takakuwa, V. Virador, V. J. Hearing and Z. A. Abdel-Malek (2002) Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J. Cell Sci. 115, 23492355.
  • 35
    Ringholm, A., J. Klovins, R. Rudzzish, S. Phillips, J. L. Rees and H. B. Schiöth (2004) Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J. Invest. Dermatol. 123, 917923.
  • 36
    Xu, X., M. Thornwall, L. G. Laudin and V. Chhajlani (1996) Val92Met variant of the melanocyte stimulating hormone receptor gene. Nat. Genet. 14, 384.
  • 37
    Sanchez-Laorden, B. L., C. Jimenez-Cervantes and J. C. Garcia-Borron (2007) Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alterations in variant alleles associated with red hair and skin cancer. J. Biol. Chem. 282, 32413251.
  • 38
    Newton, R. A., D. W. Roberts, J. H. Leonard and R. A. Sturm (2007) Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways. Peptides 28, 23872396.
  • 39
    Smith, R., E. Healy, S. Siddiqui, N. Flanagan, P. M. Steijlen, I. Rosdahl, J. P. Jacques, S. Rogers, R. Turner, I. J. Jackson, M. A. Birch-Machin and J. L. Rees (1998) Melanocortin 1 receptor variants in an Irish population. J. Invest. Dermatol. 111, 119122.
  • 40
    Healy, E., N. Flannagan, A. Ray, C. Todd, I. J. Jackson, J. N. Matthews, M. A. Birch-Machin and J. L. Rees (2000) Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair. Lancet 355, 10721073.
  • 41
    Sturm, R. A., D. L. Duffy, N. F. Box, R. A. Newton, A. G. Shepherd, W. Chen, L. H. Marks, J. H. Leonard and N. G. Martin (2003) Genetic association and cellular function of MC1R variant alleles in human pigmentation. Ann. N Y Acad. Sci. 994, 348358.
  • 42
    Raimondi, S., F. Sera, S. Gandini, S. Iodice, S. Caini, P. Maisonneuve and M. C. Fargnoli (2008) MC1R variants, melanoma and red hair color phenotype: A meta-analysis. Int. J. Cancer 122, 17531760.
  • 43
    Gerstenblith, M. R., A. M. Goldstein, M. C. Fargnoli, K. Peris and M. T. Landi (2007) Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum. Mutat. 28, 495505.
  • 44
    Flanagan, N., E. Healy, A. Ray, S. Philips, C. Todd, I. J. Jackson, M. A. Birch-Machin and J. L. Rees (2000) Pleiotropic effects of melanocortin 1 receptor (MC1R) gene on human pigmentation. Human Mol. Genet. 9, 25312537.
  • 45
    Duffy, D. L., N. F. Box, W. Chen, J. S. Palmer, G. W. Montgomery, M. R. James, N. K. Hayward, A. Green, N. G. Martin and R. A. Strum (2004) Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum. Mol. Gene 13, 447461.
  • 46
    Fargnoli, M. C., S. Chimenti, G. Keller, H. Hofler and K. Peris (2003) Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population. Hum. Mut. 21, 655.
  • 47
    Ellgaard, L. and A. Helenius (2003) Quality control in the endoplasmic reticulum. Nat. Rev. Mol. Cell Biol. 4, 181191.
  • 48
    Healy, E., S. A. Jordan, P. S. Budd, R. Suffolk, J. L. Rees and I. J. Jackson (2001) Functional variation of MC1R alleles from red-haired individuals. Hum. Mol. Genet. 10, 23972402.
  • 49
    Beaumont, K. A., S. N. Shekar, R. A. Newton, M. R. James, J. L. Stow, D. L. Duffy and R. A. Sturm (2007) Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum. Mol. Genet. 16, 22492260.
  • 50
    Robbins, L. S., J. H. Nadeau, K. R. Johnson, M. A. Kelly, L. Roselli-Rehfuss, E. Baack, K. G. Mountjoy and R. D. Cone (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72, 827834.
  • 51
    Kadekaro, A. L., S. Leachman, R. J. Kavanagh, V. Swope, P. Cassidy, D. Supp, M. Sartor, S. Schwemberger, G. Babcock, K. Wakamatsu, S. Ito, A. Koshoffer, R. E. Boissy, P. Manga, R. A. Sturm and Z. A. Abdel-Malek (2010) Melanocortin 1 receptor genotype: An important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB 24, 38503860.
  • 52
    Schioth, H. B., S. R. Phillips, R. Rudzish, M. A. Birch-Machin, J. E. Wikberg and J. L. Rees (1999) Loss-of-function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem. Biophys. Res. Commun. 260, 488491.
  • 53
    Rees, J. L. (2010) Vexed by red-headed conundrums. J. Invest. Dermatol. 130, 17711773.
  • 54
    Robinson, S., S. Dixon, S. August, B. Diffey, K. Wakamatsu, S. Ito, P. S. Friedmann and E. Healy (2010) Protection against UVR involves MC1R-mediated nonpigmentary and pigmentary mechanisms in vivo. J. Invest. Dermatol. 130, 19041913.
  • 55
    Kadekaro, A. I., R. Kavanagh, H. Kanto, S. Erzieva, J. Hauser, N. Kobayashi, S. Schwemberger, J. Cornelius, G. Babcock, H. G. Shertzer, G. Scott and Z. A. Abdel-Malek (2005) α-melanocortin and endothelin1 activate antiapoptotic pathways and reduce DNA damage in human melanocytes. Cancer Res. 65, 42924299.
  • 56
    Hauser, J. E., A. I. Kadekaro, R. J. Kavanagh, K. Wakamatsu, S. Terzieva, S. Schwemberger, G. Babcock, M. B. Rao, S. Ito and Z. A. Abdel-Malek (2006) Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes. Pigment Cell Res. 19, 303314.
  • 57
    Han, J., P. Kraft, G. A. Colditz, J. Wong and D. J. Hunter (2006) Melanocortin 1 receptor variants and skin cancer risk. Int. J. Cancer 119, 19761984.
  • 58
    Rees, J. L. (2003) Genetics of hair and skin color. Annu. Rev. Genet. 37, 6790.
  • 59
    Palmer, J. S., D. L. Duffy, N. F. Box, J. F. Aitken, L. E. O’Gorman, A. C. Green, N. K. Hayward, N. G. Martin and R. A. Sturm (2000) Melanocortin-1 receptor polymorphism and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66, 176186.
  • 60
    Kennedy, C., J. ter Huurne, M. Berkhout, N. Gruis, M. Bastiaens, W. Bergman, R. Willemze and J. N. Bavinck (2001) Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and color. J. Invest. Dermatol. 117, 294300.
  • 61
    Naysmith, L., K. Waterston, T. Ha, Y. Bisset, A. Ray, K. Wakamatsu, S. Ito and J. L. Rees (2004) Quantitative measures of the effect of the melanocortin 1 receptor on human pigmentary status. J. Invest. Dermatol. 122, 423428.
  • 62
    Moro, O., R. Ideta and O. Ifuku (1999) Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene. Biochem. Biophys. Res. 262, 452460.
  • 63
    Bastiaens, M., J. ter Huume, N. Gruis, W. Bergman, R. Westendorp, B. J. Vermeer and J. N. Bouwes Bavinck (2001) The melanocortin-1 receptor gene is the major freckle gene. Hum. Mol. Genet. 10, 17011708.
  • 64
    Motokawa, T., T. Kato, Y. Hashimoto and T. Katagiri (2007) Effect of Val92Met and Arg163Glm variants of the MC1R gene on freckles and solar lentigines in Japanese. Pigment Cell Res. 20, 140143.
  • 65
    Elfakir, A., K. Ezzedine, J. Latreille, L. Ambroisine, R. Jdid, P. Galan, S. Hercberg, F. Gruber, D. Malvy, E. Tschachler and C. Guinot (2010) Functional MC1R-gene variants are associated with increased risk for severe photoaging of facial skin. J. Invest. Dermatol. 130, 11071115.
  • 66
    Sulem, P., D. F. Gudbjartsson, S. N. Stacey, A. Helgason, T. Rafnar, K. P. Magnusson, A. Manolescu, A. Karason, A. Palsson, G. Thorleifsson, M. Jakobsdottir, S. Steinberg, S. Pálsson, F. Jonasson, B. Sigurgeirsson, K. Thorisdottir, R. Ragnarsson, K. R. Benediktsdottir, K. K. Aben, L. A. Kiemeney, J. H. Olafsson, J. Gulcher, A. Kong, U. Thorsteinsdottir and K. Stefansson (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39, 14431452.
  • 67
    Sturm, R. A., D. L. Duffy, N. F. Box, W. Chen, D. J. Smit, D. L. Brown, J. L. Stow, J. H. Leonard and N. G. Martin (2003) The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res. 16, 266272.
  • 68
    Rana, B. K., D. Hewett-Emmett, L. Jin, B. H. Chang, N. Sambuughin, M. Lin, S. Watkins, M. Bamshad, L. B. Jorde, M. Ramsay, T. Jenkins and W. H. Li (1999) High polymorphism at the human melanocortin 1 receptor locus. Genetics 151, 15471557.
  • 69
    Harding, R. M., E. Healy, A. J. Ray, N. S. Ellis, N. Flanagan, C. Todd, C. Dixon, A. Sajantila, I. J. Jackson, M. A. Birch-Machin and J. L. Rees (2000) Evidence for variable selective pressures at MC1R. Am. J. Hum. Genet. 66, 13511361.
  • 70
    Latreille, J., K. Ezzedine, A. Elfakir, L. Ambroisine, S. Gardinier, P. Galan, S. Hercberg, F. Gruber, J. Rees, E. Tschachler and C. Guinot (2009) MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women. Photochem. Photobiol. 85, 14511458.
  • 71
    Sturm, R. A., N. F. Box and M. Ramsay (1998) Human pigmentation genetics: The difference is only skin deep. Bioessays 20, 712721.