MC1R

Summary

Gene Symbol: MC1R
Description: melanocortin 1 receptor
Alias: CMM5, MSH-R, SHEP2, melanocyte-stimulating hormone receptor, MC1-R, alpha melanocyte stimulating hormone receptor, melanotropin receptor
Species: human
Products:     MC1R

Top Publications

  1. Cust A, Goumas C, Holland E, Agha Hamilton C, Aitken J, Armstrong B, et al. MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study. Int J Cancer. 2012;131:E269-81 pubmed publisher
    The contribution of melanocortin-1 receptor (MC1R) gene variants to the development of early-onset melanoma is unknown...
  2. Ling M, Lagerström M, Fredriksson R, Okimoto R, Mundy N, Takeuchi S, et al. Association of feather colour with constitutively active melanocortin 1 receptors in chicken. Eur J Biochem. 2003;270:1441-9 pubmed
  3. Pérez Oliva A, Fernéndez L, Detorre C, Herraiz C, Martinez Escribano J, Benitez J, et al. Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients. Hum Mutat. 2009;30:811-22 pubmed publisher
    ..b>MC1R activation stimulates synthesis of black, strongly photoprotective eumelanin pigments...
  4. Aoki H, Moro O. Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R). Life Sci. 2002;71:2171-9 pubmed
    Analysis of the nucleotide sequence of human melanocortin-1 receptor (MC1R) promoter indicated that an E-box (CANNTG) is present immediately upstream of the transcriptional initiation site...
  5. Healy E, Jordan S, Budd P, Suffolk R, Rees J, Jackson I. Functional variation of MC1R alleles from red-haired individuals. Hum Mol Genet. 2001;10:2397-402 pubmed
    Red hair in humans is associated with variant alleles of the alphaMSH receptor gene, MC1R. Loss of MC1R function in other mammals results in red or yellow hair pigmentation...
  6. Kanetsky P, Rebbeck T, Hummer A, Panossian S, Armstrong B, Kricker A, et al. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res. 2006;66:9330-7 pubmed
    Natural variation in the coding region of the melanocortin-1 receptor (MC1R) gene is associated with constitutive pigmentation phenotypes and development of melanoma and nonmelanoma skin cancers...
  7. John P, Makova K, Li W, Jenkins T, Ramsay M. DNA polymorphism and selection at the melanocortin-1 receptor gene in normally pigmented southern African individuals. Ann N Y Acad Sci. 2003;994:299-306 pubmed
    ..Melanocortin-1 receptor (MC1R) is one of the genes involved in pigmentation, and has been implicated in the red hair and pale skin phenotype in ..
  8. Brudnik U, Branicki W, Wojas Pelc A, Kanas P. 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. 2009;18:167-74 pubmed publisher
    In this study, we assessed the role of melanocortin-1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population...
  9. 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 Genet. 2008;4:e1000074 pubmed publisher
    ..The signals detected in a region around the MC1R gene were explained by MC1R red hair color alleles...

More Information

Publications102 found, 100 shown here

  1. Matichard E, Verpillat P, Meziani R, Gerard B, Descamps V, Legroux E, et al. 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. 2004;41:e13 pubmed
  2. Goldstein A, Chaudru V, Ghiorzo P, Badenas C, Malvehy J, Pastorino L, et al. Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. Int J Cancer. 2007;121:825-31 pubmed
    ..Cases also varied significantly for eye color, freckling, and nevi. The distribution of MC1R variants in cases differed significantly across study groups because 12% of Italian melanoma patients had > or =..
  3. Sánchez Más J, Guillo L, Zanna P, Jimenez Cervantes C, Garcia Borron J. Role of G protein-coupled receptor kinases in the homologous desensitization of the human and mouse melanocortin 1 receptors. Mol Endocrinol. 2005;19:1035-48 pubmed
    ..We found that the human melanocortin 1 receptor (MC1R) and its mouse ortholog (Mc1r) undergo homologous desensitization in melanoma cells...
  4. Yamaguchi K, Watanabe C, Kawaguchi A, Sato T, Naka I, Shindo M, et al. Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese. J Hum Genet. 2012;57:700-8 pubmed publisher
    ..We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese...
  5. Hacker E, Hayward N, Dumenil T, James M, Whiteman D. The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: findings from an Australian population. J Invest Dermatol. 2010;130:241-8 pubmed publisher
    ..Melanomas collected from 123 Australian patients were analyzed for melanocortin-1 receptor (MC1R) variants and mutations in the BRAF and NRAS genes...
  6. Rana B, Hewett Emmett D, Jin L, Chang B, Sambuughin N, Lin M, et al. High polymorphism at the human melanocortin 1 receptor locus. Genetics. 1999;151:1547-57 pubmed
    ..The melanocortin 1 receptor (MC1R) is a regulator of eu- and phaeomelanin production in the melanocytes, and MC1R mutations causing coat color ..
  7. Liboutet M, Portela M, Delestaing G, Vilmer C, Dupin N, Gorin I, et al. MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. J Invest Dermatol. 2006;126:1510-7 pubmed
    In this study, we assessed the role of melanocortin 1 receptor (MC1R) variants and of two patched (PTCH) polymorphisms (c...
  8. Landi M, Kanetsky P, Tsang S, Gold B, Munroe D, Rebbeck T, et al. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst. 2005;97:998-1007 pubmed
    ..Variants of the melanocortin-1 receptor (MC1R) gene have been associated with fair pigmentation and melanoma risk, and a polymorphism of the Agouti Signaling ..
  9. Sánchez Laorden B, Herraiz C, Valencia J, Hearing V, Jiménez Cervantes C, García Borrón J. Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi. J Cell Physiol. 2009;220:640-54 pubmed publisher
    The melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor (GPCR) expressed in melanocytes, is a major determinant of skin pigmentation and phototype...
  10. Moro O, Ideta R, Ifuku O. Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene. Biochem Biophys Res Commun. 1999;262:452-60 pubmed
    We sequenced 3201 bp upstream from the ATG translation start codon of the human melanocortin-1 receptor (MC1R)...
  11. Box N, Duffy D, Irving R, Russell A, Chen W, Griffyths L, et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol. 2001;116:224-9 pubmed
    b>MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in ..
  12. Sturm R, Duffy D, Box N, Chen W, Smit D, Brown D, et al. The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res. 2003;16:266-72 pubmed
    We have examined melanocortin-1 receptor (MC1R) variant allele frequencies in the general population and in a collection of adolescent dizygotic and monozygotic twins to determine statistical associations of pigmentation phenotypes with ..
  13. Mogil J, Ritchie J, Smith S, Strasburg K, Kaplan L, Wallace M, et al. Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans. J Med Genet. 2005;42:583-7 pubmed
    A recent genetic study in mice and humans revealed the modulatory effect of MC1R (melanocortin-1 receptor) gene variants on kappa-opioid receptor mediated analgesia...
  14. Herraiz C, Journe F, Abdel Malek Z, Ghanem G, Jimenez Cervantes C, Garcia Borron J. Signaling from the human melanocortin 1 receptor to ERK1 and ERK2 mitogen-activated protein kinases involves transactivation of cKIT. Mol Endocrinol. 2011;25:138-56 pubmed publisher
    Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor expressed in melanocytes, is a major determinant of skin pigmentation, phototype and cancer risk. Upon stimulation by ?MSH, MC1R triggers the cAMP and ERK1/ERK2 MAPK pathways...
  15. Mountjoy K, Robbins L, Mortrud M, Cone R. The cloning of a family of genes that encode the melanocortin receptors. Science. 1992;257:1248-51 pubmed
    ..The murine and human MSH receptors (MSH-Rs) and a human ACTH receptor (ACTH-R) were cloned. These receptors define a subfamily of receptors coupled to guanine nucleotide-binding proteins that may include the cannabinoid receptor. ..
  16. Rees J. The melanocortin 1 receptor (MC1R): more than just red hair. Pigment Cell Res. 2000;13:135-40 pubmed
    ..Loss-of-function mutations at the MC1R are associated with a switch from eumelanin to phaeomelanin production, resulting in a red or yellow coat colour...
  17. Bastiaens M, ter Huurne J, Kielich C, Gruis N, Westendorp R, Vermeer B, et al. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet. 2001;68:884-94 pubmed
    Melanocortin-1 receptor (MC1R) gene variants are associated with fair skin and red hair and, independently of these, with cutaneous malignant melanoma. The association of MC1R gene variants with nonmelanoma skin cancer is largely unknown...
  18. Na G, Lee K, Kim M, Lee S, Kim D, Kim J. Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients. Pigment Cell Res. 2003;16:383-7 pubmed
    We have examined the frequency of SNP polymorphisms within the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in 114 Korean vitiligo patients and 111 normal controls to assess the association of these loci with ..
  19. Landi M, Bauer J, Pfeiffer R, Elder D, Hulley B, Minghetti P, et al. MC1R germline variants confer risk for BRAF-mutant melanoma. Science. 2006;313:521-2 pubmed
    Germline variants in MC1R, the gene encoding the melanocortin-1 receptor, and sun exposure increase risk for melanoma in Caucasians...
  20. Grassel S, Opolka A, Anders S, Straub R, Grifka J, Luger T, et al. The melanocortin system in articular chondrocytes: melanocortin receptors, pro-opiomelanocortin, precursor proteases, and a regulatory effect of alpha-melanocyte-stimulating hormone on proinflammatory cytokines and extracellular matrix components. Arthritis Rheum. 2009;60:3017-27 pubmed publisher
  21. Barrett J, Iles M, Harland M, Taylor J, Aitken J, Andresen P, et al. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet. 2011;43:1108-13 pubmed publisher
    ..6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series. ..
  22. Smith A, Luk N, Newton R, Roberts D, Sturm R, Muscat G. Melanocortin-1 receptor signaling markedly induces the expression of the NR4A nuclear receptor subgroup in melanocytic cells. J Biol Chem. 2008;283:12564-70 pubmed publisher
    ..In humans MC1R has been found to be highly polymorphic with several functional variants associated with the phenotype of red hair ..
  23. Pastorino L, Bonelli L, Ghiorzo P, Queirolo P, Battistuzzi L, Balleari E, et al. CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. Pigment Cell Melanoma Res. 2008;21:700-9 pubmed publisher
    We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital-based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95)...
  24. Kanetsky P, Panossian S, Elder D, Guerry D, Ming M, Schuchter L, et al. Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?. Cancer. 2010;116:2416-28 pubmed publisher
    A study was carried out to describe associations of MC1R variants and melanoma in a US population and to investigate whether genetic risk is modified by pigmentation characteristics and sun exposure measures...
  25. Dwyer T, Stankovich J, Blizzard L, FitzGerald L, Dickinson J, Reilly A, et al. Does the addition of information on genotype improve prediction of the risk of melanoma and nonmelanoma skin cancer beyond that obtained from skin phenotype?. Am J Epidemiol. 2004;159:826-33 pubmed
    ..cell carcinoma of the skin made possible by information on common variants of the melanocortin-1 receptor gene (MC1R) in a 1998-1999 population-based case-control study of subjects aged 20-59 years of northern European ancestry in ..
  26. Beaumont K, Newton R, Smit D, Leonard J, Stow J, Sturm R. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum Mol Genet. 2005;14:2145-54 pubmed
    The human melanocortin-1 receptor gene (MC1R) encodes a G-protein coupled receptor that is primarily expressed on melanocytes, where it plays a key role in pigmentation regulation...
  27. Han J, Kraft P, Colditz G, Wong J, Hunter D. Melanocortin 1 receptor variants and skin cancer risk. Int J Cancer. 2006;119:1976-84 pubmed
    Melanocortin 1 receptor (MC1R) gene variants are associated with red hair and fair skin color...
  28. Herraiz C, Jimenez Cervantes C, Zanna P, Garcia Borron J. Melanocortin 1 receptor mutations impact differentially on signalling to the cAMP and the ERK mitogen-activated protein kinase pathways. FEBS Lett. 2009;583:3269-74 pubmed publisher
    Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor expressed in melanocytes, is a major determinant of skin pigmentation, phototype and cancer risk. MC1R activates cAMP and mitogen-activated protein kinase ERK1/ERK2 signalling...
  29. Williams P, Olsen C, Hayward N, Whiteman D. Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden. Int J Cancer. 2011;129:1730-40 pubmed publisher
    Polymorphisms in the melanocortin 1 receptor (MC1R) gene have been associated with increased risks of melanoma, but different approaches to study design, analysis, and reporting have hindered comparisons of findings...
  30. Koppula S, Robbins L, Lu D, Baack E, White C, Swanson N, et al. Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects. Hum Mutat. 1997;9:30-6 pubmed
    ..The D84E allele was found in one individual with skin type I; this person also has the V92 M allele and thus is a compound heterozygote. ..
  31. Jimenez Cervantes C, Germer S, Gonzalez P, Sanchez J, Sánchez C, Garcia Borron J. Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor. FEBS Lett. 2001;508:44-8 pubmed
    Activation by melanocortins of the melanocortin 1 receptor (MC1R), expressed in epidermal melanocytes, stimulates melanogenesis...
  32. Fargnoli M, Fargnoli M, Pike K, Pfeiffer R, Tsang S, Rozenblum E, et al. MC1R variants increase risk of melanomas harboring BRAF mutations. J Invest Dermatol. 2008;128:2485-90 pubmed publisher
    Melanocortin-1 receptor (MC1R) variants have been associated with BRAF (v-raf murine sarcoma viral oncogene homolog B1) mutations in non-CSD (chronic solar-damaged) melanomas in an Italian and an American population...
  33. Peng S, Lu X, Luo H, Xiang Yu J, Zhang Y. Melanocortin-1 receptor gene variants in four Chinese ethnic populations. Cell Res. 2001;11:81-4 pubmed
    There is strong relationship between melanocortin-1 receptor (MC1R) gene variants and human hair color and skin type...
  34. Box N, Duffy D, Chen W, Stark M, Martin N, Sturm R, et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet. 2001;69:765-73 pubmed
    ..In contrast, variants of the melanocortin-1 receptor gene, MC1R, confer much lower melanoma risk but are common in European populations...
  35. van der Velden P, Sandkuijl L, Bergman W, Pavel S, van Mourik L, Frants R, et al. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet. 2001;69:774-9 pubmed
    ..Variants of the melanocortin-1 receptor (MC1R) gene have been shown to be associated with red hair, fair skin, and melanoma in humans...
  36. Scott M, Suzuki I, Abdel Malek Z. Regulation of the human melanocortin 1 receptor expression in epidermal melanocytes by paracrine and endocrine factors and by ultraviolet radiation. Pigment Cell Res. 2002;15:433-9 pubmed
    The aim of this study is to investigate the regulation of the human melanocortin 1 receptor (MC1R) expression in cultured normal human melanocytes (NHM) by specific paracrine and endocrine factors, and by ultraviolet radiation (UVR)...
  37. Jannot A, Meziani R, Bertrand G, Gerard B, Descamps V, Archimbaud A, et al. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet. 2005;13:913-20 pubmed
    ..detected using a logistic model taking into account the presence of variants of the melanocortin 1 receptor gene (MC1R, a key pigmentation gene) and all pigmentation characteristics as melanoma risk factors...
  38. Stratigos A, Dimisianos G, Nikolaou V, Poulou M, Sypsa V, Stefanaki I, et al. Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. J Invest Dermatol. 2006;126:1842-9 pubmed
    Individuals with melanocortin 1 receptor (MC1R) gene variants have been shown to carry an increased risk for the development of melanoma...
  39. Bishop D, Demenais F, Iles M, Harland M, Taylor J, Corda E, et al. Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet. 2009;41:920-5 pubmed publisher
    ..Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2...
  40. Valverde P, Healy E, Jackson I, Rees J, Thody A. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet. 1995;11:328-30 pubmed
    ..of phaeomelanin and eumelanin are regulated by melanocyte stimulating hormone (MSH), which acts via its receptor (MC1R), on melanocytes, to increase the synthesis of eumelanin and the product of the agouti locus which antagonises this ..
  41. Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, et al. Molecular cloning of a novel melanocortin receptor. J Biol Chem. 1993;268:8246-50 pubmed
    ..These findings may yield insight into the physiology of peptides derived from pro-opiomelanocortin post-translational processing. ..
  42. Nan H, Qureshi A, Hunter D, Han J. Interaction between p53 codon 72 polymorphism and melanocortin 1 receptor variants on suntan response and cutaneous melanoma risk. Br J Dermatol. 2008;159:314-21 pubmed publisher
    ..Induction of POMC/alpha-melanocyte-stimulating hormone (alpha-MSH) activates the melanocortin 1 receptor (MC1R), resulting in skin pigmentation...
  43. Fargnoli M, Gandini S, Peris K, Maisonneuve P, Raimondi S. MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. Eur J Cancer. 2010;46:1413-20 pubmed publisher
    We performed a meta-analysis to assess whether MC1R variants increase the risk of melanoma in CDKN2A mutation carriers of melanoma-prone families...
  44. Beaumont K, Wong S, Ainger S, Liu Y, Patel M, Millhauser G, et al. Melanocortin MC? receptor in human genetics and model systems. Eur J Pharmacol. 2011;660:103-10 pubmed publisher
  45. Robbins L, Nadeau J, Johnson K, Kelly M, Roselli Rehfuss L, Baack E, et al. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell. 1993;72:827-34 pubmed
    ..The Eso-3J receptor is constitutively activated, while the Etob receptor remains hormone responsive and produces a greater activation of its effector, adenylyl cyclase, than does the wild-type allele. ..
  46. Abdel Malek Z, Scott M, Suzuki I, Tada A, Im S, Lamoreux L, et al. The melanocortin-1 receptor is a key regulator of human cutaneous pigmentation. Pigment Cell Res. 2000;13 Suppl 8:156-62 pubmed
    The cloning and characterization of the human melanocortin-1 receptor (MC1R) and the demonstration that normal human melanocytes respond to the melanocortins, alpha-melanocyte stimulating hormone (alpha-MSH) and adrenocorticotrophic ..
  47. Guedj M, Bourillon A, Combadières C, Rodero M, Dieude P, Descamps V, et al. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat. 2008;29:1154-60 pubmed publisher
    In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition...
  48. Cuellar F, Puig S, Kolm I, Puig Butille J, Zaballos P, Marti Laborda R, et al. Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers. Br J Dermatol. 2009;160:48-53 pubmed publisher
    The presence of at least one MC1R gene variant is associated with a reduction in age at melanoma diagnosis in families with CDKN2A mutations...
  49. Gao X, Simon K, Han J, Schwarzschild M, Ascherio A. Genetic determinants of hair color and Parkinson's disease risk. Ann Neurol. 2009;65:76-82 pubmed publisher
    ..15; 95% confidence interval, 1.1-9.4). These findings suggest a potential role of pigmentation in PD. ..
  50. Scott M, Wakamatsu K, Ito S, Kadekaro A, Kobayashi N, Groden J, et al. Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J Cell Sci. 2002;115:2349-55 pubmed
    ..the binding of alpha-melanotropin (alpha-melanocyte-stimulating hormone) to the functional melanocortin 1 receptor (MC1R) expressed on melanocytes...
  51. Fernandez L, Milne R, Bravo J, Lopez J, Avilés J, Longo M, et al. MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. Carcinogenesis. 2007;28:1659-64 pubmed
    The human melanocortin-1 receptor (MC1R) gene, which plays a crucial role in pigmentation, also appears to be important in malignant melanoma (MM)...
  52. Preising M, Forster H, Tan H, Lorenz B, De Jong P, Plomp A. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. Mol Vis. 2007;13:1851-5 pubmed
    ..To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported...
  53. Galore Haskel G, Azizi E, Mohamdi H, Scope A, Chaudru V, Laitman Y, et al. MC1R variant alleles and malignant melanoma risk in Israel. Eur J Cancer. 2009;45:2015-22 pubmed publisher
    To evaluate the contribution of MC1R variants to malignant melanoma risk in Israeli Jews, sequencing of the MC1R gene was performed in 132 melanoma patients and 184 ethnically matched controls...
  54. Kadekaro A, Leachman S, Kavanagh R, Swope V, Cassidy P, Supp D, et al. Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB J. 2010;24:3850-60 pubmed publisher
    ..Our findings highlight the molecular mechanisms by which the melanocortin 1 receptor genotype controls genomic stability of and the mutagenic effect of ultraviolet radiation on human melanocytes. ..
  55. Debniak T, Scott R, Masojć B, Serrano Fernandez P, Huzarski T, Byrski T, et al. MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk. Int J Cancer. 2006;119:2597-602 pubmed
    We sought to examine the association between MC1R variants and the risk of melanoma and breast cancer in Polish population. We also determined the prevalence of compound heterozygous carriers of MC1R and CDKN2A (A148T) variants...
  56. Gerstenblith M, Goldstein A, Fargnoli M, Peris K, Landi M. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat. 2007;28:495-505 pubmed
    The melanocortin 1 receptor (MC1R), a member of the G protein-coupled receptors superfamily, mediates the response to melanocortins and is currently the best-described contributor to normal pigment variation in humans...
  57. Beaumont K, Shekar S, Shekar S, Newton R, James M, Stow J, et al. Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum Mol Genet. 2007;16:2249-60 pubmed
    The human melanocortin-1 receptor (MC1R) is a G-protein coupled receptor involved in the regulation of pigmentation. Several MC1R variant alleles are associated with red hair, fair skin and increased skin cancer risk...
  58. Branicki W, Brudnik U, Wojas Pelc A. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet. 2009;73:160-70 pubmed publisher
    ..Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting ..
  59. Pastorino L, Cusano R, Bruno W, Lantieri F, Origone P, Barile M, et al. Novel MC1R variants in Ligurian melanoma patients and controls. Hum Mutat. 2004;24:103 pubmed
    Several variant forms of the melanocortin-1 receptor gene (MC1R) have been associated with red hair, fair skin and an increased risk for melanoma...
  60. Duffy D, Zhao Z, Sturm R, Hayward N, Martin N, Montgomery G. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol. 2010;130:520-8 pubmed publisher
    We have previously described the role of red hair (melanocortin-1 receptor, MC1R) and blue eye (oculocutaneous albinism type II, OCA2) gene polymorphisms in modulating the risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed ..
  61. Box N, Wyeth J, O Gorman L, Martin N, Sturm R. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genet. 1997;6:1891-7 pubmed
    ..Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production. ..
  62. Abdel Malek Z, Suzuki I, Tada A, Im S, Akcali C. The melanocortin-1 receptor and human pigmentation. Ann N Y Acad Sci. 1999;885:117-33 pubmed
    ..Cloning of the melanocortin-1 receptor (MC1R), and the feasibility of establishing normal human epidermal melanocyte cultures have made it possible to ..
  63. Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer B, et al. The melanocortin-1-receptor gene is the major freckle gene. Hum Mol Genet. 2001;10:1701-8 pubmed
    ..Both lesions are strong risk indicators for melanoma and non-melanoma skin cancer. Melanocortin-1-receptor (MC1R) gene variants are also associated with fair skin, red hair and melanoma and non-melanoma skin cancer...
  64. Sánchez Laorden B, Jimenez Cervantes C, Garcia Borron J. Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer. J Biol Chem. 2007;282:3241-51 pubmed
    The melanocortin 1 receptor (MC1R), a G protein-coupled receptor (GPCR) positively coupled to adenylyl cyclase, is a key regulator of melanocyte proliferation and differentiation and a determinant of pigmentation, skin phototype, and skin ..
  65. John P, Ramsay M. Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S. Hum Mutat. 2002;19:461-2 pubmed
    ..b>MC1R is one of the genes involved in pigmentation, and has been implicated in the red hair and pale skin trait in human ..
  66. April C, Barsh G. Distinct pigmentary and melanocortin 1 receptor-dependent components of cutaneous defense against ultraviolet radiation. PLoS Genet. 2007;3:e9 pubmed
    Genetic variation at the melanocortin 1 receptor (MC1R) is an important risk factor for developing ultraviolet (UV) radiation-induced skin cancer, the most common form of cancer in humans...
  67. Branicki W, Brudnik U, Kupiec T, Wolańska Nowak P, Wojas Pelc A. Determination of phenotype associated SNPs in the MC1R gene. J Forensic Sci. 2007;52:349-54 pubmed
    ..have proved that there is a significant association between some genetic variants of the melanocortin 1 receptor (MC1R) gene and red hair color...
  68. Dessinioti C, Antoniou C, Katsambas A, Stratigos A. Melanocortin 1 receptor variants: functional role and pigmentary associations. Photochem Photobiol. 2011;87:978-87 pubmed publisher
    ..genetic trait, with more than 120 genes involved in its regulation, among which the melanocortin 1 receptor gene (MC1R) plays a key role...
  69. Peña Vilabelda M, Garcia Casado Z, Requena C, Traves V, Lopez Guerrero J, Guillen C, et al. Clinical characteristics of patients with cutaneous melanoma according to variants in the melanocortin 1 receptor gene. Actas Dermosifiliogr. 2014;105:159-71 pubmed publisher
    Patients with cutaneous melanoma who are carriers of polymorphisms in the melanocortin 1 receptor gene (MC1R) have distinctive clinical characteristics...
  70. Valverde P, Healy E, Sikkink S, Haldane F, Thody A, Carothers A, et al. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet. 1996;5:1663-6 pubmed
    ..We have previously shown that variants of the melanocortin receptor present on melanocytes, MC1R, are associated with sun sensitivity and red hair in a UK population and therefore now consider the gene as a ..
  71. Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen P, Rosdahl I, et al. Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol. 1998;111:119-22 pubmed
    The identification of an association between variants in the human melanocortin 1 receptor (MC1R) gene and red hair and fair skin, as well as the relation between variants of this gene and coat color in animals, suggests that the MC1R is ..
  72. 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. J Invest Dermatol. 2004;122:423-8 pubmed
    ..The only gene known to exert an effect on pigmentary within the normal population is the melanocortin-1 receptor (MC1R)...
  73. 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. Hum Genet. 2006;119:322-30 pubmed
    Human melanocortin 1 receptor (MC1R) is a seven transmembrane G-coupled protein receptor that upregulates the cAMP pathway...
  74. Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Magnusson K, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39:1443-52 pubmed
    ..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.
  75. Höiom V, Tuominen R, Käller M, Linden D, Ahmadian A, Månsson Brahme E, et al. MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. Pigment Cell Melanoma Res. 2009;22:196-204 pubmed publisher
    ..genes, like CDKN2A, and allelic variation in low-penetrance genes like the melanocortin-1 receptor gene, MC1R. Red-hair colour associated MC1R alleles (RHC) have been associated with red hair, fair skin and risk of CMM...
  76. Ibarrola Villava M, Hu H, Guedj M, Fernandez L, Descamps V, Basset Seguin N, et al. MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis. Eur J Cancer. 2012;48:2183-91 pubmed publisher
    ..melanoma were analysed in a meta-analysis conducted in three South European populations: five red hair colour (RHC) MC1R alleles, one SLC45A2 variant (p.Phe374Leu) and one thermosensitive TYR variant (p.Arg402Gln)...
  77. Vajdic C, Kricker A, Duffy D, Aitken J, Stark M, ter Huurne J, et al. Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study. Melanoma Res. 2003;13:409-13 pubmed
    Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma...
  78. Galore G, Azizi E, Scope A, Pavlotsky F, Yakobson E, Friedman E. The Y152X MC1R gene mutation: occurrence in ethnically diverse Jewish malignant melanoma patients. Melanoma Res. 2007;17:105-8 pubmed
    b>MC1R sequence variants are associated with malignant melanoma risk, and most commonly are missense mutations. Few (n=9) truncating mutations have been described in this gene as predisposing to malignant melanoma...
  79. Martinez Cadenas C, López S, Ribas G, Flores C, Garcia O, Sevilla A, et al. Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans. Mol Biol Evol. 2013;30:2654-65 pubmed publisher
    In humans, the geographical apportionment of the coding diversity of the pigmentary locus melanocortin-1 receptor (MC1R) is, unusually, higher in Eurasians than in Africans...
  80. Robinson S, Healy E. Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix. Oncogene. 2002;21:8037-46 pubmed
    ..Melanocortin 1 receptor (MC1R) gene variants alter pigment synthesis in vivo, and are causally associated with red hair and fair skin in humans...
  81. Sánchez Más J, Olivares Sánchez C, Ghanem G, Haycock J, Lozano Teruel J, García Borrón J, et al. Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function. Eur J Biochem. 2002;269:6133-41 pubmed
    The alpha-melanocyte-stimulating hormone (alphaMSH) receptor (MC1R) is a major determinant of mammalian skin and hair pigmentation...
  82. Ringholm A, Klovins J, Rudzish R, Phillips S, Rees J, Schioth H. Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J Invest Dermatol. 2004;123:917-23 pubmed
    ..The results provide important pharmacological characterization of common MC1 receptor variants in various world populations. ..
  83. Scherer D, Bermejo J, Rudnai P, Gurzau E, Koppova K, Hemminki K, et al. MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. Int J Cancer. 2008;122:1787-93 pubmed
    The variants within the human melanocortin 1 receptor (MC1R) gene are associated with an increased risk of different skin cancers...
  84. Beaumont K, Shekar S, Cook A, Duffy D, Sturm R. Red hair is the null phenotype of MC1R. Hum Mutat. 2008;29:E88-94 pubmed publisher
    The Melanocortin-1 Receptor (MC1R) is a G-protein coupled receptor, which is responsible for production of the darker eumelanin pigment and the tanning response...
  85. Demenais F, Mohamdi H, Chaudru V, Goldstein A, Newton Bishop J, Bishop D, et al. Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. J Natl Cancer Inst. 2010;102:1568-83 pubmed publisher
    ..modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process...
  86. Kanetsky P, Ge F, Najarian D, Swoyer J, Panossian S, Schuchter L, et al. Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach. Cancer Epidemiol Biomarkers Prev. 2004;13:808-19 pubmed
    The melanocortin-1 receptor gene (MC1R) encodes a membrane-bound receptor protein that is central to melanin synthesis...
  87. Sánchez Laorden B, Sánchez Más J, Martínez Alonso E, Martínez Menárguez J, Garcia Borron J, Jimenez Cervantes C. Dimerization of the human melanocortin 1 receptor: functional consequences and dominant-negative effects. J Invest Dermatol. 2006;126:172-81 pubmed
    The melanocortin 1 receptor (MC1R), a G(S)-protein-coupled receptor (GPCR), is a key regulator of proliferation and differentiation of epidermal melanocytes, and a determinant of human skin phototype and cancer risk...
  88. Ghiorzo P, Pastorino L, Pizzichetta M, Bono R, Queirolo P, Talamini R, et al. CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Res. 2009;19:142-5 pubmed publisher
    ..AM and PM patients, and testing them for germline mutations in high- (p16INK4A, p14ARF, CDK4) and low-penetrance (MC1R) melanoma susceptibility genes. Similar CDKN2A mutations were found in both sets of melanomas...
  89. Kennedy C, ter Huurne J, Berkhout M, Gruis N, Bastiaens M, Bergman W, et al. Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol. 2001;117:294-300 pubmed
    ..We conclude that numerous melanocortin 1 receptor variants predispose to cutaneous melanoma and that possibly the Asp84Glu variant confers the highest risk. This predisposition is largely independent of skin type and hair color. ..
  90. King R, Willaert R, Schmidt R, Pietsch J, Savage S, Brott M, et al. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003;73:638-45 pubmed
    ..Sequence variation in the melanocortin-1 receptor (MC1R) gene is associated with red hair in the normal population, but red hair is unusual in OCA...
  91. Makova K, Norton H. Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. Peptides. 2005;26:1901-8 pubmed
    ..Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans...
  92. Fargnoli M, Altobelli E, Keller G, Chimenti S, Hofler H, Peris K. Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study. Melanoma Res. 2006;16:175-82 pubmed
    The melanocortin-1 receptor (MC1R) gene is a key determinant of the physiological variation in human skin pigmentation...