메뉴 건너뛰기




Volumn 87, Issue 5, 2011, Pages 978-987

Melanocortin 1 receptor variants: Functional role and pigmentary associations

Author keywords

[No Author keywords available]

Indexed keywords

EUMELANIN; ISOPROTEIN; MELANIN; MELANOCORTIN 1 RECEPTOR; PHEOMELANIN;

EID: 80052397478     PISSN: 00318655     EISSN: 17511097     Source Type: Journal    
DOI: 10.1111/j.1751-1097.2011.00970.x     Document Type: Review
Times cited : (91)

References (71)
  • 1
    • 79960295028 scopus 로고    scopus 로고
    • Epidemiologic risk factors of basal cell carcinoma development and age of onset in a Southern European population from Greece
    • 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, 622-626.
    • (2011) Exp. Dermatol , vol.20 , pp. 622-626
    • Dessinioti, C.1    Tzannis, K.2    Sypsa, V.3    Nikolaou, V.4    Kypreou, K.5    Antoniou, C.6    Katsambas, A.7    Stratigos, A.J.8
  • 4
    • 14944367557 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in the MATP gene is associated with normal human pigmentation variation
    • 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, 278-284.
    • (2005) Hum. Mutat. , vol.25 , pp. 278-284
    • Graf, J.1    Hodgson, R.2    Van Daal, A.3
  • 6
    • 0036215886 scopus 로고    scopus 로고
    • Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
    • 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, 92-94.
    • (2002) J. Hum. Genet. , vol.47 , pp. 92-94
    • Nakayama, K.1    Fukamachi, S.2    Kimura, H.3    Koda, Y.4    Soemantri, A.5    Ishida, T.6
  • 8
    • 33747184831 scopus 로고    scopus 로고
    • A golden age of human pigmentation genetics
    • Strum, R. A., (2006) A golden age of human pigmentation genetics. Trends Genet. 22, 464-468.
    • (2006) Trends Genet. , vol.22 , pp. 464-468
    • Strum, R.A.1
  • 9
    • 0034124462 scopus 로고    scopus 로고
    • The melanocortin 1 receptor (MC1R): More than just red hair
    • Rees, J. L., (2000) The melanocortin 1 receptor (MC1R): More than just red hair. Pigment Cell Res. 13, 135-140.
    • (2000) Pigment Cell Res. , vol.13 , pp. 135-140
    • Rees, J.L.1
  • 10
    • 6344290128 scopus 로고    scopus 로고
    • The genetics of sun sensitivity in humans
    • Rees, J. L., (2004) The genetics of sun sensitivity in humans. Am. J. Hum. Genet. 75, 739-751.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 739-751
    • Rees, J.L.1
  • 12
    • 77956301673 scopus 로고    scopus 로고
    • Genome-wide association studies of pigmentation and skin cancer: A review and meta-analysis
    • 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, 587-606.
    • (2010) Pigment Cell Melanoma Res. , vol.23 , pp. 587-606
    • Gerstenblith, M.R.1    Shi, J.2    Landi, M.T.3
  • 13
    • 63149157274 scopus 로고    scopus 로고
    • Molecular genetics of human pigmentation diversity
    • Sturm, R. A., (2009) Molecular genetics of human pigmentation diversity. Hum. Mol. Genet. 18 (R1), R9-R17.
    • (2009) Hum. Mol. Genet. , vol.18 , Issue.R1
    • Sturm, R.A.1
  • 17
    • 0035068231 scopus 로고    scopus 로고
    • Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
    • Leiden Skin Cancer Study Team.
    • 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, 884-894.
    • (2001) Am. J. Hum. Genet. , vol.6 , pp. 884-894
    • Bastiaens, M.T.1    Ter Huurne, J.A.2    Kielich, C.3    Gruis, N.A.4    Westendorp, R.G.5    Vermeer, B.J.6    Bavinck, J.N.7
  • 20
    • 69149091245 scopus 로고    scopus 로고
    • A review of genetic skin hypomelanoses: Lessons learned from the biology of melanocytes
    • 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, 741-749.
    • (2009) Exp. Dermatol. , vol.18 , pp. 741-749
    • Dessinioti, C.1    Stratigos, A.J.2    Rigopoulos, D.3    Katsambas, A.4
  • 21
    • 0026731363 scopus 로고
    • Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
    • Chhajlani, V., and, J. E. S. Wikberg, (1992) Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 309, 417-420.
    • (1992) FEBS Lett. , vol.309 , pp. 417-420
    • Chhajlani, V.1    Wikberg, J.E.S.2
  • 22
    • 0026800892 scopus 로고
    • The cloning of a family of genes that encode the melanocortin receptors
    • 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, 1248-1251.
    • (1992) Science , vol.257 , pp. 1248-1251
    • Mountjoy, K.G.1    Robbins, L.S.2    Mortrud, M.T.3    Cone, R.D.4
  • 23
    • 0029863304 scopus 로고    scopus 로고
    • Binding capacity and activation of the MC1 receptors by melanotropic hormones correlate directly with their mitogenic and melanogenic effects on human melanocytes
    • 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, 1627-1633.
    • (1996) Endocrinology , vol.137 , pp. 1627-1633
    • Suzuki, I.1    Cone, R.2    Im, S.3    Nordlund, J.4    Abdel-Malek, Z.A.5
  • 24
    • 25144477342 scopus 로고    scopus 로고
    • Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans
    • Makova, K., and, H. Norton, (2005) Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. Peptides 26, 1901-1908.
    • (2005) Peptides , vol.26 , pp. 1901-1908
    • Makova, K.1    Norton, H.2
  • 25
  • 26
    • 33747331352 scopus 로고    scopus 로고
    • Melanocortin receptor ligands: New horizons for skin biology and clinical dermatology
    • 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, 1966-1975.
    • (2006) J. Invest. Dermatol. , vol.126 , pp. 1966-1975
    • Böhm, M.1    Luger, T.A.2    Tobin, D.J.3    García-Borrón, J.C.4
  • 27
    • 0028786945 scopus 로고
    • Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans
    • 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, 328-330.
    • (1995) Nature Genet. , vol.11 , pp. 328-330
    • Valverde, P.1    Healy, E.2    Jackson, I.3    Rees, J.L.4    Thody, A.J.5
  • 28
    • 0031251817 scopus 로고    scopus 로고
    • 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
    • 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, 307-317.
    • (1997) J. Mol. Graph Model , vol.15 , pp. 307-317
    • Prusis, P.1    Schioth, H.B.2    Moceniece, R.3    Herzyk, P.4    Afshar, M.5    Hubbard, R.E.6    Wikberg, J.E.7
  • 29
    • 0030782275 scopus 로고    scopus 로고
    • Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
    • 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, 1891-1897.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1891-1897
    • Box, N.E.1    Wyeth, J.R.2    O'Gorman, L.E.3    Martin, N.G.4    Sturm, R.A.5
  • 30
    • 0031012096 scopus 로고    scopus 로고
    • Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects
    • 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, 30-36.
    • (1997) Hum. Mut. , vol.9 , pp. 30-36
    • Koppula, S.V.1    Robbins, L.S.2    Lu, D.3    Baack, E.4    White Jr., C.R.5    Swanson, N.A.6    Cone, R.D.7
  • 31
    • 0035904403 scopus 로고    scopus 로고
    • Human pigmentation genes identification, structure and consequences of polymorphic variation
    • Sturm, R. A., R. D. Teasdale, and, N. F. Box, (2001) Human pigmentation genes identification, structure and consequences of polymorphic variation. Gene 277, 49-62.
    • (2001) Gene , vol.277 , pp. 49-62
    • Sturm, R.A.1    Teasdale, R.D.2    Box, N.F.3
  • 33
    • 26444449038 scopus 로고    scopus 로고
    • Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
    • 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, 145-154.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 145-154
    • Beaumont, K.A.1    Newton, R.A.2    Smith, D.J.3    Leonard, J.H.4    Stow, J.L.5    Sturm, R.A.6
  • 35
    • 6344275551 scopus 로고    scopus 로고
    • Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair
    • 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, 917-923.
    • (2004) J. Invest. Dermatol. , vol.123 , pp. 917-923
    • Ringholm, A.1    Klovins, J.2    Rudzzish, R.3    Phillips, S.4    Rees, J.L.5    Schiöth, H.B.6
  • 36
    • 0030340912 scopus 로고    scopus 로고
    • Val92Met variant of the melanocyte stimulating hormone receptor gene
    • Xu, X., M. Thornwall, L. G. Laudin, and, V. Chhajlani, (1996) Val92Met variant of the melanocyte stimulating hormone receptor gene. Nat. Genet. 14, 384.
    • (1996) Nat. Genet. , vol.14 , pp. 384
    • Xu, X.1    Thornwall, M.2    Laudin, L.G.3    Chhajlani, V.4
  • 37
    • 34047270236 scopus 로고    scopus 로고
    • 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
    • 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, 3241-3251.
    • (2007) J. Biol. Chem. , vol.282 , pp. 3241-3251
    • Sanchez-Laorden, B.L.1    Jimenez-Cervantes, C.2    Garcia-Borron, J.C.3
  • 38
    • 36148947881 scopus 로고    scopus 로고
    • Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways
    • 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, 2387-2396.
    • (2007) Peptides , vol.28 , pp. 2387-2396
    • Newton, R.A.1    Roberts, D.W.2    Leonard, J.H.3    Sturm, R.A.4
  • 43
    • 34247647905 scopus 로고    scopus 로고
    • Comprehensive evaluation of allele frequency differences of MC1R variants across populations
    • 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, 495-505.
    • (2007) Hum. Mutat. , vol.28 , pp. 495-505
    • Gerstenblith, M.R.1    Goldstein, A.M.2    Fargnoli, M.C.3    Peris, K.4    Landi, M.T.5
  • 46
    • 1442332032 scopus 로고    scopus 로고
    • Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population
    • 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.
    • (2003) Hum. Mut. , vol.21 , pp. 655
    • Fargnoli, M.C.1    Chimenti, S.2    Keller, G.3    Hofler, H.4    Peris, K.5
  • 47
    • 0037336295 scopus 로고    scopus 로고
    • Quality control in the endoplasmic reticulum
    • Ellgaard, L., and, A. Helenius, (2003) Quality control in the endoplasmic reticulum. Nat. Rev. Mol. Cell Biol. 4, 181-191.
    • (2003) Nat. Rev. Mol. Cell Biol. , vol.4 , pp. 181-191
    • Ellgaard, L.1    Helenius, A.2
  • 49
    • 34548385653 scopus 로고    scopus 로고
    • Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
    • 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, 2249-2260.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 2249-2260
    • Beaumont, K.A.1    Shekar, S.N.2    Newton, R.A.3    James, M.R.4    Stow, J.L.5    Duffy, D.L.6    Sturm, R.A.7
  • 50
    • 0027413475 scopus 로고
    • Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
    • 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, 827-834.
    • (1993) Cell , vol.72 , pp. 827-834
    • Robbins, L.S.1    Nadeau, J.H.2    Johnson, K.R.3    Kelly, M.A.4    Roselli-Rehfuss, L.5    Baack, E.6    Mountjoy, K.G.7    Cone, R.D.8
  • 53
    • 77953604445 scopus 로고    scopus 로고
    • Vexed by red-headed conundrums
    • Rees, J. L., (2010) Vexed by red-headed conundrums. J. Invest. Dermatol. 130, 1771-1773.
    • (2010) J. Invest. Dermatol. , vol.130 , pp. 1771-1773
    • Rees, J.L.1
  • 57
    • 33748503917 scopus 로고    scopus 로고
    • Melanocortin 1 receptor variants and skin cancer risk
    • 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, 1976-1984.
    • (2006) Int. J. Cancer , vol.119 , pp. 1976-1984
    • Han, J.1    Kraft, P.2    Colditz, G.A.3    Wong, J.4    Hunter, D.J.5
  • 58
    • 0346786217 scopus 로고    scopus 로고
    • Genetics of hair and skin color
    • Rees, J. L., (2003) Genetics of hair and skin color. Annu. Rev. Genet. 37, 67-90.
    • (2003) Annu. Rev. Genet. , vol.37 , pp. 67-90
    • Rees, J.L.1
  • 60
    • 0035722059 scopus 로고    scopus 로고
    • Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and color
    • 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, 294-300.
    • (2001) J. Invest. Dermatol. , vol.117 , pp. 294-300
    • Kennedy, C.1    Ter Huurne, J.2    Berkhout, M.3    Gruis, N.4    Bastiaens, M.5    Bergman, W.6    Willemze, R.7    Bavinck, J.N.8
  • 62
    • 0033610058 scopus 로고    scopus 로고
    • Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene
    • 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, 452-460.
    • (1999) Biochem. Biophys. Res. , vol.262 , pp. 452-460
    • Moro, O.1    Ideta, R.2    Ifuku, O.3
  • 64
    • 33947302738 scopus 로고    scopus 로고
    • Effect of Val92Met and Arg163Glm variants of the MC1R gene on freckles and solar lentigines in Japanese
    • 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, 140-143.
    • (2007) Pigment Cell Res. , vol.20 , pp. 140-143
    • Motokawa, T.1    Kato, T.2    Hashimoto, Y.3    Katagiri, T.4
  • 71
    • 0032170736 scopus 로고    scopus 로고
    • Human pigmentation genetics: The difference is only skin deep
    • Sturm, R. A., N. F. Box, and, M. Ramsay, (1998) Human pigmentation genetics: The difference is only skin deep. Bioessays 20, 712-721.
    • (1998) Bioessays , vol.20 , pp. 712-721
    • Sturm, R.A.1    Box, N.F.2    Ramsay, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.