메뉴 건너뛰기




Volumn 14, Issue 15, 2005, Pages 2145-2154

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; CELL SURFACE RECEPTOR; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; HISTIDINE; ISOLEUCINE; LEUCINE; LIGAND; MELANOCORTIN 1 RECEPTOR; METHIONINE; THREONINE; TRYPTOPHAN; VALINE;

EID: 26444449038     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi219     Document Type: Article
Times cited : (148)

References (50)
  • 1
    • 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, 67-91.
    • (2003) Annu. Rev. Genet. , vol.37 , pp. 67-91
    • Rees, J.L.1
  • 2
    • 0035904403 scopus 로고    scopus 로고
    • Human pigmentation genes: Identification, structure and consequences of polymorphic variation
    • Sturm, R., Teasdale, R. and Box, N. (2001) Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene, 277, 49-62.
    • (2001) Gene , vol.277 , pp. 49-62
    • Sturm, R.1    Teasdale, R.2    Box, N.3
  • 3
    • 0002789507 scopus 로고    scopus 로고
    • General biology of mammalian pigmentation
    • Nordlund, J., Boissy, R., Hearing, V., King, R. and Ortonne, J. (eds), Oxford University Press, New York
    • Quevedo, W. and Holstein, T. (1998) General biology of mammalian pigmentation. In Nordlund, J., Boissy, R., Hearing, V., King, R. and Ortonne, J. (eds), The Pigmentaty System: Physiology and Pathophysiology, Oxford University Press, New York, pp. 43-58.
    • (1998) The Pigmentaty System: Physiology and Pathophysiology , pp. 43-58
    • Quevedo, W.1    Holstein, T.2
  • 4
    • 0032170736 scopus 로고    scopus 로고
    • Human pigmentation genetics: The difference is only skin deep
    • Sturm, R.A., Box, N.F. and Ramsay, M. (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
  • 6
    • 0037902622 scopus 로고    scopus 로고
    • A chemist's view of melanogenesis
    • Ito, S. (2003) A chemist's view of melanogenesis. Pigment Cell Res. 16, 230-236.
    • (2003) Pigment Cell Res. , vol.16 , pp. 230-236
    • Ito, S.1
  • 7
    • 0034127724 scopus 로고    scopus 로고
    • Cyclic AMP a key messenger in the regulation of skin pigmentation
    • Busca, R. and Ballotti, R. (2000) Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res., 13, 60-69.
    • (2000) Pigment Cell Res. , vol.13 , pp. 60-69
    • Busca, R.1    Ballotti, R.2
  • 8
    • 0034661187 scopus 로고    scopus 로고
    • Mitf from neural crest to melanoma: Signal transduction and transcription in the melanocyte lineage
    • Goding, C.R. (2000) Mitf from neural crest to melanoma: Signal transduction and transcription in the melanocyte lineage. Genes Dev. 14, 1712-1728.
    • (2000) Genes Dev. , vol.14 , pp. 1712-1728
    • Goding, C.R.1
  • 9
    • 0035490904 scopus 로고    scopus 로고
    • The melanosome: Membrane dynamics in black and white
    • Marks, M.S. and Seabra, M.C. (2001) The melanosome: Membrane dynamics in black and white. Nat. Rev. Mol. Cell Biol., 2, 738-748.
    • (2001) Nat. Rev. Mol. Cell Biol. , vol.2 , pp. 738-748
    • Marks, M.S.1    Seabra, M.C.2
  • 10
    • 0028786945 scopus 로고
    • Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans
    • Valverde, P., Healy, E., Jackson, I., Rees, J.L. and Thody, A.J. (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat. Genet., 11, 328-330.
    • (1995) Nat. Genet. , vol.11 , pp. 328-330
    • Valverde, P.1    Healy, E.2    Jackson, I.3    Rees, J.L.4    Thody, A.J.5
  • 11
    • 0030782275 scopus 로고    scopus 로고
    • Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
    • Box, N.F., Wyeth, J.R., Ogorman, L.E., Martin, N.G. and Sturm, R.A. (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.F.1    Wyeth, J.R.2    Ogorman, L.E.3    Martin, N.G.4    Sturm, R.A.5
  • 15
    • 0345084470 scopus 로고    scopus 로고
    • Human pigmentation phenotype: A point mutation generates nonfunctional MSH receptor
    • Frandberg, P.A., Doufexis, M., Kapas, S. and Chhajlani, V. (1998) Human pigmentation phenotype: A point mutation generates nonfunctional MSH receptor. Biochem. Biophys. Res. Commun., 245, 490-492.
    • (1998) Biochem. Biophys. Res. Commun. , vol.245 , pp. 490-492
    • Frandberg, P.A.1    Doufexis, M.2    Kapas, S.3    Chhajlani, V.4
  • 19
    • 26444515399 scopus 로고    scopus 로고
    • Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells
    • in press
    • Newton, R.A., Smit, S.E., Barnes, C.C., Pedley, J., Parsons, P.G. and Sturm, R.A. (2004) Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells. Peptides, in press.
    • (2004) Peptides
    • Newton, R.A.1    Smit, S.E.2    Barnes, C.C.3    Pedley, J.4    Parsons, P.G.5    Sturm, R.A.6
  • 20
    • 0024407943 scopus 로고
    • Characterization of receptors for alpha-melanocyte-stimulating hormone on human melanoma cells
    • Siegrist, W., Solca, F., Stutz, S., Giuffre, L., Carrel, S., Girard, J. and Eberle, A.N. (1989) Characterization of receptors for alpha-melanocyte-stimulating hormone on human melanoma cells. Cancer Res., 49, 6352-6358.
    • (1989) Cancer Res. , vol.49 , pp. 6352-6358
    • Siegrist, W.1    Solca, F.2    Stutz, S.3    Giuffre, L.4    Carrel, S.5    Girard, J.6    Eberle, A.N.7
  • 22
    • 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., Klovins, J., Rudzish, R., Phillips, S., Rees, J.L. and Schioth, H.B. (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    Rudzish, R.3    Phillips, S.4    Rees, J.L.5    Schioth, H.B.6
  • 23
    • 0035101820 scopus 로고    scopus 로고
    • Evolving concepts in G protein-coupled receptor endocytosis: The role in receptor desensitization and signaling
    • Ferguson, S.S. (2001) Evolving concepts in G protein-coupled receptor endocytosis: The role in receptor desensitization and signaling. Pharmacol. Rev., 53, 1-24.
    • (2001) Pharmacol. Rev. , vol.53 , pp. 1-24
    • Ferguson, S.S.1
  • 24
    • 0038413866 scopus 로고    scopus 로고
    • Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: Pigmentation marker, ultrastructural and UV-survival studies
    • Leonard, J.H., Marks, L.H., Chen, W., Cook, A.L., Boyle, G.M., Smit, D.J., Brown, D.L., Stow, J.L., Parsons, P.G. and Sturm, R.A. (2003) Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: Pigmentation marker, ultrastructural and UV-survival studies. Pigment Cell Res., 16, 198-207.
    • (2003) Pigment Cell Res. , vol.16 , pp. 198-207
    • Leonard, J.H.1    Marks, L.H.2    Chen, W.3    Cook, A.L.4    Boyle, G.M.5    Smit, D.J.6    Brown, D.L.7    Stow, J.L.8    Parsons, P.G.9    Sturm, R.A.10
  • 25
    • 0037079229 scopus 로고    scopus 로고
    • Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix
    • Robinson, S.J. and Healy, E. (2002) Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix. Oncogene, 21, 8037-8046.
    • (2002) Oncogene , vol.21 , pp. 8037-8046
    • Robinson, S.J.1    Healy, E.2
  • 26
    • 0028356398 scopus 로고
    • Homologous and heterologous regulation of alpha-melanocyte-stimulating hormone receptors in human and mouse melanoma cell lines
    • Siegrist, W., Stutz, S. and Eberle, A.N. (1994) Homologous and heterologous regulation of alpha-melanocyte-stimulating hormone receptors in human and mouse melanoma cell lines. Cancer Res., 54, 2604-2610.
    • (1994) Cancer Res. , vol.54 , pp. 2604-2610
    • Siegrist, W.1    Stutz, S.2    Eberle, A.N.3
  • 28
    • 0037713158 scopus 로고    scopus 로고
    • Significance of the melanocortin 1 receptor in regulating human melanocyte pigmentation, proliferation, and survival
    • Kadekaro, A.L., Kanto, H., Kavanagh, R. and Abdel-Malek, Z.A. (2003) Significance of the melanocortin 1 receptor in regulating human melanocyte pigmentation, proliferation, and survival. Ann. NY Acad. Sci., 994, 359-365.
    • (2003) Ann. NY Acad. Sci. , vol.994 , pp. 359-365
    • Kadekaro, A.L.1    Kanto, H.2    Kavanagh, R.3    Abdel-Malek, Z.A.4
  • 30
    • 0030340912 scopus 로고    scopus 로고
    • Val92Met variant of the melanocyte stimulating hormone receptor gene
    • Xu, X., Thornwall, M., Lundin, L.G. and Chhajlani, V. (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    Lundin, L.G.3    Chhajlani, V.4
  • 31
    • 0031012096 scopus 로고    scopus 로고
    • Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects
    • Koppula, S.V., Robbins, L.S., Lu, D., Baack, E., White, C.R., Jr, Swanson, N.A. and Cone, R.D. (1997) Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects. Hum. Mutat., 9, 30-36.
    • (1997) Hum. Mutat. , 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
  • 32
    • 0030293901 scopus 로고    scopus 로고
    • Binding and internalization of the melanocyte stimulating hormone receptor ligand [N1e4, D-Phe7] alpha-MSH in B16 melanoma cells
    • Wong, W. and Minchin, R.F. (1996) Binding and internalization of the melanocyte stimulating hormone receptor ligand [N1e4, D-Phe7] alpha-MSH in B16 melanoma cells. Int J. Biochem. Cell Biol., 28, 1223-1232.
    • (1996) Int J. Biochem. Cell Biol. , vol.28 , pp. 1223-1232
    • Wong, W.1    Minchin, R.F.2
  • 33
    • 0030029894 scopus 로고    scopus 로고
    • Protein trafficking and polarity in kidney epithelium: From cell biology to physiology
    • Brown, D. and Stow, J.L. (1996) Protein trafficking and polarity in kidney epithelium: From cell biology to physiology. Physiol. Rev., 76, 245-297.
    • (1996) Physiol. Rev. , vol.76 , pp. 245-297
    • Brown, D.1    Stow, J.L.2
  • 34
    • 0036174898 scopus 로고    scopus 로고
    • G protein-coupled receptor interacting proteins: Emerging roles in localization and signal transduction
    • Brady, A.E. and Limbird, L.E. (2002) G protein-coupled receptor interacting proteins: Emerging roles in localization and signal transduction. Cell. Signal., 14, 297-309.
    • (2002) Cell. Signal. , vol.14 , pp. 297-309
    • Brady, A.E.1    Limbird, L.E.2
  • 35
    • 8844270180 scopus 로고    scopus 로고
    • RTP family members induce functional expression of mammalian odorant receptors
    • Saito, H., Kubota, M., Roberts, R.W., Chi, Q. and Matsunami, H. (2004) RTP family members induce functional expression of mammalian odorant receptors. Cell, 119, 679-691.
    • (2004) Cell , vol.119 , pp. 679-691
    • Saito, H.1    Kubota, M.2    Roberts, R.W.3    Chi, Q.4    Matsunami, H.5
  • 38
    • 0031972413 scopus 로고    scopus 로고
    • The molecular basis of nephrogenic diabetes insipidus
    • Oksche, A. and Rosenthal, W. (1998) The molecular basis of nephrogenic diabetes insipidus. J. Mol. Med., 76, 326-337.
    • (1998) J. Mol. Med. , vol.76 , pp. 326-337
    • Oksche, A.1    Rosenthal, W.2
  • 39
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh, M.J. and Smith, A.E. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell, 73, 1251-1254.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 41
    • 0037927578 scopus 로고    scopus 로고
    • Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity
    • Nijenhuis, W.A., Garner, K.M., van Rozen, R.J. and Adan, R.A. (2003) Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. J. Biol. Chem., 278, 22939-22945.
    • (2003) J. Biol. Chem. , vol.278 , pp. 22939-22945
    • Nijenhuis, W.A.1    Garner, K.M.2    van Rozen, R.J.3    Adan, R.A.4
  • 43
    • 0037341511 scopus 로고    scopus 로고
    • Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms
    • Yeo, G.S., Lank, E.J., Farooqi, I.S., Keogh, J., Challis, B.G. and O'Rahilly, S. (2003) Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Hum. Mol. Genet., 12, 561-574.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 561-574
    • Yeo, G.S.1    Lank, E.J.2    Farooqi, I.S.3    Keogh, J.4    Challis, B.G.5    O'Rahilly, S.6
  • 44
    • 0141450537 scopus 로고    scopus 로고
    • Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity
    • Tao, Y.X. and Segaloff, D.L. (2003) Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity. Endocrinology, 144, 4544-4551.
    • (2003) Endocrinology , vol.144 , pp. 4544-4551
    • Tao, Y.X.1    Segaloff, D.L.2
  • 45
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
    • Sung, C.H., Davenport, C.M. and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. J. Biol. Chem., 268, 26645-26649.
    • (1993) J. Biol. Chem. , vol.268 , pp. 26645-26649
    • Sung, C.H.1    Davenport, C.M.2    Nathans, J.3
  • 46
    • 0035933872 scopus 로고    scopus 로고
    • A dileucine motif targets E-cadherin to the basolateral cell surface in Madin-Darby canine kidney and LLC-PK1 epithelial cells
    • Miranda, K.C., Khromykh, T., Christy, P., Le, T.L., Gottardi, C.J., Yap, A.S., Stow, J.L. and Teasdale, R.D. (2001) A dileucine motif targets E-cadherin to the basolateral cell surface in Madin-Darby canine kidney and LLC-PK1 epithelial cells. J. Biol. Chem., 276, 22565-22572.
    • (2001) J. Biol. Chem. , vol.276 , pp. 22565-22572
    • Miranda, K.C.1    Khromykh, T.2    Christy, P.3    Le, T.L.4    Gottardi, C.J.5    Yap, A.S.6    Stow, J.L.7    Teasdale, R.D.8
  • 47
    • 0028866929 scopus 로고
    • Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus
    • Tsukaguchi, H., Matsubara, H., Taketani, S., Mori, Y., Seido, T. and Inada, M. (1995) Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J. Clin. Invest., 96, 2043-2050.
    • (1995) J. Clin. Invest. , vol.96 , pp. 2043-2050
    • Tsukaguchi, H.1    Matsubara, H.2    Taketani, S.3    Mori, Y.4    Seido, T.5    Inada, M.6
  • 48
    • 0031475025 scopus 로고    scopus 로고
    • Mutations of the conserved DRS motif in the second intracellular loop of the gonadotropin-releasing hormone receptor affect expression, activation, and internalization
    • Arora, K.K., Cheng, Z. and Catt, K.J. (1997) Mutations of the conserved DRS motif in the second intracellular loop of the gonadotropin-releasing hormone receptor affect expression, activation, and internalization. Mol. Endocrinol., 11, 1203-1212.
    • (1997) Mol. Endocrinol. , vol.11 , pp. 1203-1212
    • Arora, K.K.1    Cheng, Z.2    Catt, K.J.3
  • 50
    • 0033669729 scopus 로고    scopus 로고
    • Impaired resensitization and recycling of the cholecystokinin receptor by co-expression of its second intracellular loop
    • Ding, X.Q., Rao, R.V., Kuntz, S.M., Holicky, E.L. and Miller, L.J. (2000) Impaired resensitization and recycling of the cholecystokinin receptor by co-expression of its second intracellular loop. Mol. Pharmacol., 58, 1424-1433.
    • (2000) Mol. Pharmacol. , vol.58 , pp. 1424-1433
    • Ding, X.Q.1    Rao, R.V.2    Kuntz, S.M.3    Holicky, E.L.4    Miller, L.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.