Agonist-independent, high constitutive activity of the human melanocortin 1 receptor

Pigment Cell Research

Volumn 17, Issue 4, 2004, Pages 386-395

  Sanchez Más, Jesús ^a   Hahmann, Christa ^a   Gerritsen, Ineke ^a   Garcia Borrón, José C ^a   Jiménez Cervantes, Celia ^a,b  

^a UNIVERSITY OF MURCIA   (Spain)

^b UNIVERSITY OF MURCIA   (Spain)

Author keywords

Melanocyte stimulating hormone; Constitutive activity; G protein coupled receptor; Melanocortin 1 receptor; Melanocortins; Melanocytes

Indexed keywords

ADENYLATE CYCLASE; AGOUTI RELATED PROTEIN; ALPHA INTERMEDIN; CORTICOTROPIN; CYCLIC AMP; FORSKOLIN; G PROTEIN COUPLED RECEPTOR; MELANOCORTIN 1 RECEPTOR;

ALLELE; ANIMAL CELL; ARTICLE; CANCER CELL; CANCER RISK; CONTROLLED STUDY; EPIDERMIS; FEMALE; GENE FUNCTION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; LENTIGO; MELANOCYTE; MELANOGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PROTEIN EXPRESSION; RECEPTOR INTRINSIC ACTIVITY; SIGNAL TRANSDUCTION; SKIN CANCER; SKIN PIGMENTATION; WILD TYPE;

ADENYLATE CYCLASE; ANIMALS; BASE SEQUENCE; CELL LINE, TUMOR; CYCLIC AMP; FEMALE; GENETIC VECTORS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; PLASMIDS; RECEPTOR, MELANOCORTIN, TYPE 1; TRANSFECTION; UP-REGULATION;

AGOUTI; ANIMALIA; MAMMALIA;

EID: 3342984722     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0749.2004.00160.x     Document Type: Article

References (45)

1. Bennett DC, Lamoreux ML. The color loci of mice-a genetic century. Pigment Cell Res 2003;16:333-344
2. Ranadive NS, Shirwadkar S, Persad S, Menon IA. Effects of melanin-induced free radicals on the isolated rat peritoneal mast cells. J Invest Dermatol 1986;3:303-307
3. Busca R, Ballotti R. Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 2001;13:60-69
4. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. The cloning of a family of genes that encode the melanocortin receptors. Science 1992;257:1248-1251
5. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, Cone RD. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993;72:827-834
6. Suzuki I, Tada A, Ollmann MM, Barsh GS, Im S, Lamoreux ML, Hearing VJ, Nordlund JJ, Abdel-Malek Z. Agouti signalling protein inhibits melanogenesis and the response of human melanocytes to α-melanotropin. J Invest Dermatol 1997;108:838-842
7. Abdel-Malek Z, Scott MC, Furumura M, Lamoreux ML, Ollmann M, Barsh GS, Hearing VJ. The melanocortin 1 receptor is the principal mediator of the effects of agouti signalling protein on mammalian melanocytes. J Cell Sci 2001;114:1019-1024
8. Siegrist W, Drozdz R, Cotti R, Willard DH, Wilkison WO, Eberle AN. Interactions of alpha-melanotropin and agouti on B16 melanoma cells: evidence for inverse agonism of agouti. J Recept Signal Transduct Res 1997;17:75-98
9. Sajai C, Ollmann M, Kobayashi T, Abdel-Malek Z, Muller J, Vieira WD, Imokawa G, Barsh GS, Hearing VJ. Modulation of murine melanocyte function in vitro by agouti signal protein. EMBO J 1997;16:3544-3552
10. Graham A, Wakamatsu K, Hunt G, Ito S, Thody AJ. Agouti protein inhibits the production of eumelanin and phaeomelaninin in the presence and absence of α-melanocyte stimulating hormone. Pigment Cell Res 1997;10:298-303
11. Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA. Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genet 1997;6:1891-1897
12. Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, Rogers S, Turner R, Jackson IJ, Birch-Machin MA, Rees JL. Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 1998;111:119-122
13. Schiöth HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JES, Rees JL. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun 1999;260:488-491
14. Sturm RA. Skin colour and skin cancer-MC1R, the genetic link. Melanoma Res 2002;12:1-12
15. Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer B-J, Bouwes Bavinck J-N. The melanocortin-1-receptor gene is the major freckle gene. Hum Mol Genet 2001;10:1701-1708
16. Sturm RA, Duffy DL, Box NF, Chen W, Smit DJ, Brown DL, Stow JL, Leonard JH, Martin NG. The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res 2003;16:266-272
17. Valverde P, Healy E, Sikkink S, Haldane F, Thody AJ, Carothers A, Jackson IJ, Rees JL. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 1996;5:1663-1666
18. Bastiaens MT, ter Huurne JAC, Kielich C, Gruis NA, Westendorp RGJ, Vermeer BJ, Bouwes Bavinck NB. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet 2001;68:884-894
19. Abdel-Malek Z, Sukuki I, Tada A, Im S, Akcali C. Cutaneous neuroimmunomodulation. In: Luger TA, Paus R, Lipton JM, Slominski AT, eds. The Proopiomelanocortin System, Vol. 885. New York: Annals New York Acadamy Science; 1999. pp. 117-133
20. Siegrist W, Solca F, Stutz S, Giuffré L, Carrel S, Girard J, Eberle AN. Characterization of receptors for α-melanocyte-stimulating hormone on human melanoma cells. Cancer Res 1989;49:6352-6358
21. Ghanem GE, Comunale G, Libert A, Vercammen-Grandjean A, Lejeune FJ. Evidence for alpha-melanocyte-stimulating hormone (alpha-MSH) receptors on human malignant melanoma cells. Int J Cancer 1988;41:248-255
22. Mountjoy KG. The human melanocyte stimulating hormone receptor has evolved to become "super-sensitive" to melanocortin peptides. Mol Cell Endocrinol 1994, 102:R7-R11
23. Lefkowitz RJ, Cotecchia S, Samama P, Costa T. Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins. Trends Pharmacol Sci 1993;14:303-307
24. Parnot C, Miserey-Lenkei S, Bardin S, Corvol P, Clauser E. Lessons from constitutively active mutants of G protein-coupled receptors. Trends Endocrinology Metab 2002;13:336-343
25. Seifert R, Wenzel-Seifert K. Constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild-type receptors. Naunyn-Schmiedeberg's Arch Pharmacol 2002;366: 381-416
26. Chen G, Way J, Armour S, Watson C, Queen K, Jayawickreme CK, Chen W-J, Kenakin T. Use of constitutive G protein-coupled receptor activity for drug discovery. Mol Pharmacol 2000;57:125-134
27. Kenakin T. Inverse, protean, and ligand-selective agonism: matters of receptor conformation. FASEB J 2001;15:598-611
28. Chluba-de Tapia J, Bagutti C, Cotti R, Eberle AN. Induction of constitutive melanogenesis in amelanotic mouse melanoma cells by transfection of the human melanocortin-1 receptor gene. J Cell Sci 1996;109:2023-2030
29. Healy E, Jordan SA, Budd PS, Suffolk R, Rees JL, Jackson IJ. Functional variation of MC1R alleles from red-haired individuals. Hum Mol Genet 2001, 10:2397-2402
30. Alewijnse AE, Smit MJ, Rodriguez Pena MS, Verzijl D, Timmerman H, Leurs R. Modulation of forskolin-mediated adenylyl cyclase activation by constitutively active Gs-coupled receptors. FEBS Lett 1997;419:171-174
31. Jiménez-Cervantes C, Olivares C, González P, Morandini R, Ghanem G, García-Borrón JC. The Pro162 variant is a loss-of-function mutation of the human melanocortin I receptor gene. J Invest Dermatol 2001;117:156-158
32. Sánchez Más J, Olivares C, Ghanem G, Haycock J, Lozano Teruel JA, García-Borrón JC, Jiménez-Cervantes C. Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function. Eur J Biochem 2002;269:6133-6141
33. Jiménez-Cervantes C, Germer S, González P, Sánchez J, Olivares C, García-Borrón JC. Ile40 and Met122 are partial loss-of-function mutations of the human melanocortin I receptor associated with light skin. FEBS Lett 2001;508:44-48
34. Sánchez Más J, Gerritsen I, Hahmann C, Jiménez- Cervantes C, García-Borrón JC. Rate-limiting factors in melanocortin-I receptor signalling through the cAMP pathway. Pigment Cell Res 2003;16:540-547
35. 7]melanocyte stimulating hormone with the human melanocortin-1 receptor (melanocyte α-MSH receptor). J Biol Chem 1997;272:23000-23010
36. Eggerickx D, Denef JF, Labbe O, Hayashi Y, Refetoff S, Vassart G, Parmentier M, Libert F. Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase. Biochem J 1995;309:837-843
37. Sutkowski EM, Tang WJ, Broome CW, Robbins JD, Seamon KB. Regulation of forskolin interactions with type I, II, V and VI adenylyl cyclases by Gs alpha. Biochemistry 1994;33:12852-12859
38. Loir B, Bouchard B, Morandini R, del Mármol V, Deraemaeker R, García-Borrón JC, Ghanem G. Immunoreactive α-melanotropin as an autocrine effector in human melanoma cells. Eur J Biochem 1997;244:923-930
39. Scott MC, Wakamatsu K, Ito S, Kadekaro AL, Kobayashi N, Groden J, Kavanagh R, Takakuwa T, Virador V, Hearing VJ, Abdel-Malek ZA. Human melanocortin 1 receptor variants, receptor function and melanocytes response to UV radiation. J Cell Sci 2002;115:2349-2355
40. Smith AG, Box NF, Marks LH, Chen W, Smit DJ, Wyeth JR, Huttley GA, Easteal S, Sturm RA. The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution. Gene 2001;281:81-94
41. Nijenhuis WA, Oosterom J, Adan RA. AgRP (83-132) acts as an inverse agonist on the human melanocortin-4 receptor. Mol Endocrinol 2001;15:164-171
42. Wakamatsu K, Graham A, Cook D, Thody AJ. Characterization of ACTH peptides in human skin and their activation of the melanocortin-1 receptor. Pigment Cell Res 1997;10:288-297
43. Lu D, Vage DI, Cone RD. A ligand-mimetic model for constitutive activation of the melanocortin-1 receptor. Mol Endocrinol 1998;12:592-604
44. Scott MC, Suzuki I, Abdel-Malek ZA. Regulation of the human melanocortin 1 receptor expression in epidermal melanocytes by paracrine and endocrine factors and by ultraviolet radiation. Pigment Cell Res 2002;15:433-439
45. Krude H, Biebermann H, Luck W, Horn R, Grüters A. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nature Genetics 1998;19:155-157