Mechanisms underlying the dysfunction of melanocytes in vitiligo epidermis: Role of SCF/KIT protein interactions and the downstream effector, MITF-M

Journal of Pathology

Volumn 202, Issue 4, 2004, Pages 463-475

  Kitamura, Reiko ^a   Tsukamoto, Katsuhiko ^a,b   Harada, Kazutoshi ^a   Shimizu, Akira ^a   Shimada, Shinji ^a   Kobayashi, Takeshi ^c,d   Imokawa, Genji ^c  

^a UNIVERSITY OF YAMANASHI   (Japan)

^b Yamanashi Prefectural Agricultural Research Center   (Japan)

^c Kao Biological Science Laboratories   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

c kit; Hypopigmentation; Melanocytes; MITF M; Stem cell factor; Vitiligo

Indexed keywords

CELL MARKER; CYTOKINE; CYTOKINE RECEPTOR; ENDOTHELIN 1; ENDOTHELIN RECEPTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; MONOPHENOL MONOOXYGENASE; POLYCLONAL ANTIBODY; PROTEIN S 100; STEM CELL FACTOR; STEM CELL FACTOR RECEPTOR; TRANSCRIPTION FACTOR;

ADULT; AGED; ARTICLE; CELL COUNT; CELL FUNCTION; CELL LOSS; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; FEMALE; HUMAN; HUMAN TISSUE; HYPOTHESIS; IMMUNOHISTOCHEMISTRY; MALE; MELANOCYTE; MOLECULAR MECHANICS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; UPREGULATION; VITILIGO; WESTERN BLOTTING;

ADULT; AGED; ANTIBODY SPECIFICITY; BLOTTING, WESTERN; DNA-BINDING PROTEINS; ENDOTHELIN-1; EPIDERMIS; FEMALE; GENE EXPRESSION; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HUMANS; MALE; MELANOCYTES; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MIDDLE AGED; ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, ENDOTHELIN A; RNA, MESSENGER; STEM CELL FACTOR; TRANSCRIPTION FACTORS; VITILIGO;

EID: 1842531279     PISSN: 00223417     EISSN: None     Source Type: Journal    
DOI: 10.1002/path.1538     Document Type: Article

References (46)

1. Nordlund JJ, Ortonne JP. Vitiligo vulgaris. In The Pigmentary System. Physiology and Pathophysiology, Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne JP (eds). Oxford University Press: New York, 1998; 513-551.
2. Imokawa G, Yada Y, Miyagishi M. Endothelins secreted from human keratinocytes are intrinsic mitogens for human melanocytes. J Biol Chem 1992; 267: 24 675-24 680.
3. Imokawa G, Miyagishi M, Yada Y. Endothelin-1 as a new melanogen: Coordinated expression of its gene and the tyrosinase gene in UVB-exposed human epidermis. J Invest Dermatol 1995; 105: 32-37.
4. Imokawa G, Yada Y, Kimura M. Signaling mechanisms of endothelin-induced mitogenesis and melanogenesis in human melanocytes. Biochem J 1996; 314: 305-312.
5. Teraki E, Tajima S, Manaka I, Kawashima M, Miyagishi M, Imokawa G. Role of endothelin-1 in hyperpigmentation in seborrhoeic keratosis. Br J Dermatol 1996; 135: 918-923.
6. Manaka I, Kadono S, Kawashima M, Kobayashi T, Imokawa G. The mechanism of hyperpigmentation in seborrhoeic keratosis involves the high expression of endothelin-converting enzyme-1a and TNF-a, which stimulate secretion of endothelin 1. Br J Dermatol 2001; 145: 895-903.
7. Hachiya A, Kobayashi A, Ohuchi A, Takema Y, Imokawa G. The paracrine role of stem cell factor/c-kit signaling in the activation of human melanocytes in ultraviolet B-induced pigmentation. J Invest Dermatol 2001; 116: 578-586.
8. Kadono S, Manaka I, Kawashima M, Kobayashi T, Imokawa G. The role of the epidermal endothelin cascade in the hyperpigmentation mechanism of lentigo senilis. J Invest Dermatol 2001; 116: 571-577.
9. Hattori H, Kawashima M, Ichikawa M, Imokawa G. The epidermal stem cell factor is over-expressed in lentigo senilis: Implication for the mechanism of hyperpigmentation. J Invest Dermatol 2004 (in press).
10. Imokawa G, Yada Y, Kimura M, Morisaki N. Granulocyte/macrophage colony stimulating factor is an intrinsic keratinocyte-derived growth factor for human melanocytes in UVA-induced melanosis. Biochem J 1996; 313: 625-631.
11. Shishido E, Kadono S, Manaka I, Kawashima M, Imokawa G. The mechanism of epidermal hyperpigmentation in dermatofibroma is associated with stem cell factor and hepatocyte growth factor expression. J Invest Dermatol 2001; 117: 627-633.
12. Fuse N, Yasumoto K, Suzuki H, Takahashi K, Shibahara S. Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun 1996; 219: 702-707.
13. Nakamura M, Takayanagi R, Sakai Y, et al. Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor. Biochem Biophys Res Commun 1991; 177: 34-39.
14. Ogawa Y, Nakao K, Arai H, et al. Molecular cloning of a nonisopeptide-selective human endothelin receptor. Biochem Biophys Res Commun 1991; 178: 248-255.
15. Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H, Masaki T. Cloning and functional expression of human cDNA for the ETB endothelin receptor. Biochem Biophys Res Commun 1991; 178: 656-663.
16. Fuse N, Yasumoto K, Takeda K, et al. Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. J Biochem (Tokyo) 1999; 126: 1043-1051.
17. Mizutani H, Hayashi T, Nouchi N, et al. Functional and immuno-reactive thrombomodulin expressed by keratinocytes. J Invest Dermatol 1994; 103: 825-828.
18. Hou L, Panthier JJ, Arnheiter H. Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: Interactions between KIT and MITF. Development 2000; 127: 5379-5389.
19. Mochii M, Mazaki Y, Mizuno N, Hayashi H, Eguchi G. Role of Mitf in differentiation and transdifferentiation of chicken pigmented epithelial cell. Dev Biol 1998; 193: 47-62.
20. Udono T, Yasumoto K, Takeda K, et al. Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters. Biochim Biophys Acta 2000; 1491: 205-219.
21. Takeda K, Yasumoto K, Kawaguchi N, et al. Mitf-D, a newly identified isoform, expressed in the retinal pigment epithelium and monocyte-lineage cells affected by Mitf mutations. Biochim Biophys Acta 2002; 1574: 15-23.
22. Oboki K, Morii E, Kataoka TR, Jippo T, Kitamura Y. Isoforms of mi transcription factor preferentially expressed in cultured mast cells of mice. Biochem Biophys Res Commun 2002; 290: 1250-1254.
23. Amae S, Fuse N, Yasumoto K, et al. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun 1998; 247: 710-715.
24. Tobin DJ, Swanson NN, Pittelkow MR, Peters EM, Schallreuter KU. Melanocytes are not absent in lesional skin of long duration vitiligo. J Pathol 2000; 191: 407-416.
25. Hann SK, Nordlund JJ. Vitiligo. Blackwell Science: Oxford, 2000.
26. van den Wijngaard R, Wankowicz-Kalinska A, Pals S, Weening J, Das P. Autoimmune melanocyte destruction in vitiligo. Lab Invest 2001; 81: 1061-1067.
27. Schallreuter KU, Wood JM, Berger J. Low catalase levels in the epidermis of patients with vitiligo. J Invest Dermatol 1991; 97: 1081-1085.
28. Maresca V, Roccella M, Roccella F, et al. Increased sensitivity to peroxidative agents as a possible pathogenic factor of melanocyte damage in vitiligo. J Invest Dermatol 1997; 109: 310-313.
29. Passi S, Gandinetti M, Maggio F, Stancato A, De Luca C. Epidermal oxidative stress in vitiligo. Pigment Cell Res 1998; 11: 81-85.
30. Moretti S, Spallanzani A, Amato L, et al. New insights into the pathogenesis of vitiligo: Imbalance of epidermal cytokines at sites of lesions. Pigment Cell Res 2002; 15: 87-92.
31. Giebel LB, Spritz RA. Mutation of the KIT (mast/stem-cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA 1991; 88: 8696-8699.
32. Ezoe K, Holmes SA, Ho L, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet 1995; 56: 58-66.
33. Baynash AG, Hosoda K, Giaid A, et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 1994; 79: 1277-1285.
34. Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994; 79: 1257-1266.
35. Williams DE, Eisenman J, Baird A, et al. Identification of a ligand for the c-kit proto-oncogene. Cell 1990; 63: 167-174.
36. Flanfan JG, Leder P. The kit ligand: A cell surface molecule altered in steel mutant fibroblasts. Cell 1990; 63: 185-194.
37. Zsebo KM, Williams DA, Geissler EN, et al. Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 1990; 63: 213-224.
38. Norris A, Todd C, Graham A, Quinn AG, Thody AJ. The expression of the c-kit receptor by epidermal melanocytes may be reduced in vitiligo. Br J Dermatol 1996; 134: 299-306.
39. Hemesath TJ, Price ER, Takemoto C, Badalian T, Fisher DE. MAP kinase links the transcription factor microphthalmia to c-Kit signalling in melanocytes. Nature 1998; 391: 298-301.
40. Tachibana M, Takeda K, Nobukuni Y, et al. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nature Genet 1996; 14: 50-54.
41. Wu M, Hemesath TJ, Takemoto CM, et al. c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev 2000; 14: 301-312.
42. Xu W, Gong L, Haddad MM, et al. Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin conjugating enzyme hUBC9. Exp Cell Res 2000; 255: 135-143.
43. McGill GG, Horstmann M, Widlund HR, et al. Bc12 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell 2002; 109: 707-718.
44. Tsujimura T, Morii E, Nozaki M, et al. Involvement of transcription factor encoded by the mi locus in the expression of c-kit receptor tyrosine kinase in cultured mast cells of mice. Blood 1996; 88: 1225-1233.
45. Feng HL, Sandlow JI, Sparks AE, Sandra A, Zheng LJ. Decreased expression of the c-kit receptor is associated with increased apoptosis in subfertile human testes. Fertil Steril 1999; 71: 85-89.
46. Jimenez-Cervantes C, Martinez-Esparza M, Perez C, Daum N, Solano F, Garcia-Borron JC. Inhibition of melanogenesis in response to oxidative stress: Transient downregulation of melanocyte differentiation markers and possible involvement of microphthalmia transcription factor. J Cell Sci 2001; 114: 2335-2344.