Role of neurofibromin in modulation of expression of the tyrosinase-related protein 2 gene

Journal of Biochemistry

Volumn 124, Issue 5, 1998, Pages 992-998

  Suzuki, Hiroyuki ^a,b   Takahashi, Kazuhiro ^a   Yasumoto, Ken Ichi ^a   Amae, Shintaro ^a   Yoshizawa, Miki ^a   Fuse, Nobuo ^a   Shibahara, Shigeki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Niigata Women's College   (Japan)

Author keywords

Gene transcription; Melanin; Melanocyte; Neurofibromatosis; Tyrosinase related protein 2

Indexed keywords

DOPACHROME TAUTOMERASE; GLUTAMIC ACID; INDOLE DERIVATIVE; LYSINE; MELANIN; MESSENGER RNA; MONOPHENOL MONOOXYGENASE; NEUROFIBROMIN;

AMINO ACID SUBSTITUTION; ARTICLE; CELL PROTECTION; CONTROLLED STUDY; GENE EXPRESSION REGULATION; GLIOBLASTOMA; HUMAN; HUMAN TISSUE; MELANOGENESIS; NEUROFIBROMATOSIS; PROMOTER REGION; REPORTER GENE; SKIN PIGMENTATION;

EID: 0031726116     PISSN: 0021924X     EISSN: None     Source Type: Journal    
DOI: 10.1093/oxfordjournals.jbchem.a022218     Document Type: Article

References (46)

1. Tripathi, R.K., Hearing, V.J., Urabe, K., Aroca, P., and Spritz, R.A. (1992) Mutational mapping of the catalytic activities of human tyrosinase. J. Biol. Chem. 267, 23707-23712
2. Tsukamoto, K., Jackson, I.J., Urabe, K., Montague, P.M., and Hearing, V.J. (1992) A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase. EMBO J. 11, 519-526
3. Jackson, I.J., Chambers, D.M., Tsukamoto, K., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., and Hearing, V.J. (1992) A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus. EMBO J. 11, 527-535
4. Yokoyama, K., Suzuki, H., Yasumoto, K., Tomita, Y., and Shibahara, S. (1994) Molecular cloning and functional analysis of a cDNA coding for human DOPAchrome tautomerase/tyrosinase-related protein-2. Biochim. Biophys. Acta 1217, 317-321
5. Kroumpouzos, G., Urabe, K., Kobayashi, T., Sakai, C., and Hearing, V.J. (1994) Functional analysis of the slaty gene product (TRP2) as dopachrome tautomerase and the effect of a point mutation on its catalytic function. Biochem. Biophys. Res. Commun. 202, 1060-1068
6. Jiménez-Cervantes, C., Solano, F., Kobayashi, T., Urabe, K., Hearing, V.J., Lozano, J.A., and García-Borrón, J.C. (1994) A new enzymatic function in the melanogenic pathway. J. Biol. Chem. 269, 17993-18001
7. Kobayashi, T., Urabe, K., Winder, A., Jiménez-Cervantes, C., Imokawa, G., Brewington, T., Solano, F., García-Borrón, J.C., and Hearing, V.J. (1994) Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J. 13, 5818-5825
8. Orlow, S.J., Zhou, B.-K., Chakraborty, A.K., Drucker, M., Pifko-Hirst, S., and Pawelek, J.M. (1994) High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: Evidence for a melanogenic complex. J. Invest. Dermatol. 103, 196-201
9. Palumbo, A., Solano, F., Misuraca, G., Aroca, P., García-Borrón, J.C., Lozano, J.A., and Prota, G. (1991) Comparative action of dopachrome tautomerase and metal ions on the rearrangement of dopachrome. Biochim. Biophys. Acta 1115, 1-5
10. Urabe, K., Aroca, P., Tsukamoto, K., Mascagna, D., Palumbo, A., Prota, G., and Hearing, V.J. (1994) The inherent cytotoxicity of melanin precursors: a revision. Biochim. Biophys. Acta 1221, 272-278
11. D'Acquisto, F., Camuccio, R., d'Ischia, M., and Misuraca, G. (1995) 5,6-Dihydroxyindole-2-carboxylic acid, a diffusible melanin precursor, is a potent stimulator of lipopolysaccharide-induced production of nitric oxide by J774 macrophages. Life Sci. 57, 401-406
12. Steel, K.P., Davidson, D.R., and Jackson, L.J. (1992) TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115, 1111-1119
13. Mulvihill, J.J., Parry, D.M., Sherman, J.L., Pikus, A., Kaiser-Kupfer, M.I., and Eldridge, R. (1990) Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis); an update. Ann. Intern. Med. 113, 39-52
14. Buchberg, A.M., Cleaveland, L.S., Jenkins, N.A., and Copeland, N.G. (1990) Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway. Nature 347, 291-294
15. Cawthon, R.M., Weiss, R., Xu, G., Viskochil, D., Culver, M., Stevens, J., Robertson, M., Dunn, D., Gesteland, R., O'Connell, P., and White, R. (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62, 193-201
16. Viskochil, D., Buchberg, A.M., Xu, G., Cawthon, R.M., Stevens, J., Wolff, R.K., Culver, M., Carey, J.C., Copeland, N.G., Jenkins, N.A., White, R., and O'Connell, P. (1990) Deletion and a translocation interrupt a cloned gene at the neuroflbromatosis type 1 locus. Cell 62, 187-192
17. Wallace, M.R., Marchuk, D.A., Andersen, L.B., Letcher, R., Odeh, H.M., Saulino, A.M., Fountain, J.W., Brereton, A., Nicholson, J., Mitchell, A.L., Brownstein, B.H., and Collins, F.S. (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249, 181-186
18. Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M., and Collins, F.S. (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63, 851-859
19. Martin, G.A., Viskochil, D., Bollag, G., McCabe, P.C., Crosier, W.J., Haubruck, H., Conroy, L., Clark, R., O'Connell, P., Cawthon, R.M., Innis, M.A., and McCormick, F. (1990) The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 63, 843-849
20. Xu, G., Lin, B., Tanaka, K., Dunn, D., Wood, D., Gesteland, R., White, R., Weiss, R., and Tamanoi, F. (1990) The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 63, 835-841
21. Johnson, M.R., DeClue, J.E., Felzmann, S., Vass, W.C., Xu, G., White, R., and Lowy, D.E. (1994) Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function. Mol. Cell. Biol. 14, 641-645
22. Suzuki, H., Takahashi, K., Yasumoto, K., and Shibahara, S. (1994) Activation of the tyrosinase gene promoter by neurofibromin. Biochem. Biophys. Res. Commun. 205, 1984-1991
23. Gregory, P.E., Gutmann, D.H., Mitchell, A., Park, S., Boguski, M., Jacks, T., Wood, D.L., Jove, R., and Collins, F.S. (1993) Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules. Somat. Cell Mol. Genet. 19, 265-274
24. Nordlund, M., Gu, X., Shipley, M.T., and Ratner, N. (1993) Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons. J. Neurosci. 13, 1588-1600
25. Suzuki, Y., Suzuki, H., Kayama, T., Yoshimoto, T., and Shibahara, S. (1991) Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem. Biophys. Res. Commun. 181, 955-961
26. Nishi, T., Lee, P.S.Y., Oka, K., Levin, V.A., Tanase, S., Morino, Y., and Saya, H. (1991) Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 6, 1555-1559
27. Suzuki, H., Takahashi, K., Yasumoto, K., Fuse, N., and Shibahara, S. (1996) Differential tissue-specific expression of neurofibromin isoform mRNAs in rat. J. Biochem. 120, 1048-1054
28. Trahey, M., Wong, G., Halenbeck, R., Rubinfeld, B., Martin, G.A., Ladner, M., Long, C.M., Crosier, W.J., Watt, K., Koths, K., and McCormick, F. (1988) Molecular cloning of two types of GAP complementary DNA from human placenta. Science 242, 1697-1700
29. Fujioka, H., Kaibuchi, K., Kishi, K., Yamamoto, T., Kawamura, M., Sakoda, T., Mizuno, T., and Takai, Y. (1992) Transformation and c-fos promoter/enhancer-stimulating activities of a stimulatory GDP/GTP exchange protein for small GTP-binding proteins. J. Biol. Chem. 267, 926-930
30. Hirai, S., Izumi, Y., Higa, K., Kaibuchi, K., Mizuno, K., Osada, S., Suzuki, K., and Ohno, S. (1994) Ras-dependent signal transduction is indistinguishable but not sufficient for the activation of AP1/Jun by PKCδ. EMBO J. 13, 2331-2340
31. Shibata, K., Muraosa, Y., Tomita, Y., Tagami, H., and Shibahara, S. (1992) Identification of a cis-acting element that enhances the pigment cell-specific expression of the human tyrosinase gene. J. Biol. Chem. 267, 20584-20588
32. de Wet, J.R., Wood, K.V., DeLuca, M., Helinski, D.R., and Subramani, S. (1987) Firefly luciferase gene: structure and expression in mammalian cells. Mol. Cell. Biol. 7, 725-737
33. Yokoyama, K., Yasumoto, K., Suzuki, H., and Shibahara, S. (1994) Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression. J. Biol. Chem. 269, 27080-27087
34. Yasumoto, K., Yokoyama, K., Shibata, K., Tomita, Y., and Shibahara, S. (1994) Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol. Cell. Biol. 14, 8058-8070
35. Yasumoto, K., Mahalingam, H., Suzuki, H., Yoshizawa, M., Yokoyama, K., and Shibahara, S. (1995) Transcriptional activation of the melanocyte-specific genes by the human homolog of the mouse microphthalmia protein. J. Biochem. 118, 874-881
36. Deng, W.P. and Nickoloff, J.A. (1992) Site-directed mutagenesis of virtually any plasmid by eliminating a unique site. Anal. Biochem. 200, 81-88
37. Takahashi, K., Suzuki, H., Kayama, T., Suzuki, Y., Yoshimoto, T., Sasano, H., and Shibahara, S. (1994) Multiple transcripts of the neurofibromatosis type 1 gene in human brain and in brain tumours. Clin. Sci. 87, 481-485
38. Feinberg, A.P. and Vogelstein, B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132, 6-13
39. Andersen, L.B., Fountain, J.W., Gutmann, D.H., Tarlé, S.A., Glover, T.W., Dracopoli, N.C., Housman, D.E., and Collins, F.S. (1993) Mutation in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nat. Genet. 3, 118-121
40. Yasumoto, K., Yokoyama, K., Takahashi, K., Tomita, Y., and Shibahara, S. (1997) Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J. Biol. Chem. 272, 503-509
41. Li, Y., Bollag, G., Clark, R., Stevens, J., Conroy, L., Fults, D., Ward, K., Friedman, E., Somowits, W., Robertson, M., Bradley, P., McCormick, F., White, R., and Cowthon, R. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69, 275-281
42. Val-19-activated phenotypes. Mol. Cell. Biol. 14, 815-821
43. Kaufmann, D., Wiandt, S., Veser, J., and Krone, W. (1991) Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1). Hum. Genet. 87, 144-150
44. Jimbow, K., Szabo, G., and Fitzpatrick, T.B. (1973) Ultrastructure of giant granules (macromelanosomes) in the cutaneous pigmented macules of neurofibromatosis. J. Invest. Dermatol. 61, 300-309
45. Griesser, J., Kaufmann, D., Eisenbarth, I., Bäuerle, C., and Krone, W. (1995) Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1). Biol. Chem. Hoppe-Seyler376, 91-101
46. Amae, S., Fuse, N., Yasumoto, K., Sato, S., Yajima, I., Yamamoto, H., Udono, T., Durlu, Y.K., Tamai, M., Takahashi, K., and Shibahara, S. (1998) Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem. Biophys. Res. Commun. 247, 710-715