Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein

Genes and Development

Volumn 13, Issue 8, 1999, Pages 978-986

  Giovannini, Marco ^a,b,c   Robanus Maandag, Els ^c   Niwa Kawakita, Michiko ^a,b   Van Der Valk, Martin ^c   Woodruff, James M ^d   Goutebroze, Laurence ^a,b   Mérel, Philippe ^a,c   Berns, Anton ^c   Thomas, Gilles ^a,b  

^a INSERM   (France)

^b Ctr d'Etud du Polymorphisme Humain 27 Rue Juliette Dodu 75010   (France)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Dominant mutant; Neurofibromatosis type 2; Schwann cell tumors; Schwannomin; Transgenic mice; Tumor suppressor gene

Indexed keywords

ANIMAL TISSUE; ARTICLE; GENE MUTATION; MOUSE; NEURINOMA; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHWANN CELL; TRANSGENIC MOUSE; TUMOR SUPPRESSOR GENE;

ANIMALIA; MUS MUSCULUS; RODENTIA;

EID: 0033561026     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.13.8.978     Document Type: Article

References (41)

1. Akagi, K., V. Sandig, M. Vooijs, M. Van der Valk, M. Giovannini, M. Strauss, and A. Berns. 1997. Cre-mediated somatic site-specific recombination in mice. Nucleic Acids Res. 25: 1766-1773.
2. Bianchi, A.B., T. Hara, V. Ramesh, J. Gao, A.J. Klein-Szanto, F. Morin, A.G. Menon, J.A. Trofatter, J.F. Gusella, B.R. Seizinger, and N. Kley. 1994. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat. Genet. 6: 185-192.
3. Bijlsma, E.K., P. Merel, D.A. Bosch, A. Westerveld, O. Delattre, G. Thomas, and T.J. Hulsebos. 1994. Analysis of mutations in the SCH gene in schwannomas. Genes Chromosomes Cancer 11:7-14.
4. Deguen, B., P. Merel, L. Goutebroze, M. Giovannini, H. Reggio, M. Arpin, and G. Thomas. 1998. Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane. Hum. Mol Genet. 7: 217-226.
5. Eldridge, R. 1981. Central neurofibromatosis with bilateral acoustic neuroma. Adv. Neurol. 29: 57-65.
6. Evans, D.G., L. Trueman, A. Wallace, S. Collins, and T. Strachan. 1998. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations. J. Med. Genet. 35: 450-455.
7. Giovannini, M., L. Selleri, J.A. Biegel, K. Scotlandi, B.S. Emanuel, and G.A. Evans. 1992. Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors. J. Clin. Invest. 90: 1911-1918.
8. Gutmann, D.H., R.T. Geist, H. Xu, J.S. Kim, and S. Saporito-Irwin. 1998. Defects in neurofibromatosis 2 protein function can arise at multiple levels. Hum. Mol. Genet. 7: 335-345.
9. Hopman, A.H., E. van Hooren, C.A. van de Kaa, P.G. Vooijs, and F.C. Ramaekers. 1991. Detection of numerical chromosome aberrations using in situ hybridization in paraffin sections of routinely processed bladder cancers. Mod. Pathol. 4: 503-513.
10. Hoshi, N., H. Hiraki, T. Yamaki, T. Natsume, K. Watanabe, and T. Suzuki. 1994. Frequent expression of 75 kDa nerve growth factor receptor and phosphotyrosine in human peripheral nerve tumours: An immunohistochemical study on paraffin-embedded tissues. Virchows Arch. 424: 563-568.
11. Houdeau, E., A. Rousseau, C. Meusnier, M.J. Prud'Homme, and J.P. Rousseau. 1998. Sympathetic innervation of the upper and lower regions of the uterus and cervix in the rat have different origins and routes. J. Comp. Neurol. 399: 403-412.
12. Jacoby, L.B., M. MacCollin, R. Barone, V. Ramesh, and J.F. Gusella. 1996. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer 17: 45-55.
13. Koga, H., N. Araki, H. Takeshima, T. Nishi, T. Hirota, Y. Kimura, M. Nakao, and H. Saya. 1998. Impairment of cell adhesion by expression of the mutant neurofibromatosis type 2 (NF2) genes which lack exons in the ERM-homology domain. Oncogene 17: 801-810.
14. Kreis, T.E. 1986. Microinjected antibodies against the cytoplasmic domain of vesicular stomatitis virus glycoprotein block its transport to the cell surface. EMBO J. 5: 931-941.
15. LaJeunesse, D.R., B.M. McCartney, and R.G. Fehon. 1998. Structural analysis of Drosophila merlin reveals functional domains important for growth control and subcellular localization. J. Cell Biol. 141: 1589-1599.
16. Luongo, C., A.R. Moser, S. Gledhill, and W.F. Dove. 1994. Loss of Apc+ in intestinal adenomas from Min mice. Cancer Res. 54: 5947-5952.
17. McClatchey, A.I., I. Saotome, K. Mercer, D. Crowley, J.F. Gusella, R.T. Bronson, and T. Jacks. 1998. Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes & Dev. 12: 1121-1133.
18. Mahler, J.F., W. Stokes, P.C. Mann, M. Takaoka, and R.R. Maronpot. 1996. Spontaneous lesions in aging FVB/N mice. Toxicol. Pathol. 24: 710-716.
19. Merel, P., H.X. Khe, M. Sanson, E. Bijlsma, G. Rouleau, P. Laurent-Puig, S. Pulst, M. Baser, G. Lenoir, J.M. Sterkers, J. Philippon, F. Resche, V.F. Mautner, G. Fischer, T. Hulsebos, A. Aurias, O. Delattre, and G. Thomas. 1995a. Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer 12: 117-127.
20. Merel, P., K. Haong-Xuan, M. Sanson, A. Moreau-Aubry, E.K. Bijlsma, C. Lazaro, J.P. Moisan, F. Resche, I. Nishisho, X. Estivill, J.Y. Delattre, M. Poisson, C. Theillet, T. Hulsebos, O. Delattre, and G. Thomas. 1995b. Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosomes Cancer 13: 211-216.
21. Messing, A., R.R. Behringer, J.P. Hammang, R.D. Palmiter, R.L. Brinster, and G. Lemke. 1992. P0 promoter directs expression of reporter and toxin genes to Schwann cells of transgenic mice. Neuron 8: 507-520.
22. Moscarini, M., A. Cantagalli, C. Cavallotti, C. De Luca, and F. Amenta. 1982. Cholinergic nerves in mouse uterus. J. Neural Transm. 55: 139-148.
23. Nigro, J.M., S.J. Baker, A.C. Preisinger, J.M. Jessup, R. Hostetter, K. Cleary, S.H. Bigner, N. Davidson, S. Baylin, P. Devilee, T. Glover, F.S. Collins, A. Weston, R. Modali, C.H. Harris, and B. Vogelstein. 1989. Mutations in the p53 gene occur in diverse human tumour types. Nature 342: 705-708.
24. Nishi, T., H. Takeshima, K. Hamada, K. Yoshizato, H. Koga, K. Sato, K. Yamamoto, I. Kitamura, M. Kochi, J.-I. Kuratsu, H. Saya, and Y. Ushio. 1997. Neurofibromatosis 2 gene has novel alternative splicings which control intracellular protein binding. Int. J. Oncol. 10: 1025-1029.
25. Parry, D.M., M.M. MacCollin, M.I. Kaiser-Kupfer, K. Pulaski, H.S. Nicholson, M. Bolesta, R. Eldridge, and J.F. Gusella. 1996. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am. J. Hum. Genet. 59: 529-539.
26. Perosio, P.M. and J.J. Brooks. 1988. Expression of nerve growth factor receptor in paraffin-embedded soft tissue tumors. Am. J. Pathol. 132: 152-160.
27. Rouleau, G.A., P. Merel, M. Lutchman, M. Sanson, J. Zucman, C. Marineau, K. Hoang-Xuan, S. Demczuk, C. Desmaze, B. Plougastel, S.M. Pulst, G. Lenoir, E. Bijlsma, R. Fashold, J. Dumanski, P. de Jong, D. Parry, R. Eldridge, A. Aurias, O. Delattre, and G. Thomas. 1993. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363: 515-521.
28. Ruttledge, M.H., A.A. Andermann, C.M. Phelan, J.O. Claudio, F.Y. Han, N. Chretien, S. Rangaratnam, M. MacCollin, P. Short, D. Parry, V. Michels, V.M. Riccardi, R. Weksberg, K. Kitamura, J.M. Bradburn, B.D. Hall, P. Propping, and G.A. Rouleau. 1996. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am. J. Hum. Genet. 59: 331-342.
29. Sainz, J., D.P. Huynh, K. Figueroa, N.K. Ragge, M.E. Baser, and S.M. Pulst. 1994. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum. Mol. Genet. 3: 885-891.
30. Scoles, D.R., D.P. Huynh, P.A. Morcos, E.R. Coulsell, N.G. Robinson, F. Tamanoi, and S.M. Pulst. 1998. Neurofibromatosis 2 tumour suppressor schwannomin interacts with βII-spectrin. Nat. Genet. 18: 354-359.
31. Shaw, R.J., A.I. McClatchey, and T. Jacks. 1998a. Localization and functional domains of the neurofibromatosis type II tumor suppressor, merlin. Cell Growth Differ. 9: 287-296.
32. _. 1998b. Regulation of the neurofibromatosis type 2 tumor suppressor protein, merlin, by adhesion and growth arrest stimuli. J. Biol. Chem. 273: 7757-7764.
33. Sherman, L., H.M. Xu, R.T. Geist, S. Saporito-Irwin, N. Howells, H. Ponta, P. Herrlich, and D.H. Gutmann. 1997. Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene 15:2505-2509.
34. Stemmer-Rachamimov, A.O., L. Xu, C. Gonzalez-Agosti, J.A. Burwick, D. Pinney, R. Beauchamp, L.B. Jacoby, J.F. Gusella, V. Ramesh, and D.N. Louis, 1997. Universal absence of merlin, but not other ERM family members, in schwannomas. Am. J. Pathol. 151:1649-1654.
35. Trofatter, J.A., M.M. MacCollin, J.L. Rutter, J.R. Murrell, M.P. Duyao, D.M. Parry, R. Eldridge, N. Kley, A.G. Menon, K. Pulaski, V.H. Haase, C.M. Ambrose, D. Munroe, C. Bove, J.L. Haines, R.L. Martuza, M.E. MacDonald, B.R. Seizinger, M.P. Short, A.J. Buckler, and J.F. Gusella. 1993. A novel moesin, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72: 791-800.
36. Twist, E.C., M.H. Ruttledge, M. Rousseau, M. Sanson, L. Papi, P. Merel, O. Delattre, G. Thomas, and G.A. Rouleau. 1994. The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum. Mol. Genet. 3: 147-151.
37. Walker, V.E., K.T. Morgan, H.M, Zimmerman, and J.R. Innes. 1994. Tumours of the central and peripheral nervous system. In Pathology of tumors in laboratory animals: Tumors of the mouse (ed. V. Turusov and U. Mohr), pp. 731-776. International Agency for Research on Cancer Scientific Publication, Lyon, France.
38. Wiestler, O.D. and H. Radner. 1994. Pathology of neurofibromatosis 1 and 2. In The neurofibromatoses. A pathogenetic and clinical overview (ed. S.M. Huson and R.A. C. Hughes), pp. 135-159. Chapman & Hall, London, UK.
39. Xu, H.M. and D.H. Gutmann. 1998. Merlin differentially associates with the microtubule and actin cytoskeleton. J. Neuiosci Res. 51: 403-415.
40. Xu, L., C. Gonzalez-Agosti, R. Beauchamp, D. Pinney, C. Sterner, and V. Ramesh. 1998. Analysis of molecular domains of epitope-tagged merlin isoforms in Cos-7 cells and primary rat Schwann cells. Exp. Cell Res. 238: 231-240.
41. Zorick, T.S. and G. Lemke. 1996. Schwann cell differentiation. Curr. Opin. Cell Biol. 8: 870-876.