Point mutation in the NF2 gene of HEI-193 human schwannoma cells results in the expression of a merlin isoform with attenuated growth suppressive activity

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 637, Issue 1-2, 2008, Pages 142-151

  Lepont, Pierig ^a   Stickney, John T ^a   Foster, Lauren A ^a   Meng, Jin Jun ^a   Hennigan, Robert F ^a   Ip, Wallace ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

ERM proteins; Merlin; NF2; Schwannomin

Indexed keywords

ISOPROTEIN; MERLIN;

ANIMAL CELL; ARTICLE; CELL STRAIN 3T3; CELL STRAIN COS7; CONTROLLED STUDY; GENE; GROWTH INHIBITION; HUMAN; HUMAN CELL; MOUSE; NEURILEMOMA; NEUROFIBROMATOSIS; NF2 GENE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHWANN CELL;

BASE SEQUENCE; CELL LINE, TUMOR; CELL PROLIFERATION; GENES, NEUROFIBROMATOSIS 2; GENES, TUMOR SUPPRESSOR; HUMANS; NEURILEMMOMA; NEUROFIBROMIN 2; POINT MUTATION; PROTEIN ISOFORMS;

EID: 37149011440     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2007.07.015     Document Type: Article

References (30)

1. Reed N., and Gutmann D.H. Tumorigenesis in neurofibromatosis: new insights and potential therapies. Trends Mol. Med. 7 (2001) 157-162
2. Rouleau G.A., Merel P., Lutchman M., Sanson M., Zucman J., Marineau C., Hoang-Xuan K., Demczuk S., Desmaze C., Plougastel B., Pulst S.M., Lenoir G., Bijlsma E., Fashold R., Dumanski J., Jong P.d., Parry D., Eldrige R., Aurias A., Delattre O., and Thomas G. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363 (1993) 515-521
3. Trofatter J.A., MacCollin M.M., Rutter J.L., Murrell J.R., Duyao M.P., Parry D.M., Eldridge R., Kley N., Menon A.G., Pulaski K., Haase V.H., Ambrose C.M., Munroe D., Bove C., Haines J.L., Martuza R.L., MacDonald M.E., Seizinger B.R., Short M.P., Buckler A.J., and Gusella J.F. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72 (1993) 791-800
4. Bianchi A.B., Hara T., Ramesh V., Gao J., Klein-Szanto A.J., Morin F., Menon A.G., Trofatter J.A., Gusella J.F., Seizinger B.R., et al. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat. Genet. 6 (1994) 185-192
5. Jacoby L.B., MacCollin M., Louis D.N., Mohney T., Rubio M.P., Pulaski K., Trofatter J.A., Kley N., Seizinger B., Ramesh V., et al. Exon scanning for mutation of the NF2 gene in schwannomas. Hum. Mol. Genet. 3 (1994) 413-419
6. Chang L.S., Akhmametyeva E.M., Wu Y., Zhu L., and Welling D.B. Multiple transcription initiation sites, alternative splicing, and differential polyadenylation contribute to the complexity of human neurofibromatosis 2 transcripts. Genomics 79 (2002) 63-76
7. Sherman L., Xu H.-M., Geist R.T., Saporito-Irwin S., Howells N., Ponta H., Herrlich P., and Gutmann D.H. Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene 15 (1997) 2505-2509
8. Shaw R.J., Paez J.G., Curto M., Yaktine A., Pruitt W.M., Saotome I., O'Bryan J.P., Gupta V., Ratner N., Der C.J., Jacks T., and McClatchey A.I. The Nf2 tumor suppressor, merlin, functions in Rac-dependent signaling. Dev. Cell 1 (2001) 63-72
9. Kissil J.L., Wilker E.W., Johnson K.C., Eckman M.S., Yaffe M.B., and Jacks Merlin T. The product of the Nf2 tumor suppressor gene, is an inhibitor of the p21-activated kinase, Pak1. Mol. Cell 12 (2003) 841-849
10. Pelton P.D., Sherman L.S., Rizvi T.A., Marchionni M.A., Wood P., Friedman R.A., and Ratner N. Ruffling membrane, stress fiber, cell spreading, and proliferation abnormalities in human schwannoma cells. Oncogene 17 (1998) 2195-2209
11. Bashour A.-M., Meng J.-J., Ip W., MacCollin M., and Ratner N. The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human schwannoma cells. MCB 22 (2002) 1150-1157
12. Morrison H., Sherman L.S., Legg J., Banine F., Isacke C., Haipek C.A., Gutmann D.H., Ponta H., and Herrlich P. The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44. Genes Dev. 15 (2001) 968-980
13. Lallemand D., Curto M., Saotome I., Giovannini M., and McClatchey A.I. NF2 deficiency promotes tumorigenesis and metastasis by destabilizing adherens junctions. Genes Dev. 17 (2003) 1090-1100
14. Hung G., Faudoa R., Li X., Xeu Z., Brackmann D.E., Hitselberg W., Saleh E., Lee F., Gutmann D.H., Slattery III W., Rhim J.S., and Lim D. Establishment of primary vestibular schwannoma cultures from neurofibromatosis type-2 patients. Int. J. Oncol. 14 (1999) 409-415
15. Hung G., Li X., Faudoa R., Xeu Z., Kluwe L., Rhim J.S., Slattery W., and Lim D. Establishment and characterization of a schwannoma cell line from a patient with neurofibromatosis 2. Int. J. Oncol. 20 (2002) 475-482
16. Mount S.M. A catalogue of splice junction sequences. Nucl. Acids Res. 10 (1982) 459-472
17. Sainio M., Jaaskelainen J., Pihlaja H., and Carpen O. Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus. Neurology 54 (2000) 1132-1138
18. Stickney J.T., Bacon W.C., Rojas M., Ratner N., and Ip W. Activation of the tumor suppressor merlin modulates its interaction with lipid rafts. Cancer Res. 64 (2004) 2717-2724
19. Gronholm M., Sainio M., Zhao F., Heiska L., Vaheri A., and Carpen O. Homotypic and heterotypic interaction of the neurofibromatosis 2 tumor suppressor protein merlin and the ERM protein ezrin. J. Cell Sci. 112 (1999) 895-904
20. Pykett M.J., Murphy M., Harnish P.R., and George D.L. The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts. Hum. Mol. Genet. 3 (1994) 559-564
21. Arakawa H., Hayashi N., Nagase H., Ogawa M., and Nakamura Y. Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers. Hum. Mol. Genet. 3 (1994) 565-568
22. Schmucker B., Tang Y., and Kressel M. Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules. Hum. Mol. Genet. 8 (1999) 1561-1570
23. Meng J.-J., Lowrie D.J., Sun H., Dorsey E., Pelton P.D., Bashour A.-M., Groden J., Ratner N., and Ip W. Interaction between two isoforms of the NF2 tumor suppressor protein, merlin, and between merlin and ezrin, suggests modulation of ERM proteins by merlin. J. Neurosci. Res. 62 (2000) 491-502
24. Gautreau A., Manent J., Fievet B., Louvard D., Giovannini M., and Arpin M. Mutant products of the NF2 tumor suppressor gene are degraded by the ubiquitin-proteasome pathway. J. Biol. Chem. 277 (2002) 31279-31282
25. Xu L., Gonzalez-Agosti C., Beauchamp R., Pinney D., Sterner C., and Ramesh V. Analysis of molecular domains of epitope-tagged merlin isoforms in Cos-7 cells and primary rat Schwann cells. Exp. Cell Res. 238 (1998) 231-240
26. McClatchey A.I., Saotome I., Ramesh V., Gusella J.F., and Jacks T. The Nf2 tumor suppressor gene product is essential for extra embryonic development immediately prior to gastrulation. Genes Dev. 11 (1997) 1253-1265
27. McClatchey A.I., Saotome I., Mercer K., Crowley D., Gusella J.F., Bronson R.T., and Jacks T. Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev. 12 (1998) 1121-1133
28. Schulze K.M.M., Hanemann C.O., Muller H.W., and Hanenberg H. Transduction of wild type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis. Hum. Mol. Genet. 11 (2002) 69-76
29. Nguyen R., Reczek D., and Bretscher A. Hierarchy of merlin and ezrin N- and C-terminal domain interactions in homo- and hetero-typic associations and their relationship to binding of scaffolding proteins EBP50 and E3KARP. J. Biol. Chem. 276 (2001) 7621-7629
30. Giovannini M., Robanus-Maandag E., Valk M.v.d., Niwa-Kawakita M., Abramowski V., Goutebroze L., Woodruff J.M., Berns A., and Thomas G. Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev. 14 (2000) 1617-1630