Molecular insights into neurofibromatosis 2

Neurobiology of Disease

Volumn 3, Issue 4, 1997, Pages 247-261

  Gutmann, David H ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE ISOLATION; GENE MAPPING; GENETIC LINKAGE; HUMAN; NEUROFIBROMATOSIS; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE;

EID: 0030936999     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1997.0128     Document Type: Review

References (92)

1. Algrain M., Turunen O., Vaheri A., Louvard D., Arpin M. Ezrin contains cytoskeleton and membrane binding domains accounting for its proposed role as a membrane-cytoskeletal linker. J. Cell. Biol. 120:1993;129-139.
2. Andreoli C., Martin M., Le Borgne R., Reggio H., Mangeat P. Ezrin has properties to self-associate at the plasma membrane. J. Cell Sci. 107:1994;2509-2521.
3. Arakawa H., Hayashi N., Nagase H., Ogawa M., Nakamura Y. Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers. Hum. Mol. Genet. 3:1994;565-568.
4. Barker D., Wright E., Nguyen K., Cannon L., Fain P., Golgar D., Bishop D. T., Carey J., Baty B., Kivlin J., Williard H., Waye J. S., Greig G., Leinwand L., Nakamura Y., O'Connell P., Leppert M., Lalouel J-M., White R., Skolnick M. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 236:1987;1100-1102.
5. Basu T. N., Gutmann D. H., Fletcher J. A., Glover T. W., Collins F. S., Downward J. Aberrant regulation of ras proteins in tumour cells from type 1 neurofibromatosis patients. Nature. 356:1992;713-715.
6. Berryman M., Gary R., Bretscher A. Ezrin oligomers are major cytoskeletal components of placental microvilli: A proposal for their involvement in cortical morphogenesis. J. Cell. Biol. 131:1995;1231-1242.
7. Bianchi A. B., Hara T., Ramesh V., Gao J., Klein-Szanto A. J. P., Morin F., Menon A. G., Trofatter J. A., Gusella J. F., Seizinger B. R., Kley N. Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumor types. Nature Genet. 6:1994;185-192.
8. Bianchi A. B., Mitsunaga S-I., Cheng J. Q., Klein W. M., Jhanwar S. C., Seizinger B. R., Kley N., Klein-Szanto J. P., Testa J. P. High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas. Proc. Natl. Acad. Sci. USA. 92:1995;10854-10858.
9. Bijisma E. K., Brouwer-Mladin R., Bosch D. A., Westerveld A., Hulsebos T. J. M. Molecular characterization of chromosome 22 deletions in schwannomas. Genes Chromosomes Cancer. 5:1992;201-205.
10. Birgbauer E., Dinsmore J. H., Winckler B., Lander A. D., Solomon F. Association of ezrin isoforms with the neuronal cytoskeleton. J. Neurosci. Res. 30:1991;232-241.
11. Bourguignon L. Y. W., Lokeshwar V. B., Chen X., Kerrick W. G. L. Hyaluronic acid-induced lymphocyte signal transduction and HA receptor (GP85/CD44)-cytoskeletal interaction. J. Immunol. 151:1993;6634-6644.
12. Bretscher A. Rapid phosphorylation and reorganization of ezrin and spectrin accompany morphological changes induced in A-431 by epidermal growth factor. J. Cell. Biol. 108:1989;921-930.
13. Cawthon R. M., Weiss M., Xu G., Viskochil D., Culver M., Stevens J., Robertson M., Dunn D., Gesteland R., OConnell P., White R. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 62:1990;193-201.
14. Claudio J. O., Marineau C., Rouleau G. A. The mouse homologue of the neurofibromatosis type 2 gene is highly conserved. Hum. Mol. Genet. 3:1994;185-190.
15. Claudio J. O., Lutchman M., Rouleau G. A. Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 gene. NeuroReport. 6:1995;1942-1946.
16. Cushing H. Tumours of the Nervus Acusticus and the Syndrome of the Cerebello-Pontine Angle. 1917;Saunders, Philadelphia.
17. ras. Cell. 69:1992;265-273.
18. den Bakker M. A., Riegman P. H. J., Hekman R. A. C. P., Boersma W., Janssen P. J. A., van der Kwast T. H., Zwarthoff E. C. The product of the NF2 tumour suppressor gene localizes near the plasma membrane and is highly expressed in muscle cells. Oncogene. 10:1995a;757-763.
19. den Bakker M. A., Tacilar M., Reigman P. H. J., Hekman A. C. P., Boersma W., Janssen P. J. A., deJong T. A. W., Hendriks Q., vanderKwast T. H., Zwartoff E. Neurofibromatosis type 2 protein co-localizes with elements of the cytoskeleton. Am. J. Pathol. 147:1995b;1339-1349.
20. Discher D., Parra M., Conboy J. G., Mohandas N. Mechanochemistry of the alternatively spliced spectrin-actin binding domain in membrane skeletal protein 4.1. J. Biol. Chem. 268:1993;7186-7195.
21. Evans D. G. R., Huson S. M., Donnai D., Neary W., Blair V., Newton V., Harris R. A clinical study of type 2 neurofibromatosis. Q. J. Med. 304:1992a;603-618.
22. Evans D. G. R., Huson S. M., Donnai D., Neary W., Blair V., Teare D., Newton V., Strachan T., Ramsden, Harris R. A genetic study of type 2 neurofibromatosis in the United Kindgom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J. Med. Genet. 29:1992b;841-846.
23. Gardner W. J., Frazier C. H. Bilateral acoustic neurofibromatosis: A clinical study and field survey of a family of five generations with bilateral deafness in thirty eight members. Arch. Neurol. Psychiatr. 23:1930;266-302.
24. Gary R., Bretscher A. Heterotypic and homotypic associations between ezrin and moesin, two putative membrane-cytoskeletal linking proteins. Proc. Natl. Acad. Sci. USA. 90:1993;10846-10850.
25. Gary R., Bretscher A. Ezrin self-association involves binding of an N-terminal domain to a normally masked C-terminal domain that includes the F-actin binding site. Mol. Biol. Cell. 6:1995;1061-1075.
26. Gonzalez-Agosti C., Xu L., Pinney D., Beauchamp R., Hobbs W., Gusella J., Ramesh V. The merlin tumor suppressor localizes preferentially in membrane ruffles. Oncogene. 13:1996;1239-1247.
27. Gould K. L., Bretscher A., Esch F. S., Hunter T. cDNA cloning and sequencing of the protein-tyrosine kinase substrate, ezrin, reveals homology to band 4.1. EMBO J. 8:1989;4133-4142.
28. Gutmann D. H., Collins F. S. von Recklinghausen neurofibromatosis. The Metabolic and Molecular Bases of Inherited Disease. 1995;McGraw-Hill, New York. p. 667-696.
29. D. H. Gutmann, M. J. Giordano, A. S. Fishback, A. Guha, Loss of merlin expression in sporadic meningiomas, ependymomas and schwannomas, Neurology.
30. Gutmann D. H., Wright D. E., Geist R. T., Snider W. D. Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development. Hum. Mol. Genet. 4:1995;471-478.
31. Haase V. K., Trofatter J. A., MacCollin M., Tarttelin E., Gusella J. F., Ramesh V. The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Hum. Mol. Genet. 3:1994;407-411.
32. Hanzel D., Reggio H., Bretscher A., Forte J. G., Mangeat P. The secretion-stimulated 80 K phosphoprotein of parietal cells is ezrin, and has properties of a membrane cytoskeletal linker in the induced apical microvilli. EMBO J. 10:1991;2363-2373.
33. Hara T., Bianchi A. B., Seizinger B. R., Kley N. Molecular cloning and characterization of alternatively spliced transcripts of the mouse neurofibromatosis 2 gene. Cancer Res. 54:1994;330-335.
34. Henry M. D., Agosti C. G., Solomon F. Molecular dissection of radixin: Distinct and interdependent functions of the amino- and carboxy-terminal domains. J. Cell Biol. 129:1995;1007-1022.
35. Henschen F. Zur Histologie und Pathogenese der Kleinhirnbrucken-Winkeltumoren. Arch. Psychiatr. 56:1915;21.
36. Hirao M., Sato N., Kondo T., Yonemura S., Monden M., Sasaki T., Takai Y., Tsukita S., Tsukita S. Regulation mechanism of ERM (ezrin/radixin/moesin) protein/plasma membrane association: Possible involvement of phosphatidylinositol turnover and rho-dependent signaling pathway. J. Cell Biol. 135:1996;37-51.
37. Hitotsumatsu T., Kitamoto T., Iwaki T., Fujui M., Tateishi J. An exon 8-spliced out transcript of neurofibromatosis 2 gene is constitutively expressed in various human tissues. J. Biochem. 116:1994;1205-1207.
38. Hoang-Xuan K., Merel P., Vega F., Hugot J-P., Cornu P., Delattre J-Y., Poisson M., Thomas G., Delattre O. Analysis of the NF2 tumor suppressor gene and of chromosome 22 deletions in gliomas. Int. J. Cancer. 60:1995;478-481.
39. Huynh D. P., Tran T-M. D., Nechiporuk T., Pulst S-M. Expression of neurofibromatosis 2 transcript and gene product during mouse fetal development. Cell Growth Differ. 7:1996;1551-1561.
40. Jacoby L. B., MacCollin M., Brown R., Ramesh V., Gusella J. F. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 17:1996;45-55.
41. Knudson A. G. Mutation and cancer: Statistical study of retinoblastoma. Proc. Natl. Acad. Sci. USA. 68:1971;820-823.
42. Knudson A. Antioncogenes and human cancer. Proc. Natl. Acad. Sci. USA. 90:1993;10914-10921.
43. Krieg J., Hunter T. Identification of the two major epidermal growth factor-induced tyrosine phosphorylation sites in the microvillar core protein ezrin. J. Biol. Chem. 267:1992;19258-19265.
44. Lankes W. T., Furthmayr H. Moesin: A member of the protein 4.1-talin-ezrin family of proteins. Proc. Natl. Acad. Sci. USA. 88:1991;8297-8301.
45. Lesley J., Hyman R., Kincaid P. W. CD44 and its interaction with extracellular matrix. Adv. Immunol. 54:1993;271-335.
46. Lutchman M., Rouleau G. A. The neurofibromatosis type 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells. Cancer Res. 55:1995;2270-2274.
47. Lutchman M., Rouleau G. A. Neurofibromatosis type 2: A new mechanism of tumor suppression. Trends Neurosci. 19:1996;373-377.
48. McCartney B. M., Fehon R. G. Distinct cellular and subcellular patterns of expression imply distinct functions for theDrosophila. J. Cell Biol. 133:1996;843-852.
49. MacCollin M., Braverman N., Viskochil D., Ruttledge M., Davis K., Ojemann R., Gusella J., Parry D. M. A point mutation associated with a severe phenotype of neurofibromatosis 2. Ann. Neurol. 40:1996;440-445.
50. Magendantz M., Henry M. D., Lander A., Solomon F. Interdomain interactions of radixin in vitro. J. Biol. Chem. 270:1995;25324-25327.
51. Martuza R. L., Eldridge R. Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N. Engl. J. Med. 318:1988;685-688.
52. Mautner V-F., Lindenau M., Baser M. E., Hazim W., Tagagiba M., Haase W., Samii M., Wais R., Pulst S-M. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery. 38:1996;880-886.
53. Merel P., Hoang-Xuan K., Sanson M., Moreau-Aubry A., Bijisma E. K., Lazaro C., Moisan J. P., Resche F., Nishisho I., Estivill X., Delattre J. Y., Poisson M., Theillet C., Hulsebos T., Delattre O., Thomas G. Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosomes Cancer. 13:1995;211-216.
54. National Institutes of Health, 1987, Neurofibromatosis: National Institutes of Health Consensus Development Conference Statement, NIH, Bethesda, MD.
55. Ng H-K., Lau K-M., Tse J. Y. M., Lo K-W., Wong J. H. C., Poon W-S., Huang D. P. Combined molecular genetic studies of chromosome 22q and the neurofibromatosis type 2 gene in central nervous system tumors. Neurosurgery. 37:1995;764-773.
56. Nobes C. D., Hall A. Rho, Rac, and Cdc42 GTPase regulate the assembly of multimolecular focal complexes associated with actin stress fibers, lamellipodia, and filopodia. Cell. 81:1995;53-62.
57. D. M. Parry, R. Eldridge, 1991, Bilateral acoustic neurofibromatosis (NF2): Consensus Development Conference, NIH, Bethesda, MD.
58. Parry D. M., MacCollin M. M., Kaiser-Kupfer M. I., Pulaski K., Nicholson H. S., Bolesta M., Eldridge R., Gusella J. F. Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities. Am. J. Hum. Genet. 59:1996;529-539.
59. Pykett M. J., Murphy M., Harnish P. R., George D. L. The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts. Hum. Mol. Genet. 3:1994;559-564.
60. Ragge N. K., Baser M. E., Klein J., Nechiporuk A., Sainz J., Pulst S-M., Riccardi V. M. Ocular abnormalities in neurofibromatosis 2. Am. J. Ophthalmol. 120:1995;634-641.
61. Riccardi V. M. Neurofibromatosis: Past, present and future. N. Engl. J. Med. 324:1991;1283-1285.
62. Ridley A. J., Hall A. The small GTP-binding protein rho regulates the assembly of focal adhesions and actin stress fibers in response to growth factors. Cell. 70:1992;389-399.
63. Rouleau B. R., Wertelecki W., Haines J. L., Hobbs W. J., Trofatter J. A., Seizinger B. R., Martuza R. L., Supernau D. W., Conneally P. M., Gusella J. F. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 329:1987;246-248.
64. Rouleau G. A., Merel P., Lutchman M., Sanson M., Zucman J., Marineau C., Hoang-Xuan K., Demczuk M., Desmaze C., Plougastel B., Pulst S. M., Lenoir G., Bijisma E., Fashold R., Dumanski J., de Jong P., Parry D., Eldrige R., Aurias A., Delattre O., Thomas G. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature. 363:1993;515-521.
65. Rubio M-P., Correa K. M., Ramesh V., McCollin M. M., Jacoby L. B., von Deimling A., Gusella J. F., Louis D. N. Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. Cancer Res. 54:1994;45-47.
66. Ruttledge M. H., Sarrazin J., Rangaratnam S., Phelan C. M., Twist E., Merel P., Delattre O., Thomas G., Nordenskjold M., Collins V. P., Dumanski J. P., Rouleau G. A. Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nature Genet. 6:1994;180-184.
67. Ruttledge M. H., Andermann A. A., Phelan C. M., Claudio J. O., Han F-Y., Chretien N., Rangaratnam S., MacCollin M., Short P., Parry D., Michels V., Riccardi V. M., Weksberg R., Kitamura K., Bradburn J. M., Hall B. D., Propping P., Rouleau G. A. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am. J. Hum. Genet. 59:1996;331-342.
68. Sainz J., Huynh D. P., Figueroa K., Ragge N. K., Baser M. E., Pulst S. M. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum. Mol. Genet. 3:1994;885-891.
69. Scherer S. S., Gutmann D. H. Expression of the neurofibromatosis 2 tumor suppressor gene product, merlin, in Schwann cells. J. Neurosci. Res. 46:1996;595-605.
70. Scoles D. R., Huynh D. P., Coulsell E. R., Robinson N. G. G., Tamanoi F., Pulst S-M. The neurofibromatosis 2 gene product schwannomin interacts with beta-II-spectrin. Am. J. Hum. Genet. 59:1996;A5.
71. Sherman L., Sleeman J., Herrlich P., Ponta H. Hyaluronate receptors: Key players in growth, differentiation, migration and tumor progression. Curr. Opinion Cell Biol. 6:1994;726-733.
72. Sherman L., Skroch-Angel P., Moll J., Schwechheimer K., Ponta H., Herrlich P., Hofmann M. Schwann cell tumors express characteristic patterns of CD44 splice variants. J. Neuro-oncol. 26:1995;171-184.
73. Sherman L., Sleeman J., Dall P., Hekele A., Moll J., Ponta H., Herrlich P. The Cd44 proteins in embryonic development and cancer. Curr. Top. Microbiol. Immunol. 213:1996;249-269.
74. Slavc I., MacCollin M. M., Dunn M., Jones M., Sutton L., Gusella J. F. Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumos and meningiomas. Int. J. Cancer. 64:1995;243-247.
75. Takaishi K., Sasaki T., Kameyama T., Tsukita S., Tsukita S., Takai Y. Translocation of activated Rho from the cytoplasm to membrane ruffling area, cell-cell adhesion sites and cleavage furrows. Oncogene. 11:1995;39-48.
76. Takeshima H., Izawa I., Lee P. S. Y., Safdar N., Levin V. A., Saya H. Detection of cellular proteins that interact with the NF2 tumor suppressor gene product. Oncogene. 9:1994;2135-2144.
77. Takeuchi K., Sato N., Kasahara H., Funayama N., Nagafuchi A., Yonemura S., Tsukita S., Tsukita S. Perturbation of cell adhesion and microvilli formation by antisense oligonucleotides to ERM family members. J. Cell. Biol. 125:1994;1371-1384.
78. Tanaka N., Nishisho I., Yamamoto M., Miya A., Shin E., Karakawa K., Fujita S., Kobayashi T., Rouleau G. A., Mori T., Takai S-I. Loss of heterozygosity on the long arm of chromosome 22 in pheochromocytoma. Genes Chromosomes Cancer. 5:1992;399-403.
79. Tikoo A., Varga M., Ramesh V., Gusella J., Maruta H. An anti-ras function of neurofibromatosis type 2 gene product (NF2/merlin). J. Biol. Chem. 269:1994;23387-23390.
80. 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., Gusella J. F. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 72:1993;1-20.
81. Tsukita S., Heida Y., Tsukita S. A new 82 kD barbed end-capping protein (radixin) localized in the cell-to-cell adherens junction: Purification and characterization. J. Cell Biol. 108:1989;2369-2382.
82. Tsukita S., Tsukita S., Nagafuchi A., Yonemura S. Molecular linkage between cadherins and actin filaments in cell-cell adherens junctions. Curr. Biol. 4:1992;834-839.
83. Tsukita S., Oishi K., Sato N., Sagara J., Kawai A., Tsukita S. ERM family members as molecular linkers between the cell surface glycoprotein CD44 and actin-based cytoskeletons. J. Cell Biol. 126:1994;391-401.
84. Turley E. A., Austen L., Vandeligt K., Clary C. Hyaluronan and a cell-associated hyaluronan binding protein regulate the locomotion of Ras-transformed cells. J. Cell Biol. 112:1991;1041-1047.
85. Twist E. C., Ruttledge M. H., Rouseau M., Sanson M., Papi L., Merel P., Delattre O., Thomas G., Rouleau G. A. The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum. Mol. Genet. 3:1994;147-151.
86. Viskochil D., Buchberg A. M., Xu G., Cawthom R. M., Stevens J., Wolff R. K., Culver M., Carey J. C., Copeland N. G., Jenkins N. A., White R., O'Connell P. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 62:1990;187-192.
87. von Recklinghausen F. Uber die multiplen Fibroma der Haut und uhre Beziehung zu den multiplen Neuromen. 1882;A. Hirschwald, Berlin.
88. 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., Collins F. S. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science. 249:1990;181-186.
89. Wellenreuther R., Kraus J. A., Lenartz D., Menon A. G., Schramm J., Louis D. N., Ramesh V., Gusella J. F., Wiestler O. D., von Deimling A. Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am. J. Pathol. 146:1995;827-832.
90. Wishart J. H. Case of tumours in the skull, dura mater and brain. Edinburgh Med. Surg. J. 18:1820;393-397.
91. Wolff R. K., Frazer K. A., Jackler R. K., Lanser M. J., Pitts L. H., Cox D. R. Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. Am. J. Hum. Genet. 51:1992;478-485.
92. Young P. F., Eldridge R., Nager G. T., Deland F. H., McNew J. Hereditary bilateral acoustic neuroma (central neurofibromatosis). Birth Defects OAS. 7:1971;73-86.