Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

Neurogenetics

Volumn 2, Issue 2, 1999, Pages 101-108

  Jacoby, Lee B ^a   MacCollin, Mia ^a   Parry, Dilys M ^b   Kluwe, Lan ^c   Lynch, Julie ^a   Jones, Deborah ^a   Gusella, James F ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Allelic expression; Neurofibromatosis 2; Polymorphism; Schwannomatosis

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; CHROMOSOME 22; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MISSENSE MUTATION; NEURILEMOMA; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ALLELES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; CODON, TERMINATOR; FRAMESHIFT MUTATION; GENES, NEUROFIBROMATOSIS 2; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; LOSS OF HETEROZYGOSITY; LYMPHOCYTES; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; NEURILEMMOMA; NEUROFIBROMATOSIS 2; NEUROFIBROMIN 2; RESTRICTION MAPPING; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 0032903667     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050060     Document Type: Article

References (38)

1. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuza RL, MacDonald ME, Seizinger BR, Short MP, Buckler AJ, Gusella JF (1993) A novel moesin-, ezrin-, radix-in-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800
2. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst SM, Lenoir G, Bijlsma E, Fashold R, Dumanski J, Jong P de, Parry D, Eldridge R, Aurias A, Delattre O, Thomas G (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363:515-521
3. Gusella JF, Ramesh V, MacCollin M, Jacoby LB (1996) Neurofibromatosis 2: loss of merlin's protective spell. Curr Opin Genet Dev 6:87-92
4. Tsukita S, Yonemura S, Tsukita S (1997) ERM (ezrin/radixin/ moesin) family: from cytoskeleton to signal transduction. Curr Opin Cell Biol 9:70-75
5. Bourn D, Carter SA, Mason S, Evans DGR, Strachan T (1994) Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Hum Mol Genet 3:813-816
6. MacCollin MM, Ramesh V, Jacoby LB, Louis DN, Rubio M-P, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, Parry DM, Gusella JF (1994) Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 55:314-320
7. Merel P, Hoang-Xuan K, Sanson M, Bijlsma EK, Rouleau G, Laurent-Puig P, Pulst S, Baser M, Lenoir GM, Sterkers JM, Philippon J, Resche F, Mautner VF, Fischer G, Hulsebos T, Aurias A, Delattre O, Thomas G (1995) Screening for germline mutations in the NF2 gene. Genes Chromosom Cancer 12:117-127
8. Kluwe L, Bayer S, Baser ME, Hazim W, Haase W, Funsterer C, Mautner V-F (1996) Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 98:534-538
9. Jacoby LB, MacCollin MM, Louis DN, Mohney TM, Rubio M-P, Pulaski K, Trofatter JA, Ramesh V, Gusella JF (1994) Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 3:413-419
10. Twist EC, Ruttledge MH, Rousseau M, Sanson M, Papi L, Merel P, Delattre O, Thomas G, Rouleau GA (1994) The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum Mol Genet 3:147-151
11. Irving RM, Moffat DA, Hardy DG, Barton DE, Xuereb JH, Maher ER (1994) Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Hum Mol Genet 3:347-350
12. Merel P, Hoang-Xuan K, Sanson M, Moreau-Aubry A, Bijlsma EK, Lazaro C, Moisan JP, Resche F, Nishisho I, Estivill X, Delattre JY, Poisson M, Theillet C, Hulsebos T, Delattre O, Thomas G (1995) Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosom Cancer 13:211-216
13. Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella IF (1996) Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosom Cancer 17:45-55
14. Ruttledge MH, Sarrazin J, Rangaratnam S, Phelan C, Twist E, Merel P, Delattre O, Thomas G, Nordenskjold M, Collins VP, Dumanski JP, Rouleau GA (1994) Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nat Genet 6:180-184
15. Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, Diemling A von (1995) Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol 146:827-832
16. Rubio M-P, Correa KM, Ramesh V, MacCollin MM, Jacoby LB, Deimling A von, Gusella JF, Louis DN (1994) Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. Cancer Res 54:45-47
17. Birch BD, Johnson JP, Parsa A, Desai RD, Yoon JT, Lycette CA, Li YM, Bruce JN (1996) Frequent type 2 neurofibromatosis gene transcript mutations in sporadic intramedullary spinal cord ependymomas. Neurosurgery 39:135-140
18. Stemmer-Rachamimov AO, Xu L, Gonzalez-Agosti C, Burwick JA, Pinney D, Beauchamp R, Jacoby LB, Ramesh V, Louis DN (1997) Universal absence of merlin, but not other ERM family members, in schwannomas. Am J Pathol 151:1649-1654
19. Hitotsumatsu T, Iwaki T, Kitamoto T, Mizoguchi M, Suzuki SO, Hamada Y, Fukui M, Tateishi J (1997) Expression of neurofibromatosis 2 protein in human brain tumors: an immunohistochemical study. Acta Neuropathol (Berl) 93:225-232
20. Huynh DP, Mautner V, Baser ME, Stavrou D, Pulst S-M (1997) Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. J Neuropathol Exp Neurol 56:382-390
21. Gutmann DH, Giordano MJ, Fishback AS, Guha A (1997) Loss of merlin expression in sporadic meningiomas, ependymomas and schwannomas. Neurology 49:267-270
22. MacCollin M, Woodfin W, Kronn D, Short MP (1996) Schwannomatosis: a clinical and pathological study. Neurology 46:1072-1079
23. Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M (1997) Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 61:1293-1302
24. Anderson MA, Gusella JF (1984) Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro Cell Dev Biol Anim 20:856-858
25. Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R (1990) Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med 113:39-52
26. MacCollin M, Jacoby LB, Jones D, Ojemann R, Feit H, Gusella J (1997) Somatic mosaicism of the neurofibromatosis 2 tumor suppressor gene. Neurology 48:A429
27. Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
28. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
29. Cooper DN (1993) Human gene mutations affecting RNA processing and translation. Ann Med 25:11-17
30. Hoffmeyer S, Assum G, Griesser J, Kaufmann D, Nurnberg P, Krone W (1995) On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1. Hum Mol Genet 4:1267-1272
31. Cowley GS, Murthy AE, Parry DM, Schneider G, Korf B, Upadhyaya M, Harper P, MacCollin M, Bernards A, Gusella JF (1998) Genetic variation in the 3′ untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression. Somat Cell Mol Genet 24:107-119
32. Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF (1988) Neurofibromatosis 2:clinical and DNA linkage studies of a large kindred. N Engl J Med 319:278-283
33. MacCollin M, Mohney T, Trofatter J, Wertelecki W, Ramesh V, Gusella J (1993) DNA diagnosis of neurofibromatosis 2. JAMA 270:2316-2320
34. Haase VH, Trofatter JA, MacCollin M, Tarttelin E, Gusella JF, Ramesh V (1994) The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms. Hum Mol Genet 3:407-411
35. Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han F-Y, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59:331-342
36. Kehrer-Sawatzki H, Udart M, Krone W, Baden R, Fahsold R, Thomas G, Schmucker B, Assum G (1997) Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2. Hum Genet 100:67-74
37. Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF (1996) Germline mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59:529-539
38. Zucman-Rossi J, Legoix P, Der Sarkissian H, Cheret G, Sor F, Bernardi A, Cazes L, Giraud S, Ollagnon E, Lenoir G, Thomas G (1998) NF2 gene in neurofibromatosis type 2 patients. Hum Mol Genet 7:2095-2101