A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors

American Journal of Human Genetics

Volumn 60, Issue 2, 1997, Pages 305-312

  Cappione, Amedeo J ^a   French, Brian L ^a   Skuse, Gary R ^a,b  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARCINOGENICITY; DISEASE PREDISPOSITION; GENETIC REGULATION; HUMAN; HUMAN TISSUE; NEURAL CREST; NEUROFIBROMATOSIS; ONCOGENE RAS; PATHOGENESIS; PRIORITY JOURNAL; PROTO ONCOGENE; RNA EDITING; STOP CODON; TUMOR SUPPRESSOR GENE;

ASTROCYTOMA; CLONING, MOLECULAR; CODON, TERMINATOR; DNA, COMPLEMENTARY; GENES, NEUROFIBROMATOSIS 1; GLIOMA; HUMANS; NEUROFIBROMA; NEUROFIBROMATOSIS 1; NEUROFIBROSARCOMA; PHEOCHROMOCYTOMA; RNA EDITING; RNA, MESSENGER; RNA, NEOPLASM; SEQUENCE ANALYSIS, DNA;

EID: 0031030346     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Baum CL, Teng BB, Davidson NO (1990) Apolipoprotein B messenger RNA editing in rat liver. Modulation by fasting and refeeding a high carbohydrate diet. J Biol Chem 265: 19263-19270
2. Bollag G, McCormick F, Clark R (1993) Characterization of full-length neurofibromin: tubulin inhibits ras GTP activity. EMBO J 12:1923-1927
3. Buchberg AM, Cleveland LS, Jenkins NA, Copeland NG (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
4. Colman SD, Williams CA, Wallace MR (1995) Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet 11:90-92
5. Easton DF, Ponder MA, Huson SM, Ponder BAJ (1993) An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 53:305-313
6. Greeve J, Altkemper J, Dieterich JH, Greten H, Windler E (1993) Apolipoprotein B mRNA editing in 12 different mammalian species: hepatic expression is reflected in low concentrations of apoB-containing plasma lipoproteins. J Lipid Res 34:1367-1383
7. Gutmann DH, Andersen LB, Cole JL, Swaroop M, Collins FS (1993) An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. Hum Mol Genet 2:989-992
8. Gutmann DH, Geist RT, Rose K, Wright DE (1995) Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Dev Dyn 202:302-311
9. Hope DG, Mulvihill JJ (1981) Malignancy in neurofibromatosis. Adv Neurol 29:33-56
10. Huson SM, Compston DAS, Clark P, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26: 704-711
11. Inui Y, Giannoni F, Funahashi T, Davidson NO (1994) REPR and complementation factor(s) interact to modulate rat apolipoprotein B mRNA editing in response to alterations in cellular cholesterol flux. J Lipid Res 35:1477-1489
12. Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
13. Kyritsis AP, Lee PSY, Mochizuki H, Nishi T, Levin VA, Saya H (1992) Differential splicing of the neurofibromatosis type 1 gene in the rat: splice variants homologous with the human are expressed in rat cells. Int J Oncol 1:149-152
14. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, et al (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 25:9-18
15. Metheny LJ, Cappione AJ, Skuse GR (1995) Genetic and epigenetic mechanisms in the pathogenesis of neurofibromatosis type I. J Neuropathol Exp Neurol 54:753-760
16. National Institutes of Health Consensus Development Conference (1988) Neurofibromatosis: conference statement. Arch Neurol 45:575-578
17. Nishi T, Lee PSY, Oka K, Levin VA, Tanase S, Morino Y, Saya H (1991) Differential expression of the two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 6:1555-1559
18. Riccardi VM, Eichner JE (1986) Neurofibromatosis: phenotype, natural history, and pathogenesis. Johns Hopkins University Press, Baltimore, pp 214-226
19. Sharma PM, Bowman M, Madden SL, Rauscher FJ, Sukumar S (1994) RNA editing in the Wilms' tumor susceptibility gene, WT1. Genes Dev 8:720-731
20. Skuse GR, Cappione AJ, Sowden M, Metheny LJ, Smith HC (1996) The Neurofibromatosis type I messenger RNA undergoes base-modification RNA editing. Nucleic Acids Res 24:478-486
21. Skuse GR, Kosciolek BA, Rowley PT (1989) Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17. Genes Chromosom Cancer 1:36-41
22. _ (1991) The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am J Hum Genet 49:600-607
23. Uchida T, Matozaki T, Suzuki T, Matsuda K, Wada K, Nakano O, Konda Y, et al (1992) Expression of two types of neurofibromatosis type 1 gene transcripts in gastric cancers and comparison of GAP activities. Biochem Biophys Res Commun 181:332-339
24. Xu G, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, et al (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599-608