Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type

Human Genetics

Volumn 112, Issue 2, 2003, Pages 117-123

  Wang, Qing ^a   Mountmain, Gilles ^a   Ruano, Eric ^a   Upadhyaya, Meena ^c   Dudley, Sandra ^d   Liskay, R Michael ^d   Thibodeau, Stephen N ^e   Puisieux, Alain ^a,b  

^a CENTRE LÉON BÉRARD   (France)

^b UNIVERSITÉ LYON 1   (France)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN; PROTEIN MLH1; CARRIER PROTEIN; DNA; DNA BINDING PROTEIN; MICROSATELLITE DNA; MLH1 PROTEIN, HUMAN; MLH1 PROTEIN, MOUSE; MSH2 PROTEIN, HUMAN; MSH2 PROTEIN, MOUSE; NUCLEAR PROTEIN; ONCOPROTEIN; PROTEIN MSH2; RNA; TUMOR PROTEIN;

ANIMAL CELL; ARTICLE; CANCER; CANCER CELL CULTURE; CANCER GENETICS; CONTROLLED STUDY; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE INACTIVATION; GENE MUTATION; GENE TARGETING; HUMAN; HUMAN CELL; MALIGNANT TRANSFORMATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; WILD TYPE; ANIMAL; BASE MISPAIRING; CELL CULTURE; CODON; DNA REPAIR; FEMALE; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; MALE; METABOLISM; MUTATION; NEOPLASM; NEUROFIBROMATOSIS; PATHOLOGY; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

MURINAE;

ANIMALS; BASE PAIR MISMATCH; CARRIER PROTEINS; CODON; DNA REPAIR; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; FIBROBLASTS; GENES, NEUROFIBROMATOSIS 1; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; MALE; MICE; MICROSATELLITE REPEATS; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NEOPLASMS; NEUROFIBROMATOSIS 1; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, NEOPLASM; TUMOR CELLS, CULTURED;

EID: 0037315934     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0858-4     Document Type: Article

References (33)

1. Ainsworth PJ, Chakraborty PK, Weksberg R (1997) Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Hum Mutat 9:452-457
2. Boyer JC, Umar A, Risinger JI, Lipford JR, Kane M, Yin S, Barrett JC, Kolodner RD, Kunkel TA (1995) Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res 55:6063-6070
3. Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR (1996) Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 58:484-490
4. Cottu PH, Muzeau F, Estreicher A, Flejou JF, Iggo R, Thomas G, Hamelin R (1996) Inverse correlation between RER+ status and p53 mutation in colorectal cancer cell lines. Oncogene 13:2727-2730
5. Deng G, Chen A, Hong J, Chae HS, Kim YS (1999) Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. Cancer Res 59:2029-2033
6. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
7. Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P (2000) Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet 66:790-818
8. Heim RA, Kam-Morgan LN, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet 4:975-981
9. Huson SM (1994) Neurofibromatosis: Historical perspective, classification and diagnostic criteria. In: Huson SM, Hughes RAC (eds) The Neurofibromatoses. A Pathogenetic and Clinical Overview. Chapman and Hall, London, pp 1-22
10. Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CGP, Barker DF, Ponder BA (1990) Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 343:558-559
11. Lazaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivil X (1996) Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 98:696-699
12. Loeb LA (1994) Microsatellite instability: Marker of a mutator phenotype in cancer. Cancer Res 54:5059-5063
13. Lynch, HT, Smyrk, T, Lynch JF (1996) Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int J Cancer 69:38-43
14. Malkhosyan S, Rampino N, Yamamoto H, Perucho M (1996) Frameshift mutator mutations. Nature 3825:499-500
15. Markowitz SD, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, Fan RS, Zborowska E, Kinzler KW, Vogelstein B, Brattain M, Wilson JKV (1995) Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science 268:1336-1338
16. Modrich P (1997) Strand-specific mismatch repair in mammalian cells. J Biol Chem 272:24727-24730
17. Ohmiya N, Matsumoto S, Yamamoto H, Baranovskaya S, Malkhosyan SR, Perucho M (2001) Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype. Gene 272:301-313
18. Ouyang H, Furukawa T, Abe T, Kato Y, Horii A (1998) The BAX gene, the promoter of apoptosis, is mutated in genetically unstable cancers of the colorectum, stomach, and endometrium. Clin Cancer Res 4:1071-1074
19. Papadopoulos N, Lindblom A (1997) Molecular basis of HNPCC: Mutations of MMR genes. Hum Mutat 10:89-99
20. Papadopoulos N, Nicolaides NC, Liu B, Parsons B, Lengauer C, Palombo F, D'Arrigo A, Markowitz S, Willson JK, Kinzler KW, Jiricny J, Vogelstein B (1995) Mutations of GTBP in genetically unstable cells. Science 268:1915-1916
21. Parsons R, Myeroff LL, Liu B, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B (1995) Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer. Cancer Res 55:5548-5550
22. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
23. Prolla TA, Baker SM, Harris AC, Tsao JL, Yao X, Bronner CE, Zheng B, Gordon M, Reneker J, Arnheim N, Shibata D, Bradley A, Liskay RM (1998) Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat Genet 18:276-279
24. Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M (1997) Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 275:967-969
25. Ricciardone MD, Ozcelik T, Cevher B, Ozdag H, Tuncer M, Gurgey A, Uzunalimoglu O, Cetinkaya H, Tanyeli A, Erken E, Ozturk M (1999) Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 59:290-293
26. Upadhyaya M, Cooper DN (1998) The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. In: Upadhyaya M, Cooper DN (eds) Neurofibromatosis Type 1, From Genotype to Phenotype. BIOS Scientific, Oxford, pp 65-82
27. Vilkki S, Tsao JL, Loukola A, Poyhonen M, Vierimaa O, Herva R, Aaltonen LA, Shibata D (2001) Extensive somatic microsatellite mutations in normal human tissue. Cancer Res 61:4541-4544
28. Wang Q, Desseigne F, Lasset C, Saurin J-C, Navarro C, Yagci T, Kiser I, Bagci H, Luleci G, Gelen T, Chayvial J-A, Puisieux A, Ozturk M (1997) Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. Int J Cancer 73:831-836
29. Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, Ruano E, Puisieux A (1999) Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 59:294-297
30. Whiteside D, McLeod R, Graham G, Steckley JL, Booth K, Somerville MJ, Andrew SE (2002) A homozygous germ-line mutation in human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Cancer Res 62:359-362
31. Xu GF, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R et al. (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599-608
32. Yamamoto H, Sawai H, Perucho M (1997) Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res 57:4420-4426
33. Yamamoto H, Sawai H, Weber TK, Rodriguez-Bigas MA, Perucho M (1998) Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer. Cancer Res 58:997-1003