Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 512-519

  Serra, Eduard ^a   Puig, Susana ^a   Otero, David ^a   Gaona, Antonia ^a   Kruyer, Helena ^a   Ars, Elisabet ^a   Estivill, Xavier ^a   Lázaro, Conxi ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

ALLELE; ARTICLE; CHROMOSOME 17; CHROMOSOME MAP; GENE DELETION; GENE LOCUS; HETEROZYGOSITY LOSS; HUMAN; NEUROFIBROMA; ONCOGENE RAS; PEDIGREE; PRIORITY JOURNAL; REGULATORY MECHANISM; SEQUENCE HOMOLOGY; TUMOR SUPPRESSOR GENE;

EID: 0030850675     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515504     Document Type: Article

References (43)

1. Andersen LB, Fountain JW, Gutmann DH, Tarlé SA, Glover TW, Dracopoli NC, Housman D, et al (1993) Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nat Genet 3:118-121
2. Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins FS (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63:851-859
3. Cawthon R, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, Robertson M, et al (1990) A major segement of neurofibromatosis type 1 gene: cDNA sequence, genomic structure and point mutations. Cell 62:193-201
4. Colman SD, Williams CA, Wallace MR (1995) Benign neurofibromas in type 1 neurofibromatosis (NFl) show somatic deletions of NF1 gene. Nat Genet 11:90-92
5. De Vitis LR, Tedde A, Vitelli F, Ammannati F, Mennonna P, Bigozzi U, Montali E, et al (1996) Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas. Hum Genet 97:632-637
6. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:A102-A107
7. 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
8. Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61:757-767
9. Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, et al (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 9:86-91
10. Glover TW, Stein CK, Legius E, Andersen LB, Brereton A, Johnson S (1991) Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis. Genes Chromosom Cancer 3:62-70
11. Ichii S, Horii A, Nakatsuru S, Furuyama J, Utsunomiya J, Nakamura Y (1992) Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP). Hum Mol Genet 1:387-390
12. Kamata Y (1978) Study of the ultrastructure and acetylcholinesterase activity in von Recklinghausen's neurofibromatosis. Acta Pathol Jpn 28:393-410
13. Knudson AG (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
14. Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, et al (1996) Sex differences in mutation rate and mutation mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 98:696-699
15. Legius E, Marchuk DA, Collins FS, Glover TW (1993) Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppresor gene hypothesis. Nat Genet 3:122-126
16. Levanat S, Gorlin RJ, Fallet S, Johnson DR, Fantasia JE, Bale AE (1996) A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 12:85-87
17. Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 69:275-281
18. Li Y, O'Connell P, Huntsman-Breidenbach H, Cawthon R, Stevens J, Xu G, Neil S, et al (1995) Genomic organization of the neurofibromatosis 1 gene. Genomics 25:9-18
19. Lothe RA, Slettan A, Saeter G, Brogger A, Borresen AL, Nesland JM (1995) Alterations at chromosome 17 loci in peripheral nerve sheath tumors. J Neuropathol Exp Neurol 54:65-73
20. Martin GA, Viskochil D, Bollag G, MvCabe PC, Crosier WJ, Haubruck H, Conroy L, et al (1990) The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 63:843-849
21. Menon AG, Anderson KM, Riccardi VM, Chung RY, Whaley JM, Yandell DW, Farmer GE, et al (1990) Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci USA 87: 5435-5439
22. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
23. Ottini L, Esposito DL, Richetta A, Carlesimo M, Palmirotta R, Veri MC, Battista P, et al (1995) Alterations of microsatellites in neurofibromas of von Recklinghausen's disease. Cancer Res 55:5677-5680
24. Rahman N, Arbour L, Tonin P, Renshaw J, Pelletier J, Baruchel S, Pritchard-Jones K, et al (1996) Evidence for a familial Wilm's tumor gene (FWT1) on chromosome 17q12-q21. Nat Genet 13:461-463
25. Riccardi VM (1992) Neurofibromatosis: phenotype, natural history, and pathogenesis. Johns Hopkins University Press, Baltimore
26. Rogers GR, Rizzo WB, Zlotogorski A, Hashem N, Lee M, Compton JG, Bale SJ (1995) Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. Am J Hum Genet 57:1123-1129
27. Rosenbaum T, Boissy YL, Kombrinck K, Brannan C, Jenkins N, Copeland NG, Ratner N (1995) Neurofibromin-deficient fibroblasts fail to form perineurium in vitro. Development 121:3583-3592
28. Sawada S, Florell S, Purandare SM, Ota M, Stephens K, Viskochil D (1996) Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet 14:110-112
29. Shannon KM, O'Connell P, Martin GA, Paderanga D, Olson K, Dinndorf P, McCormick F (1994) Loss of normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597-601
30. Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1(NF1). J Med Genet 33:2-17
31. 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
32. _ (1991) The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am J Hum Genet 49:600-607
33. Stark M, Assum G, Krone W (1995) Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene. Hum Genet 96:619-623
34. Stefansson K, Wollmann R, Jerkovic M (1982) S-100 protein in soft tissue tumors derived from Schwann cells and melanocytes. Am J Pathol 106:261-268
35. The I, Murthi AE, Hannigan GE, Jacoby LB, Menon AG, Gusella JF, Bernards A (1993) Neurofibromatosis type 1 gene mutations in neuroblastoma. Nat Genet 3:62-66
36. Upadhyaya M, Shaw DJ, Harper PS (1994) Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum Mutat 4:83-101
37. Viskochil D, Buchberg AM, Xu G, Stevens J, Wolff RK, Culver M, Carey J, et al (1990) Deletions and translocations interrrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192
38. Waggener JS (1966) Ultrastructure of benign peripheral nerve sheath tumors. Cancer 19:699-709
39. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Oden HM, Saulino AM, Fountain GW, et al (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:181-186
40. Wu Q, Chen M, Buchwald M, Philips RA (1995) A simple, rapid method for isolation of high quality genomic DNA from animal tissues. Nuceic Acids Res 23:5087-5088
41. Xu G, Lin B, Tanaka K, Dunn D, Wood D, Gesteland R, White R, et al (1990a) The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae. Cell 63:835-841
42. Xu G, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, et al (1990b) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599-608
43. Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CGP, Ponder BAJ (1992) Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis. Genes Chromosom Cancer 4:337-342