title: Neurofibromatosis type 1 gene mutations in neuroblastoma.
abstract: The introduction of human chromosome 17 suppresses the tumourigenicity of a neuroblastoma cell line in the absence of any effects on in vitro growth and the neurofibromatosis type 1 (NF1) gene may be responsible. Here we report that 4 out of 10 human neuroblastoma lines express little or no neurofibromin and that two of these lines show evidence of NF1 mutations, providing further proof that NF1 mutations occur in tumours that are not commonly found in NF1 patients. We also show that NF1 deficient neuroblastomas show only moderately elevated ras-GTP levels, in contrast to NF1 tumour cells, indicating that neurofibromin contributes differently to the negative regulation of ras in different cell types.
authors: Molecular Neurogenetics Unit, Massachusetts General Hospital, St. Charlestown 02129.
authors: I
authors: I
authors: The
authors: A E
authors: AE
authors: Murthy
authors: G E
authors: GE
authors: Hannigan
authors: L B
authors: LB
authors: Jacoby
authors: A G
authors: AG
authors: Menon
authors: J F
authors: JF
authors: Gusella
authors: A
authors: A
authors: Bernards
mesh_terms: D016475:3T3 Cells; D000595:Amino Acid Sequence; D000818:Animals; D002886:Chromosomes, Human, Pair 17; D016514:Genes, Neurofibromatosis 1; D006160:Guanosine Triphosphate / Q000378:metabolism; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009447:Neuroblastoma / Q000235:genetics* / Q000378:metabolism; D025542:Neurofibromin 1; D011233:Precipitin Tests; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D016283:Proto-Oncogene Proteins p21(ras) / Q000378:metabolism; D014407:Tumor Cells, Cultured
chemical_list: D025542:Neurofibromin 1; D011506:Proteins; D006160:Guanosine Triphosphate; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)