The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest- derived sporadic tumours

A. Murgia, F. Anglani, C. Vinanzi, R. Polli, G. Basso, G. Perilongo, F. Giangaspero, F. Zacchello

Research output: Contribution to journalArticlepeer-review

Abstract

We conducted a mutation analysis of the most conserved region of the neurofibromatosis type 1 (NF1) gene, the guanine triphosphatase (GTPase) activating protein (GAP)-related domain (NF1 GRD), to which the function of tumour suppressor is attributed. Sixty primary neuroectodermal tumours were analysed. The rationale for the study was based on the likelihood of finding structural alterations resulting in loss of function of this region in tumours of neuroepithelial tissues, where the activity of neurofibromin seems to be crucial in regulating the mechanisms of signal transduction and cell transformation mediated by p21 ras. Following analysis of the whole NF1 GRD sequence, no mutations were identified in the tumours analysed. We conclude that the loss of NF1 gene tumour suppressor function, that might lead or contribute to the development of malignancies in neuroectodermal tissues, is not due to structural abnormalities of the region of the gene which interacts with p21 ras.

Original languageEnglish
Pages (from-to)577-579
Number of pages3
JournalEuropean Journal of Cancer
Volume34
Issue number4
DOIs
Publication statusPublished - Mar 1998

Keywords

  • GAP-related domain neuroectodermal tumour
  • GTPase- activating protein
  • Neurofibromatosis type 1
  • Neurofibromin tumour suppressor gene

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology

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