Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

Nat Genet. 1993 Feb;3(2):118-21. doi: 10.1038/ng0293-118.


Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by progressive and variable involvement of tissues predominantly derived from the neural crest and a predisposition toward malignancies. The NF1 gene encodes neurofibromin, a GTPase-activating protein containing a GAP-related domain (NF1-GRD) that is capable of down-regulating ras by stimulating its intrinsic GTPase activity. We report a homozygous deletion of most of NF1 in one of eight malignant melanoma cell lines leading to loss of detectable mRNA and protein, as well as the apparent absence of protein and mRNA in another melanoma. This data suggests that NF1 can function as a tumour suppressor gene in the development or progression of malignant melanoma.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 17
  • DNA, Neoplasm / genetics
  • Gene Deletion
  • Genes, Neurofibromatosis 1*
  • Genes, Tumor Suppressor
  • Humans
  • Melanoma / genetics*
  • Mutation
  • Neurofibromin 1
  • Proteins / genetics
  • Transcription, Genetic
  • Tumor Cells, Cultured


  • DNA, Neoplasm
  • Neurofibromin 1
  • Proteins