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

Lone B. Andersen, Jane W. Fountain, David H. Gutmann, Susan A. Tarlé, Thomas W. Glover, Nicholas C. Dracopoli, David E. Housman, Francis S. Collins

Research output: Contribution to journalArticlepeer-review

135 Scopus citations

Abstract

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 GA-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.

Original languageEnglish
Pages (from-to)118-121
Number of pages4
JournalNature Genetics
Volume3
Issue number2
DOIs
StatePublished - Feb 1993

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