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

Nature Genetics volume 3, pages 118–121 (1993)Cite this article

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 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.

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Authors and Affiliations

  1. Howard Hughes Medical Institute, and the Departments of Internal Medicine, Human Genetics, University of Michigan, MSRB II, 1150 W. Medical Center Drive, Ann Arbor, Michigan, 48109, USA

    Lone B. Andersen, David H. Gutmann, Susan A. Tarlé & Francis S. Collins

  2. Department of Pediatrics, University of Michigan, MSRB II, 1150 W. Medical Center Drive, Ann Arbor, Michigan, 48109, USA

    Thomas W. Glover

  3. Center for Cancer Research, Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, 02139, USA

    Jane W. Fountain & David E. Housman

  4. Center for Genome Research, Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, 02139, USA

    Nicholas C. Dracopoli

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  1. Lone B. Andersen
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  2. Jane W. Fountain
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  8. Francis S. Collins
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Andersen, L., Fountain, J., Gutmann, D. et al. Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nat Genet 3, 118–121 (1993). https://doi.org/10.1038/ng0293-118

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