Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 protein

Genes Dev. 1999 Apr 15;13(8):978-86. doi: 10.1101/gad.13.8.978.

Abstract

Specific mutations in some tumor suppressor genes such as p53 can act in a dominant fashion. We tested whether this mechanism may also apply for the neurofibromatosis type-2 gene (NF2) which, when mutated, leads to schwannoma development. Transgenic mice were generated that express, in Schwann cells, mutant NF2 proteins prototypic of natural mutants observed in humans. Mice expressing a NF2 protein with an interstitial deletion in the amino-terminal domain showed high prevalence of Schwann cell-derived tumors and Schwann cell hyperplasia, whereas those expressing a carboxy-terminally truncated protein were normal. Our results indicate that a subset of mutant NF2 alleles observed in patients may encode products with dominant properties when overexpressed in specific cell lineages.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Humans
  • Hyperplasia / etiology*
  • Hyperplasia / pathology
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mice
  • Mice, Transgenic
  • Mutagenesis
  • Neurilemmoma / etiology*
  • Neurilemmoma / pathology
  • Neurofibromin 2
  • Rabbits
  • Rats
  • Schwann Cells*

Substances

  • Membrane Proteins
  • Neurofibromin 2