Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Nat Genet. 2001 Jul;28(3):294-6. doi: 10.1038/90148.


Pure populations of neurofibroma-derived Schwann cells bearing both NF1 mutated alleles (NF1-/-) have been isolated from different neurofibromas showing loss of heterozygosity of nearly the entire 17q chromosome. By comparing molecular and fluorescent in situ hybridization analysis of these cells, we demonstrate mitotic recombination is the mechanism underlying this type of loss of heterozygosity leading to reduction to homozygosity of NF1 germline mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 17 / genetics
  • Genes, Neurofibromatosis 1 / genetics*
  • Germ-Line Mutation*
  • Homozygote
  • Humans
  • Loss of Heterozygosity
  • Mitosis / genetics*
  • Neurofibroma / genetics*
  • Neurofibromatosis 1 / genetics
  • Recombination, Genetic*
  • Schwann Cells / pathology