Recurrent 1;17 translocations in human neuroblastoma reveal nonhomologous mitotic recombination during the S/G2 phase as a novel mechanism for loss of heterozygosity

Am J Hum Genet. 1994 Aug;55(2):341-7.


Neuroblastomas often show loss of heterozygosity of the chromosomal region 1p36 (LOH 1p), probably reflecting loss of a tumor-suppressor gene. Here we describe three neuroblastoma tumors and two cell lines in which LOH 1p results from an unbalanced translocation between the p arm of chromosome 1 and the q arm of chromosome 17. Southern blot and cytogenetic analyses show that in all cases the chromosome 17 homologue from which the 1;17 translocation was derived is still present and intact. This suggests a model in which a translocation between the short arm of chromosome 1 and the long arm of chromosome 17 takes place in the S/G2 phase of the cell cycle and results in LOH 1p. Nonhomologous mitotic recombination in the S/G2 phase is a novel mechanism of LOH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Blotting, Southern
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 17*
  • G2 Phase
  • Gene Deletion
  • Genes, Tumor Suppressor / genetics
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mitosis
  • Neuroblastoma / genetics*
  • S Phase
  • Translocation, Genetic*
  • Tumor Cells, Cultured