Cancer predisposition caused by elevated mitotic recombination in Bloom mice

Nat Genet. 2000 Dec;26(4):424-9. doi: 10.1038/82548.


Bloom syndrome is a disorder associated with genomic instability that causes affected people to be prone to cancer. Bloom cell lines show increased sister chromatid exchange, yet are proficient in the repair of various DNA lesions. The underlying cause of this disease are mutations in a gene encoding a RECQ DNA helicase. Using embryonic stem cell technology, we have generated viable Bloom mice that are prone to a wide variety of cancers. Cell lines from these mice show elevations in the rates of mitotic recombination. We demonstrate that the increased rate of loss of heterozygosity (LOH) resulting from mitotic recombination in vivo constitutes the underlying mechanism causing tumour susceptibility in these mice.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Alleles
  • Animals
  • Base Sequence
  • Bloom Syndrome / complications*
  • Bloom Syndrome / genetics*
  • Bloom Syndrome / pathology
  • DNA Helicases / genetics
  • DNA Primers / genetics
  • Disease Models, Animal
  • Humans
  • Loss of Heterozygosity
  • Meiosis / genetics
  • Mice
  • Mice, Mutant Strains
  • Mitosis / genetics*
  • Neoplasms, Experimental / etiology*
  • Neoplasms, Experimental / genetics*
  • Neoplasms, Experimental / pathology
  • Phenotype
  • RecQ Helicases
  • Recombination, Genetic*


  • DNA Primers
  • Adenosine Triphosphatases
  • RECQL protein, human
  • DNA Helicases
  • RecQ Helicases