Possible association of BLM in decreasing DNA double strand breaks during DNA replication

EMBO J. 2000 Jul 3;19(13):3428-35. doi: 10.1093/emboj/19.13.3428.

Abstract

Bloom's syndrome (BS) is a rare genetic disorder and the cells from BS patients show genomic instability and an increased level of sister chromatid exchange (SCE). We generated BLM(-/-) and BLM(-/-)/RAD54(-/-) DT40 cells from the chicken B-lymphocyte line DT40. The BLM(-/-) DT40 cells showed higher sensitivity to methyl methanesulfonate and elevated levels of SCE as expected. The targeted integration frequency was also increased remarkably in BLM(-/-) cells. The SCE frequency increase in BLM(-/-) cells was considerably reduced and the enhanced targeted integration observed in BLM(-/-) cells was almost completely abolished in BLM(-/-)/RAD54(-/-) cells, indicating that a large portion of the SCE in BLM(-/-) cells occurs via homologous recombination, and homologous recombination events increase with the defect of BLM function. The BLM(-/-)/RAD54(-/-) cells showed a slow growth phenotype and an increased incidence of chromosome-type breaks/gaps while each single mutant showed relatively small numbers of chromosome-type breaks/gaps.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / chemistry
  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism*
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Bloom Syndrome / metabolism
  • Camptothecin / pharmacology
  • Cell Cycle
  • Cells, Cultured
  • Chickens
  • Chromosome Aberrations
  • DNA Damage*
  • DNA Helicases / chemistry
  • DNA Helicases / genetics
  • DNA Helicases / metabolism*
  • DNA Primers
  • DNA Repair Enzymes
  • DNA Replication*
  • Etoposide / pharmacology
  • Fungal Proteins / genetics
  • Methyl Methanesulfonate / pharmacology
  • Molecular Sequence Data
  • RecQ Helicases
  • Saccharomyces cerevisiae Proteins*
  • Sequence Homology, Amino Acid

Substances

  • DNA Primers
  • Fungal Proteins
  • Saccharomyces cerevisiae Proteins
  • Etoposide
  • Methyl Methanesulfonate
  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • RAD54 protein, S cerevisiae
  • DNA Helicases
  • RecQ Helicases
  • DNA Repair Enzymes
  • Camptothecin