Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM

J Biol Chem. 2002 Aug 23;277(34):30515-23. doi: 10.1074/jbc.M203801200. Epub 2002 May 28.

Abstract

Chromosome aberrations, genomic instability, and cancer predisposition are hallmarks of a number of syndromes in which the defective genes recognize and/or repair DNA damage or are involved in some aspect of DNA processing. We report here direct interaction between BLM, mutated in Bloom's Syndrome (BS), and ATM, mutated is ataxia-telangiectasia, and we have mapped the sites of interaction. Full-length BLM cDNA corrected sister chromatid exchange (SCE) and radiosensitivity in BS cells. Mitotic phosphorylation of BLM was partially dependent on ATM, and phosphorylation sites on BLM were identified. A phosphospecific antibody against one of these sites (Thr-99) revealed radiation-induced phosphorylation, which was defective in ataxia-telangiectasia cells. Stable cell lines expressing phosphorylation site mutants failed to correct radiosensitivity in BS cells but corrected SCE. These mutants also sensitized normal control cells to radiation and increased radiation-induced chromosome aberrations but did not cause SCE numbers to increase. These data suggest that ATM and BLM function together in recognizing abnormal DNA structures by direct interaction and that these phosphorylation sites in BLM are important for radiosensitivity status but not for SCE frequency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / chemistry
  • Adenosine Triphosphatases / physiology*
  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia Mutated Proteins
  • Bloom Syndrome / genetics*
  • Cell Cycle Proteins
  • Cell Survival / radiation effects
  • DNA Helicases / chemistry
  • DNA Helicases / physiology*
  • DNA-Binding Proteins
  • Humans
  • Mitosis
  • Phosphorylation
  • Precipitin Tests
  • Protein Serine-Threonine Kinases / chemistry
  • Protein Serine-Threonine Kinases / physiology*
  • Radiation Tolerance
  • RecQ Helicases
  • Sister Chromatid Exchange
  • Tumor Suppressor Proteins

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases
  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • DNA Helicases
  • RecQ Helicases