A multifaceted role for ATM in genome maintenance

Tej K. Pandita

Research output: Contribution to journalReview article

39 Scopus citations

Abstract

The pleiotropic nature of the clinical phenotypes of patients with ataxia-telangiectasia (A-T)-which encompass cerebellar degeneration (leading to ataxia), gonadal atrophy, and cancer predisposition-suggests multiple functions of the gene responsible for the disease. The ataxia-telangiectasia mutated gene product (ATM), whose loss of function is responsible for ataxia-telangiectasia, is a protein kinase that interacts with several substrates and is implicated in mitogenic signal transduction, chromosome condensation, meiotic recombination, cell-cycle control and telomere maintenance. This review focuses on the critical roles that ATM appears to play in cell-cycle checkpoints, DNA repair, telomere metabolism and oxidative stress, indicating how defects in these processes might lead to ataxia-telangiectasia.

Original languageEnglish (US)
JournalExpert Reviews in Molecular Medicine
Volume5
Issue number16
DOIs
StatePublished - Jun 20 2003

Keywords

  • A-T
  • ataxia telangiectasia
  • ATM
  • cancer
  • DNA damage
  • neurodegeneration
  • signal transduction

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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