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A multifaceted role for ATM in genome maintenance

Published online by Cambridge University Press:  13 February 2004

Tej K. Pandita
Affiliation:
Department of Radiation Oncology, Radiation and Cancer Biology Division, Washington University School of Medicine, 4511 Forest Park, St Louis, MO 63108, USA.

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.

Type
Review Article
Copyright
© Cambridge University Press 2003

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