Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance

Biomed Res Int. 2014:2014:787404. doi: 10.1155/2014/787404. Epub 2014 Aug 28.

Abstract

The mammalian protein kinase ataxia telangiectasia mutated (ATM) is a key regulator of the DNA double-strand-break response and belongs to the evolutionary conserved phosphatidylinositol-3-kinase-related protein kinases. ATM deficiency causes ataxia telangiectasia (AT), a genetic disorder that is characterized by premature aging, cerebellar neuropathy, immunodeficiency, and predisposition to cancer. AT cells show defects in the DNA damage-response pathway, cell-cycle control, and telomere maintenance and length regulation. Likewise, in Saccharomyces cerevisiae, haploid strains defective in the TEL1 gene, the ATM ortholog, show chromosomal aberrations and short telomeres. In this review, we outline the complex role of ATM/Tel1 in maintaining genomic stability through its control of numerous aspects of cellular survival. In particular, we describe how ATM/Tel1 participates in the signal transduction pathways elicited by DNA damage and in telomere homeostasis and its importance as a barrier to cancer development.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Cell Survival / genetics*
  • DNA / genetics*
  • DNA Damage / genetics*
  • Genomic Instability / genetics*
  • Humans
  • Telomere / genetics*
  • Telomere Homeostasis / genetics*

Substances

  • DNA
  • Ataxia Telangiectasia Mutated Proteins