Front. Genet., 25 March 2013 | doi: 10.3389/fgene.2013.00037

The ATM signaling network in development and disease

  • 1Oncology Programme, Institute for Research in Biomedicine (IRB Barcelona), Barcelona, Spain
  • 2Departament de Biologia Cellular, Fisiologia i Immunologia, Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, Barcelona, Spain

The DNA damage response (DDR) rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity. This includes the coordination of cell cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence (Jackson and Bartek, 2009). DNA double-strand breaks (DSBs) represent one of the most cytotoxic DNA lesions and defects in their metabolism underlie many human hereditary diseases characterized by genomic instability (Stracker and Petrini, 2011; McKinnon, 2012). Patients with hereditary defects in the DDR display defects in development, particularly affecting the central nervous system, the immune system and the germline, as well as aberrant metabolic regulation and cancer predisposition. Central to the DDR to DSBs is the ataxia-telangiectasia mutated (ATM) kinase, a master controller of signal transduction. Understanding how ATM signaling regulates various aspects of the DDR and its roles in vivo is critical for our understanding of human disease, its diagnosis and its treatment. This review will describe the general roles of ATM signaling and highlight some recent advances that have shed light on the diverse roles of ATM and related proteins in human disease.

Keywords: ataxia-telangiectasia, Nijmegen breakage syndrome, AT like disease, ATM, Mre11 complex, apoptosis, senescence, DNA repair

Citation: Stracker TH, Roig I, Knobel PA and Marjanović M (2013) The ATM signaling network in development and disease. Front. Genet. 4:37. doi: 10.3389/fgene.2013.00037

Received: 29 January 2013; Accepted: 04 March 2013;
Published online: 25 March 2013.

Edited by:

Antonio Porro, Ecole Polytechnique Federale de Lausanne, Switzerland

Reviewed by:

Angelos Constantinou, Institute of Human Genetics, France
Atan Gross, The Weizmann Institute of Science, Israel

Copyright: © 2013 Stracker, Roig, Knobel and Marjanović. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc.

*Correspondence: Travis H. Stracker, Oncology Programme, Institute for Research in Biomedicine (IRB Barcelona), Parc Científic de Barcelona C/ Baldiri Reixac 10, 08028 Barcelona, Spain. e-mail:

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