Chapter category: DNA Surveillance and Repair

DNA Damage and Repair in Ataxia Telangiectasia

This chapter appears in the following book:

Molecular Mechanisms
of Ataxia Telangiectasia

Edited by: Shamim I. Ahmad
ISBN: TBA
» Get more information about this book at landesbioscience.com «

Chapter authors:
Melissa M. Adams and Phillip Carpenter

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Defects in the gene Ataxia Telangiectasia Mutated (ATM) are responsible for the development of Ataxia Telangiectasia (AT), an incurable cancer‑prone disease that is accompanied by a pleiotropic set of conditions including, amongst others, neurological and immunological deficiencies. ATM is a large protein kinase that controls numerous cellular processes, particularly those involved with maintaining chromosome stability. In recent years, a wealth of data has shown that ATM regulates multiple events throughout the cell cycle, including replication origin firing, telomere dysfunction and programmed events at antigen receptor loci in T-and B-cells of lymphoid origin. As all of these processes utilize DNA‑double stranded break (DSB) intermediates, ATM suppresses the generation of DSB‑inducing translocation events through regulating multiple pathways. Here, we discuss the activation and role of ATM kinase and its closely associated factors in maintaining chromosomal stability in various DSB signaling pathways. Notably, we highlight some recent advances suggesting that ATM suppresses chromosomal translocations in lymphoid cells through its role in maintaining free DNA ends during DNA end joining, a process that links DSB repair, chromatin function and, the development of lymphoma.

Melissa M. Adams

Phillip Carpenter
Department of Biochemistry and Molecular Biology, University of Texas Health Science Center, Houston, TX

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Additional chapters from this book:

Oncogenesis in Ataxia Telangectasia: Roles of ATM, p53, NF‑kB and DDE Recombination Pathogenesis

David H. Dreyfus

The mechanistic basis of ATM (Ataxia Telangectasis Mutated) protein interactions with DNA hairpin and related double stranded DNA breaks, generated through V(D)J recombination, has been the subject of...

Cell Signaling in Ataxia Telangiectasia

Tetsuo Nakajima

Ataxia-telangiectasia (AT) is a disease with pleiotropic defects that include hypersensitivity to ionizing radiation, immunodeficiency and increased cancer risk and Ataxia Telangiectasia Mutated (ATM)...

Protein‑Protein Interactions in Ataxia Telangiectasia

Steven M. Shell and Yue Zou

Ataxia telangiectasia (AT) is an early‑onset genetic disorder characterized by progressive neurondegeneration, chromosome instability and an extreme sensitivity to DNA damaging agents such as io...

Ataxia Telangiectasia and its Overlap with Nijmegen Breakage Syndrome and Ataxia‑Like Disorders

Lindsay G. Ball and Wei Xiao

Ataxia Telangiectasia (AT), Nijmegen Breakage Syndrome (NBS) and AT‑Like Disorder (ATLD) are three closely related human diseases. AT, NBS and ATLD share several prominent cellular phenotypes in...

DNA Damage and Repair in Ataxia Telangiectasia

Melissa M. Adams and Phillip Carpenter

Defects in the gene Ataxia Telangiectasia Mutated (ATM) are responsible for the development of Ataxia Telangiectasia (AT), an incurable cancer‑prone disease that is accompanied by a pleiotropic ...

Cell Cycle Defects and Apoptosis in Ataxia telangiectasia

Deborah Wilsker and Fred Bunz

ATM is a key regulator of both cell cycle checkpoints and apoptosis. Cells lacking ATM are defective in critical responses to damaged DNA and particularly to the double strand DNA breaks caused by ion...

Ataxia Telangiectasia: An Oxidative Stress‑Related Disease

Giovanni Pagano, Paolo Degan and Giuseppe Castello

Multi‑factorial information is available on Ataxia Telangiectasia (AT) phenotype associated with oxidative stress. First, the protein encoded by the AT gene (ATM) is involved in both the regulat...

Chromosomal Instability in Ataxia Telangiectasia

Luitpold V. Distel

Ataxia telangiectasia (AT) is a syndrome with multiple symptoms, of them one is the frequent and early onset of cancer. The disease is triggered by a mutation in the ATM‑gene. The gene and its e...

Chapter category: DNA Surveillance and Repair

DNA Damage and Repair in Ataxia Telangiectasia

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