ATM: the product of the genemutated in ataxia-telengiectasia

Lavin, M. F. (1999) ATM: the product of the genemutated in ataxia-telengiectasia. Int Journal of Biochemistry and Cell Biology, 31 7: 735-740. doi:10.1016/S1357-2725(99)00028-X

Author Lavin, M. F.
Title ATM: the product of the genemutated in ataxia-telengiectasia
Journal name Int Journal of Biochemistry and Cell Biology   Check publisher's open access policy
ISSN 1357-2725
Publication date 1999-07-01
Sub-type Article (original research)
DOI 10.1016/S1357-2725(99)00028-X
Volume 31
Issue 7
Start page 735
End page 740
Total pages 6
Place of publication UK
Publisher Elsevier
Language eng
Subject C1
730107 Inherited diseases (incl. gene therapy)
320305 Medical Biochemistry - Proteins and Peptides
Abstract Ataxia-telangiectasia mutated (ATM) is the product of the gene mutated in the human genetic disorder ataxia-telangeictasia (A-T). It is a 370 kDa protein that is a member of the phosphatidyl inositol 3-kinases superfamily. A-T cells and those derived from Atm−/− mice are characterized by hypersensitivity to ionizing radiation and defective cell cycle checkpoints. Defects are observed at all cell cycle checkpoints in A-T cells post-irradiation including the G1/S interface where ATM plays an important role in the activation of the tumour suppressor gene product p53. Activation leads to the induction of p21/WAF1, inhibition of cyclin-dependent kinase activity, failure to phosphorylate key substrates such as the retinoblastoma protein and consequently G1 arrest. ATM also plays an important role in the regulation and surveillance of meiotic progression. Absence of ATM gives rise to a spectrum of defects including immunodeficiency, neurodegeneration, radiosensitivity and cancer predisposition. It is clear that a better definition of the role of ATM in DNA damage recognition, cell cycle control and cell signalling may assist in the treatment of the progressive neurodegeneration in this syndrome.
Keyword gene mutation
ataxia telangiectasia
DNA damage
protein p53
gene product
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 26 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 27 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 10 Jun 2008, 23:47:07 EST