First Author | Rotman G | Year | 1998 |
Journal | Hum Mol Genet | Volume | 7 |
Issue | 10 | Pages | 1555-63 |
PubMed ID | 9735376 | Mgi Jnum | J:50685 |
Mgi Id | MGI:1309583 | Doi | 10.1093/hmg/7.10.1555 |
Citation | Rotman G, et al. (1998) ATM: from gene to function. Hum Mol Genet 7(10):1555-63 |
abstractText | The identification of ATM, the gene responsible far the plelotropic recessive disease ataxia telangiectasia, has initiated extensive research to determine the functions of its multifaceted protein product. The ATM protein belongs to a family of protein kinases that share similarities at their C-terminal region with the catalytic domain of phosphatidylinositol 3-kinases, Studies with ataxia telangiectasia (A-T) cells and Atm-deficient mice have shown that ATM is a key regulator of multiple signaling cascades which respond to DNA strand breaks induced by damaging agents or by normal processes, such as meiotic or V(D)J recombination, These responses involve the activation of cell cycle checkpoints, DNA repair and apoptosis, Other roles outside the cell nucleus might be carried out by the cytoplasmic fraction of ATM. In addition, ATM appears to function as a 'caretaker', suppressing tumorigenesis in specific T cell lineages. |