ATM: Genome stability, neuronal development, and cancer cross paths

摘要: One of the cornerstones web signaling pathways governing cellular life and differentiation is DNA damage response. It spans a complex network pathways, ranging from repair to modulation numerous processes in cell. double-strand breaks (DSBs), which are formed as result genotoxic stress or normal recombinational processes, extremely lethal lesions that rapidly mobilize this intricate defense system. The master controller pilots responses DSBs ATM protein kinase, turns on by phosphorylating key players its various branches. product gene mutated human genetic disorder ataxia-telangiectasia (A-T), characterized neuronal degeneration, immunodeficiency, sterility, genomic instability, cancer predisposition, radiation sensitivity. clinical phenotype A-T attests roles ATM, one hand, link between response developmental other hand. Recent studies effectors, combined with thorough investigation animal models A-T, have led new insights into mode action evidence involved than those related response, particularly ones relating growth differentiation, reinforces multifaceted nature protein, genome stability, cross paths.