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• W2611296766 abstract "Ataxia telangiectasia mutated (ATM) encodes a serine/threonine protein kinase, which is involved in various regulatory processes in mammalian cells. Its best-known role is apical activation of the DNA damage response following generation of DNA double-strand breaks (DSBs). When DSBs appear, sensor and mediator proteins are recruited, activating transducers such as ATM, which in turn relay a widespread signal to a multitude of downstream effectors. ATM mutation causes Ataxia telangiectasia (AT), whereby the disease phenotype shows differing characteristics depending on the underlying ATM mutation. However, all phenotypes share progressive neurodegeneration and marked predisposition to malignancies at the organismal level and sensitivity to ionizing radiation and chromosome aberrations at the cellular level. Expression and localization of the ATM protein can be determined via western blotting and immunofluorescence microscopy; however, detection of subtle alterations such as resulting from amino acid exchanges rather than truncating mutations requires functional testing. Previous studies on the role of ATM in DSB repair, which connects with radiosensitivity and chromosomal stability, gave at first sight contradictory results. To systematically explore the effects of clinically relevant ATM mutations on DSB repair, we engaged a series of lymphoblastoid cell lines (LCLs) derived from AT patients and controls. To examine DSB repair both in a quantitative and qualitative manners, we used an EGFP-based assay comprising different substrates for distinct DSB repair mechanisms. In this way, we demonstrated that particular signaling defects caused by individual ATM mutations led to specific DSB repair phenotypes. To explore the impact of ATM on carcinogenic chromosomal aberrations, we monitored chromosomal breakage at a breakpoint cluster region hotspot within the MLL gene that has been associated with therapy-related leukemia. PCR-based MLL-breakage analysis of HeLa cells treated with and without pharmacological kinase inhibitors revealed ATM-dependent chromatin remodeling at the MLL break site giving access to DNA repair proteins but also nucleases triggering MLL rearrangements. This chapter summarizes these methods for functional characterization of ATM in patient LCLs and human cell lines." @default.
• W2611296766 created "2017-05-12" @default.
• W2611296766 creator A5007459786 @default.
• W2611296766 creator A5054485985 @default.
• W2611296766 date "2017-01-01" @default.
• W2611296766 modified "2023-09-25" @default.
• W2611296766 title "Phenotypic Analysis of ATM Protein Kinase in DNA Double-Strand Break Formation and Repair" @default.
• W2611296766 cites W1541806623 @default.
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• W2611296766 cites W1969093811 @default.
• W2611296766 cites W1977923363 @default.
• W2611296766 cites W1981942880 @default.
• W2611296766 cites W1983410191 @default.
• W2611296766 cites W1985165882 @default.
• W2611296766 cites W1985623956 @default.
• W2611296766 cites W1986219973 @default.
• W2611296766 cites W1996910195 @default.
• W2611296766 cites W1999348374 @default.
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• W2611296766 doi "https://doi.org/10.1007/978-1-4939-6955-5_23" @default.
• W2611296766 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28477129" @default.
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