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DNA double-strand break signaling and human disorders

机译：DNA双链断裂信号和人类疾病

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DNA double-strand breaks are among the most serious types of DNA damage and their signaling and repair is critical for all cells and organisms. The repair of both induced and programmed DNA breaks is fundamental as demonstrated by the many human syndromes, neurodegenerative diseases, immunodeficiency and cancer associated with defective repair of these DNA lesions. Homologous recombination and non-homologous end-joining pathways are the two major DNA repair pathways responsible for mediating the repair of DNA double-strand breaks. The signaling of DNA double-strand breaks is critical for cells to orchestrate the repair pathways and maintain genomic integrity. This signaling network is highly regulated and involves a growing number of proteins and elaborated posttranslational modifications including phosphorylation and ubiquitylation. Here, we highlight the recent progress in the signaling of DNA double-strand breaks, the major proteins and posttranslational modifications involved and the diseases and syndromes associated with impaired signaling of these breaks.
机译：DNA双链断裂是最严重的DNA损伤类型之一，其信号传导和修复对所有细胞和生物都至关重要。如许多人类综合征，神经退行性疾病，免疫缺陷和与这些DNA损伤修复不良相关的癌症所证明的，诱导和程序化的DNA断裂的修复都是至关重要的。同源重组和非同源末端连接途径是负责介导DNA双链断裂修复的两个主要DNA修复途径。 DNA双链断裂的信号对于细胞编排修复途径和维持基因组完整性至关重要。该信号网络受到高度调节，涉及越来越多的蛋白质和详尽的翻译后修饰，包括磷酸化和泛素化。在这里，我们重点介绍了DNA双链断裂的信号传导，涉及的主要蛋白质和翻译后修饰以及与这些断裂的信号减弱相关的疾病和综合症的最新进展。

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