Each day tens of thousands of DNA single-strand breaks (SSBs) arise in every cell from the attack of deoxyribose and DNA bases by reactive oxygen species and other electrophilic molecules. DNA double-strand breaks (DSBs) also arise, albeit at a much lower frequency, from similar attacks and from the encounter of unrepaired SSBs and possibly other DNA structures by DNA replication forks. DSBs are also created during normal development of the immune system. Defects in the cellular response to DNA strand breaks underpin many human diseases, including disorders associated with cancer predisposition, immune dysfunction, radiosensitivity, and neurodegeneration. Here we provide an overview of the genetic diseases associated with defects in the repair/response to DNA strand breaks.

中文翻译：

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DNA链断裂修复和人类遗传病。

每天，由于活性氧和其他亲电分子对脱氧核糖和DNA碱基的攻击，每个细胞中都会产生成千上万的DNA单链断裂（SSB）。DNA双链断裂（DSB）也会以类似的攻击方式发生，并且由于DNA复制叉遇到未修复的SSB以及可能存在的其他DNA结构，虽然频率较低。在免疫系统正常发育过程中也会产生DSB。细胞对DNA链断裂的反应缺陷支持许多人类疾病，包括与癌症易感性，免疫功能障碍，放射敏感性和神经变性相关的疾病。在这里，我们提供了与DNA链断裂修复/反应缺陷相关的遗传疾病的概述。