The role of the Cockayne syndrome protein

Cockayne综合征（CS）是一种以神经退行性变、恶病质为特征的常染色体隐性遗传疾病，是一种节段性早衰症。CSA和CSB的突变主要导致CS。在核和线粒体DNA中存在氧化DNA损伤修复的缺陷，这可能有助于CS疾病的特征。以前，我们证明了CSB蛋白与PARP1相互作用，PARP1是一种参与DNA损伤修复早期步骤的蛋白质，并且这两种蛋白质在细胞对氧化应激的反应中相互作用。 最近，CSB与LEO1在转录阻断病变的物理和功能相互作用的报道。这提供了关于CS蛋白在转录中的作用的新认识。CS蛋白在多个修复途径中发挥作用，它们的不同作用对基因组稳定性和过早衰老特征有影响。我们正在继续研究CS蛋白在DNA损伤和修复中的作用。

Cockayne syndrome (CS) is a devastating autosomal recessive disease characterized by neurodegeneration, cachexia, and is a segmental premature aging disorder. Mutations in CSA and CSB predominantly cause CS. There are deficiencies in the repair of oxidative DNA damage in both nuclear and mitochondrial DNA, and this may contribute to CS disease features. Previously, we demonstrated that the CSB protein interacts with PARP1, a protein involved in the early steps of DNA damage repair, and that these two proteins cooperate in the cellular responses to oxidative stress. More recently, CSBs physical and functional interactions with LEO1 at transcription-blocking lesions were reported. This provides new understanding about the role of the CS protein in transcription. CS proteins function in multiple repair pathways and their diverse roles have implications for genome stability and premature aging features. We are continuing to investigate the role of CS proteins in DNA damage and repair.