The role of the Cockayne syndrome protein

柯凯因综合征（CS）是一种毁灭性的常染色体隐性遗传病，其特征为神经变性、恶病质，是一种节段性早衰疾病。CSA和CSB突变是导致CS的主要原因。细胞核和线粒体DNA的氧化DNA损伤修复都存在缺陷，这可能是导致CS疾病特征的原因之一。之前，我们证明了CSB蛋白与PARP1蛋白相互作用，PARP1蛋白参与DNA损伤修复的早期步骤，并且这两种蛋白在细胞对氧化应激的反应中合作。

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.