The role of the Cockayne syndrome protein

National Institute On Aging

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Abstract

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.