Abstract
Cockayne syndrome (CS) is a progressive developmental and neurodegenerative disorder resulting in premature death at childhood. CS is caused by mutations in either CSA or CSB genes with the majority of CS patients carrying mutations in CSB protein, well known for its role in transcription-coupled nucleotide excision repair. A hallmark feature of CS patients is the neurodegeneration, but the precise molecular causes of this defect remain enigmatic. Recent data suggest that CSB and to a lesser extent CSA play a crucial role in the coordinated regulation of transcription and chromatin remodeling activities that are required for adult neurogenesis and the proper transition of neural progenitor cells into the neuronal lineage. In this chapter, we will first give an updated description of the multifaceted clinical picture exhibited from CS patients with particular emphasis on the neurological aspects. Then, we will go through the connection between CSA and CSB protein activity and gene expression programs required for neuronal differentiation and maintenance. Finally, we will analyze the potential impact of CS proteins altered functionality on the neuropathology of CS patients.
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