Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair.

ABSTRACT: Cockayne syndrome (CS) is a progressive childhood neurodegenerative disorder associated with a DNA repair defect caused by mutations in either of two genes, CSA and CSB. These genes are involved in nucleotide excision repair (NER) of DNA damage from ultraviolet (UV) light, other bulky chemical adducts and reactive oxygen in transcriptionally active genes (transcription-coupled repair, TCR). For a long period it has been assumed that the symptoms of CS patients are all due to reduced TCR of endogenous DNA damage in the brain, together with unexplained unique sensitivity of specific neural cells in the cerebellum. Not all the symptoms of CS patients are however easily related to repair deficiencies, so we hypothesize that there are additional pathways relevant to the disease, particularly th

SUBMITTER: Cleaver JE 

PROVIDER: S-EPMC2100027 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature