title: The role of CSA and CSB protein in the oxidative stress response.
abstract: Cockayne syndrome (CS) is a rare hereditary disorder in which infants suffer severe developmental and neurological alterations and early death. Two genes encoding RNA polymerase II cofactors, CSA and CSB, are mutated in this syndrome. CSA and CSB proteins are known to be involved in the transcription-coupled DNA repair pathway but the sensitivity of mutant cells to a number of physical/chemical agents besides UV radiation, such as ionizing radiation, hydrogen peroxide and bioenergetic inhibitors indicate that these proteins play a pivotal role in additional pathways. In this review we will discuss the evidence that implicate CS proteins in the control of oxidative stress response with special emphasis on recent findings that show an altered redox balance and dysfunctional mitochondria in cells derived from patients. Working models of how these new functions might be key to developmental and neurological disease in CS will be discussed.
authors.affiliation: Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.
authors.forename: Mariarosaria
authors.initials: M
authors.lastname: D'Errico
authors.forename: Barbara
authors.initials: B
authors.lastname: Pascucci
authors.forename: Egidio
authors.initials: E
authors.lastname: Iorio
authors.forename: Bennett
authors.initials: B
authors.lastname: Van Houten
authors.forename: Eugenia
authors.initials: E
authors.lastname: Dogliotti
mesh_terms: D000818:Animals; D003057:Cockayne Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D004260:DNA Repair; D045643:DNA Repair Enzymes / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D018384:Oxidative Stress; D000075223:Poly-ADP-Ribose Binding Proteins; D012319:RNA Polymerase II / Q000235:genetics / Q000378:metabolism*; D011839:Radiation, Ionizing; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism*; D014466:Ultraviolet Rays / Q000009:adverse effects
chemical_list: C095472:ERCC8 protein, human; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors; D012319:RNA Polymerase II; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes