Cockayne syndrome group B cellular and biochemical functions

Am J Hum Genet. 2003 Dec;73(6):1217-39. doi: 10.1086/380399. Epub 2003 Nov 24.


The devastating genetic disorder Cockayne syndrome (CS) arises from mutations in the CSA and CSB genes. CS is characterized by progressive multisystem degeneration and is classified as a segmental premature-aging syndrome. The CS complementation group B (CSB) protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription. Recent structure-function studies indicate a process-dependent variation in the molecular mechanism employed by CSB and provide a starting ground for a description of the mechanisms and their interplay.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Mapping
  • Cockayne Syndrome / genetics*
  • Cockayne Syndrome / physiopathology
  • DNA Helicases / genetics*
  • DNA Helicases / physiology
  • DNA Repair / genetics*
  • DNA Repair / physiology
  • DNA Repair Enzymes
  • Humans
  • Models, Genetic
  • Poly-ADP-Ribose Binding Proteins
  • Transcription, Genetic / genetics*
  • Transcription, Genetic / physiology


  • Poly-ADP-Ribose Binding Proteins
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes