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Cockayne syndrome group B cellular and biochemical functions Licht CL; Stevnsner T; Bohr VAAm J Hum Genet 2003[Dec]; 73 (6): 1217-39The 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.|Chromosome Mapping[MESH]|Cockayne Syndrome/*genetics/physiopathology[MESH]|DNA Helicases/*genetics/physiology[MESH]|DNA Repair Enzymes[MESH]|DNA Repair/*genetics/physiology[MESH]|Humans[MESH]|Models, Genetic[MESH]|Poly-ADP-Ribose Binding Proteins[MESH]|Transcription, Genetic/*genetics/physiology[MESH] |
