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Cockayne syndrome group B cellular and biochemical functions.

ABSTRACT: 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.

SUBMITTER: Licht CL

PROVIDER: S-EPMC1180389 | biostudies-literature | 2003 Dec

REPOSITORIES: biostudies-literature

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Cockayne syndrome group B cellular and biochemical functions.

Licht Cecilie Löe CL Stevnsner Tinna T Bohr Vilhelm A VA

American journal of human genetics 20031124 6

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 ...[more]

PMID: 14639525

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