Cockayne Syndrome Group B Cellular and Biochemical Functions

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 transcrip...

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Bibliographic Details
Published in:American journal of human genetics 2003-12, Vol.73 (6), p.1217-1239
Main Authors: Licht, Cecilie Löe, Stevnsner, Tinna, Bohr, Vilhelm A.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Cockayne Syndrome - genetics
Cockayne Syndrome - physiopathology
DNA Helicases - genetics
DNA Helicases - physiology
DNA Repair - genetics
DNA Repair - physiology
DNA Repair Enzymes
General aspects. Genetic counseling
Humans
Medical genetics
Medical sciences
Models, Genetic
Poly-ADP-Ribose Binding Proteins
Review
Transcription, Genetic - genetics
Transcription, Genetic - physiology
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Description
Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/380399