ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

Cells from patients with the UV-sensitive nucleotide excision repair disorder Cockayne's syndrome (CS) have a specific defect in preferential repair of lesions from the transcribed strand of active genes. This system permits quick resumption of transcription after UV exposure. Here we report th...

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Bibliographic Details
Published inCell Vol. 71; no. 6; pp. 939 - 953
Main Authors Troelstra, Christine, van Gool, Alain, de Wit, Jan, Vermeulen, Wim, Bootsma, Dirk, Hoeijmakers, Jan H.J.
Format Journal Article
LanguageEnglish
Published Cambridge, MA Elsevier Inc 11.12.1992
Cell Press
Subjects
Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Cockayne Syndrome - enzymology
Cockayne Syndrome - genetics
Cockayne's syndrome
Complex syndromes
Conserved Sequence
DNA helicase
DNA Helicases - genetics
DNA repair
DNA Repair - genetics
DNA Repair Enzymes
ERCC6 gene
gene products
genes
Humans
man
Medical genetics
Medical sciences
Molecular Sequence Data
nucleotide sequence
Poly-ADP-Ribose Binding Proteins
predictions
Sequence Alignment
Sequence Homology, Amino Acid
Transcription, Genetic
Human
Cockayne syndrome
Enzyme
Gene product
Analog
Gene organization
Primary structure
Complex syndrome
Unwinding enzyme
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Summary:Cells from patients with the UV-sensitive nucleotide excision repair disorder Cockayne's syndrome (CS) have a specific defect in preferential repair of lesions from the transcribed strand of active genes. This system permits quick resumption of transcription after UV exposure. Here we report the characterization of ERCC6, a gene involved in preferential repair in eukaryotes. ERCC6 corrects the repair defect of CS complementation group B (CS-B). It encodes a protein of 1493 amino acids, containing seven consecutive domains conserved between DNA and RNA helicases. The entire helicase region bears striking homology to segments in recently discovered proteins involved in transcription regulation, chromosome stability, and DNA repair. Mutation analysis of a CS-B patient indicates that the gene is not essential for cell viability and is specific for preferential repair of transcribed sequences.
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ISSN:0092-8674
1097-4172
DOI:10.1016/0092-8674(92)90390-X