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

Christine Troelstra, Alain van Gool, Jan de Wit, Wim Vermeulen, Dirk Bootsma, Jan H.J. Hoeijmakers

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

649 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)939-953
Aantal pagina's15
TijdschriftCell
Volume71
Nummer van het tijdschrift6
DOI's
StatusGepubliceerd - 11 dec. 1992
Extern gepubliceerdJa

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