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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

657 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)939-953
Number of pages15
JournalCell
Volume71
Issue number6
DOIs
Publication statusPublished - 11 Dec 1992

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