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 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.
Troelstra
C
C
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
van Gool
A
A
de Wit
J
J
Vermeulen
W
W
Bootsma
D
D
Hoeijmakers
J H
JH
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003057:Cockayne Syndrome / Q000201:enzymology / Q000235:genetics*; D017124:Conserved Sequence; D004265:DNA Helicases / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D045643:DNA Repair Enzymes; D006801:Humans; D008969:Molecular Sequence Data; D000075223:Poly-ADP-Ribose Binding Proteins; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic
D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes