ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
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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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Mammalian cells lacking CSB are UV sensitive.
“mammalian cells lacking CSB are UV sensitive (56)”
From A Role for Checkpoint Kinase-Dependent Rad26 Phosphorylation in Transcription-Coupled DNA Repair in <i>Saccharomyces cerevisiae</i> (2010) · cites this paper as [56]
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The DNA damage response to transcription stress
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Self-citationFormation and processing of UV photoproducts: effects of DNA sequence and chromatin environment
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DNA helicases: Enzymes with essential roles in all aspects of DNA metabolism
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RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6.
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Effect of DNA lesions on transcription elongation
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Mammalian Transcription-Coupled Excision Repair
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Self-citationDNA Repair Protein XPA Binds Replication Protein A (RPA)
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RetractedHHR23B, a Human Rad23 Homolog, Stimulates XPC Protein in Nucleotide Excision Repair In Vitro
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Self-citationCockayne syndrome B protein regulates the transcriptional program after UV irradiation
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Genomic heterogeneity of nucleotide excision repair
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DNA Oxidation and Excision Repair Pathways
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The small CRL4CSA ubiquitin ligase component DDA1 regulates transcription-coupled repair dynamics
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- Authors
- Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D., & Hoeijmakers, J. H. J.
- Affiliations
- Erasmus MC (NL)
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1992-12
- Volume
- 71
- Issue
- 6
- Pages
- 939-953
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2106695633
- Cited by
- 729
- References
- 93
- Citations by year
- 2026: 13 · 2025: 15 · 2024: 15 · 2023: 12 · 2022: 24 · 2021: 22 · 2020: 8 · 2019: 15 · 2018: 20 · 2017: 14 · 2016: 14 · 2015: 8 · 2014: 20 · 2013: 17 · 2012: 16
- FWCI
- 14.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- ERCC6, Cockayne syndrome, nucleotide excision repair, helicase, UV sensitivity, mutation analysis
- MeSH terms
- Poly-ADP-Ribose Binding Proteins, Amino Acid Sequence, Animals, Base Sequence, Cockayne Syndrome, DNA Repair, DNA Helicases, Humans, Molecular Sequence Data, Transcription, Genetic, Sequence Alignment, Conserved Sequence, Sequence Homology, Amino Acid, DNA Repair Enzymes
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