Cited by 729DNA Repair MechanismsNuclear Structure and FunctionGenetic factors in colorectal cancer

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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Troelstra, Christine, van Gool, Alain, de Wit, Jan, Vermeulen, Wim, Bootsma, Dirk, Hoeijmakers, Jan H.J.·1992·Cell

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.

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  1. Bang, D. D., Verhage, R., Goosen, N., Brouwer, J., and van der Putte, P. (1992). Molecular cloning of RADl8, a gene involved in differential repair in Saccbafomyces cefevisiee. Nucl. Acids Res., in press.
  2. Laurent, B. C., Treitel, M. A., and Carlson, M. (1991). Functional inter- dependence of the yeast SNFZ, SNF5, and SNF6 proteins in transcrip- tional activation. Proc. Natl. Acad. Sci. USA 88, 2887-2891.
  3. Oh, E. Y., and Grossman, L. (1987). Helicase properties of the Esche- richia co/i UvrAB protein complex. Proc. Natl. Acad. Sci. USA 84, 3638-3642.
  4. Sambrook, J.. Fritsch, E. F., and Maniatis, T. (1989). Molecular Clon- ing: A Laboratory Manual, Second Edition (Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press).
  5. Venema, J. (1991). Gene specific repair of UV-induced DNA damage in mammalian cells. PhD thesis, State University of Leiden, Leiden, The Netherlands.

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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
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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