The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA

Journal Article · Fri Jun 01 04:00:00 EDT 1990 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.87.12.4707· OSTI ID:6704839

Venema, J; Mullenders, L H; Natarajan, A T; van Zeeland, A A; Mayne, L V ^[1]

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1. State Univ. of Leiden (Netherlands)

Cells from patients with Cockayne syndrome (CS) are hypersensitive to UV-irradiation but have an apparently normal ability to remove pyrimidine dimers from the genome overall. We have measured the repair of pyrimidine dimers in defined DNA sequences in three normal and two CS cell strains. When compared to a nontranscribed locus, transcriptionally active genes were preferentially repaired in all three normal cell strains. There was no significant variation in levels of repair between various normal individuals or between two constitutively expressed genes, indicating that preferential repair may be a consistent feature of constitutively expressed genes in human cells. Neither CS strain, from independent complementation groups, was able to repair transcriptionally active DNA with a similar rate and to the same extent as normal cells, indicating that the genetic defect in CS lies in the pathway for repair of transcriptionally active DNA. These results have implications for understanding the pleiotropic clinical effects associated with disorders having defects in the repair of DNA damage. In particular, neurodegeneration appears to be associated with the loss of preferential repair of active genes and is not simply correlated with reduced levels of overall repair.

• OSTI ID: 6704839
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 87:12; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

560120* -- Radiation Effects on Biochemicals
Cells
& Tissue Culture
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
ANIMAL CELLS
BIOLOGICAL EFFECTS
BIOLOGICAL RADIATION EFFECTS
BIOLOGICAL RECOVERY
BIOLOGICAL REPAIR
BODY
CONGENITAL DISEASES
CONNECTIVE TISSUE CELLS
DISEASES
DNA
DNA REPAIR
ELECTROMAGNETIC RADIATION
FIBROBLASTS
GENES
GENETIC EFFECTS
GENETIC RADIATION EFFECTS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PYRIMIDINE DIMERS
RADIATION EFFECTS
RADIATIONS
RECOVERY
REPAIR
SKIN
SOMATIC CELLS
TRANSCRIPTION
ULTRAVIOLET RADIATION