Cockayne syndrome – a primary defect in DNA repair, transcription, both or neither?
- 1 September 1996
- Vol. 18 (9), 731-738
- https://doi.org/10.1002/bies.950180908
Abstract
Cockayne syndrome is a rare autosomal recessive disease characterized by a complex clinical phenotype. Most Cockayne syndrome cells are hypersensitive to killing by ultraviolet radiation. This observation has prompted a wealth of studies on the DNA repair capacity of Cockayne syndrome cells in vitro. Many studies support the notion that such cells are defective in a DNA repair mode(s) that is transcription‐dependent. However, it remains to be established that this is a primary molecular defect in Cockayne syndrome cells and that it explains the complex clinical phenotype associated with the disease. An alternative hypothesis is that Cockayne syndrome cells have a defect in transcription affecting the expression of certain genes, which is compatible with embryogenesis but not with normal post‐natal development. Defective transcription may impair the normal processing of DNA damage during transcription‐dependent repair. ‘“Curiouser and curiouser” cried Alice.’ (Lewis Carroll, Alice's Adventures in Wonderland).Keywords
This publication has 46 references indexed in Scilit:
- Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group AMutation Research/DNA Repair, 1996
- Repair of some active genes in Cockayne syndrome cells is at the genome overall rateMutation Research/DNA Repair, 1995
- Xeroderma Pigmentosum and Related Disorders: Examining the Linkage Between Defective DNA Repair and CancerJournal of Investigative Dermatology, 1994
- The ancient regulatory-protein family of WD-repeat proteinsNature, 1994
- Transcriptional Activation: Switched-on chromatinCurrent Biology, 1994
- Repair in ribosomal RNA genes is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cellsMutation Research Letters, 1994
- Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of slun tumors despite severe deficiency of DNA excision repairJournal of the American Academy of Dermatology, 1993
- Engagement with transcriptionNature, 1993
- Cockayne's syndrome fibroblasts are characterized by hypersensitivity to deoxyguanosine and abnormal DNA precursor pool metabolism in response to deoxyguanosine or ultraviolet lightSomatic Cell and Molecular Genetics, 1992
- Three complementation groups in Cockayne syndromeMutation Research, 1982