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.
Original language | English (US) |
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Pages (from-to) | 731-738 |
Number of pages | 8 |
Journal | BioEssays |
Volume | 18 |
Issue number | 9 |
DOIs | |
State | Published - Sep 1996 |
ASJC Scopus subject areas
- General Biochemistry, Genetics and Molecular Biology