Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither?

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80 Scopus citations


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 languageEnglish (US)
Pages (from-to)731-738
Number of pages8
Issue number9
StatePublished - Sep 1996

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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