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

Research output: Contribution to journalArticle

74 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)731-738
Number of pages8
JournalBioEssays
Volume18
Issue number9
StatePublished - Sep 1996

Fingerprint

Cockayne Syndrome
Transcription
DNA repair
DNA Repair
Repair
transcription (genetics)
Defects
DNA
cells
Phenotype
phenotype
Ultraviolet radiation
postnatal development
Genes
DNA damage
DNA Damage
Embryonic Development
ultraviolet radiation
embryogenesis
Radiation

ASJC Scopus subject areas

  • Neuroscience (miscellaneous)
  • Biochemistry
  • Cell Biology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Developmental Biology
  • Agricultural and Biological Sciences (miscellaneous)
  • Plant Science

Cite this

Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither? / Friedberg, Errol C.

In: BioEssays, Vol. 18, No. 9, 09.1996, p. 731-738.

Research output: Contribution to journalArticle

@article{9f8d1bdcc0044a3980734131283d35bc,
title = "Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither?",
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.",
author = "Friedberg, {Errol C.}",
year = "1996",
month = "9",
language = "English (US)",
volume = "18",
pages = "731--738",
journal = "BioEssays",
issn = "0265-9247",
publisher = "John Wiley and Sons Inc.",
number = "9",

}

TY - JOUR

T1 - Cockayne syndrome - A primary defect in DNA repair, transcription, both or neither?

AU - Friedberg, Errol C.

PY - 1996/9

Y1 - 1996/9

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0029850732&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029850732&partnerID=8YFLogxK

M3 - Article

VL - 18

SP - 731

EP - 738

JO - BioEssays

JF - BioEssays

SN - 0265-9247

IS - 9

ER -