Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells

Nucleic Acids Res. 2002 Feb 1;30(3):782-93. doi: 10.1093/nar/30.3.782.

Abstract

Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by UV sensitivity, developmental abnormalities and premature aging. The cellular and molecular phenotypes of CS include increased sensitivity to oxidative and UV-induced DNA lesions. The CSB protein is thought to play a pivotal role in transcription-coupled repair and CS-B cells are defective in the repair of the transcribed strand of active genes, both after exposure to UV and in the presence of oxidative DNA lesions. A previous study has indicated that a conserved helicase ATPase motif II residue is essential for the function of the CSB protein in responding to UV-induced DNA damage in a hamster cell line. Due to the limitations in studying a complex human disorder in another species, this study introduced the site-directed mutation of the ATPase motif II in the human CSB gene in an isogenic human cell line. The CSB mutant allele was tested for genetic complementation of UV-sensitive phenotypes in the human CS-B cell line CS1AN.S3.G2. In addition, the incision of an 8-oxoguanine lesion by extracts of the CS-B cell lines stably transfected with the wild-type or ATPase mutant CSB gene has been investigated. The ATPase motif II point mutation (E646Q) abolished the function of the CSB protein to complement the UV-sensitive phenotypes of survival, RNA synthesis recovery and apoptosis. Interestingly, whole-cell extract prepared from these mutant cells retained wild-type incision activity on an oligonucleotide containing a single 8-oxoguanine lesion, whereas the absence of the CSB gene altogether resulted in reduced incision activity relative to wild-type. These results suggest damage-specific functional requirements for CSB in the repair of UV-induced and oxidative lesions in human cells. The transfection of the mutant or wild-type CSB gene into the CS1AN.S3.G2 cells did not alter the expression of the subset of genes examined by cDNA array analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / chemistry*
  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism
  • Amino Acid Motifs
  • Amino Acid Sequence
  • Apoptosis / drug effects
  • Apoptosis / radiation effects
  • Cell Extracts
  • Cell Line
  • Cell Survival / drug effects
  • Cell Survival / radiation effects
  • Cockayne Syndrome / enzymology
  • Cockayne Syndrome / genetics*
  • Cytosine / analogs & derivatives
  • Cytosine / metabolism
  • DNA Damage / genetics*
  • DNA Damage / radiation effects*
  • DNA Helicases / chemistry*
  • DNA Helicases / genetics
  • DNA Helicases / metabolism*
  • DNA Repair / genetics*
  • DNA Repair Enzymes
  • Fibroblasts
  • Gene Expression Profiling
  • Genetic Complementation Test
  • Guanine / analogs & derivatives*
  • Guanine / metabolism*
  • Humans
  • Hydrogen Peroxide / pharmacology
  • Mutation / genetics
  • Oligonucleotide Array Sequence Analysis
  • Poly-ADP-Ribose Binding Proteins
  • Protein Structure, Tertiary
  • RNA / biosynthesis
  • Radiation Tolerance / genetics
  • Thymine / analogs & derivatives*
  • Thymine / metabolism
  • Ultraviolet Rays

Substances

  • Cell Extracts
  • Poly-ADP-Ribose Binding Proteins
  • thymine glycol
  • 8-hydroxyguanine
  • Guanine
  • RNA
  • Cytosine
  • Hydrogen Peroxide
  • Adenosine Triphosphatases
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes
  • Thymine