Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein

Nucleic Acids Res. 2000 Aug 15;28(16):3151-9. doi: 10.1093/nar/28.16.3151.

Abstract

Cockayne syndrome (CS) is a human genetic disorder characterized by post-natal growth failure, neurological abnormalities and premature aging. CS cells exhibit high sensitivity to UV light, delayed RNA synthesis recovery after UV irradiation and defective transcription-coupled repair (TCR). Two genetic complementation groups of CS have been identified, designated CS-A and CS-B. The CSB gene encodes a helicase domain and a highly acidic region N-terminal to the helicase domain. This study describes the genetic characterization of a CSB mutant allele encoding a full deletion of the acidic region. We have tested its ability to complement the sensitivity of UV61, the hamster homolog of human CS-B cells, to UV and the genotoxic agent N-acetoxy-2-acetylaminofluorene (NA-AAF). Deleting 39 consecutive amino acids, of which approximately 60% are negatively charged, did not impact on the ability of the protein to complement the sensitive phenotype of UV61 cells to either UV or NA-AAF. Our data indicate that the highly acidic region of CSB is not essential for the TCR and general genome repair pathways of UV- and NA-AAF-induced DNA lesions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetoxyacetylaminofluorene / pharmacology
  • Amino Acid Sequence
  • Animals
  • Apoptosis* / drug effects
  • Apoptosis* / radiation effects
  • Cell Line
  • Cell Survival / drug effects
  • Cell Survival / radiation effects
  • Cockayne Syndrome / genetics*
  • Cricetinae
  • DNA Helicases / genetics*
  • DNA Helicases / metabolism
  • DNA Repair Enzymes
  • DNA Repair* / drug effects
  • DNA Repair* / radiation effects
  • Genetic Complementation Test
  • Humans
  • Molecular Sequence Data
  • Poly-ADP-Ribose Binding Proteins
  • Proliferating Cell Nuclear Antigen / metabolism
  • Recombinant Proteins / metabolism
  • Sequence Alignment
  • Sequence Deletion*
  • Sequence Homology, Amino Acid
  • Transfection
  • Ultraviolet Rays

Substances

  • Poly-ADP-Ribose Binding Proteins
  • Proliferating Cell Nuclear Antigen
  • Recombinant Proteins
  • Acetoxyacetylaminofluorene
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes