XPD/ERCC2 mutations interfere in cellular responses to oxidative stress

Mutagenesis. 2019 Dec 19;34(4):341-354. doi: 10.1093/mutage/gez020.

Abstract

Nucleotide excision repair (NER) is a conserved, flexible mechanism responsible for the removal of bulky, helix-distorting DNA lesions, like ultraviolet damage or cisplatin adducts, but its role in the repair of lesions generated by oxidative stress is still not clear. The helicase XPD/ERCC2, one of the two helicases of the transcription complex IIH, together with XPB, participates both in NER and in RNA pol II-driven transcription. In this work, we investigated the responses of distinct XPD-mutated cell lines to the oxidative stress generated by photoactivated methylene blue (MB) and KBrO3 treatments. The studied cells are derived from patients with XPD mutations but expressing different clinical phenotypes, including xeroderma pigmentosum (XP), XP and Cockayne syndrome (XP-D/CS) and trichothiodystrophy (TTD). We show by different approaches that all XPD-mutated cell lines tested were sensitive to oxidative stress, with those from TTD patients being the most sensitive. Host cell reactivation (HCR) assays showed that XP-D/CS and TTD cells have severely impaired repair capacity of oxidised lesions in plasmid DNA, and alkaline comet assays demonstrated the induction of significantly higher amounts of DNA strand breaks after treatment with photoactivated MB in these cells compared to wild-type cells. All XPD-mutated cells presented strong S/G2 arrest and persistent γ-H2AX staining after photoactivated MB treatment. Taken together, these results indicate that XPD participates in the repair of lesions induced by the redox process, and that XPD mutations lead to differences in the response to oxidatively induced damage.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers
  • Cell Cycle Checkpoints / drug effects
  • Cell Cycle Checkpoints / genetics
  • Cell Line
  • Cell Survival / drug effects
  • Cell Survival / genetics
  • Comet Assay
  • DNA Damage
  • DNA Repair
  • Dose-Response Relationship, Radiation
  • Fibroblasts / metabolism
  • Flow Cytometry
  • Humans
  • Mutation* / drug effects
  • Mutation* / radiation effects
  • Oxidative Stress* / drug effects
  • Oxidative Stress* / radiation effects
  • Ultraviolet Rays
  • Xeroderma Pigmentosum Group D Protein / genetics*

Substances

  • Biomarkers
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human