Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription

J Invest Dermatol. 2013 Jul;133(7):1841-9. doi: 10.1038/jid.2013.54. Epub 2013 Jan 31.

Abstract

Only 16 XPG-defective patients with 20 different mutations have been described. The current hypothesis is that missense mutations impair repair (xeroderma pigmentosum (XP) symptoms), whereas truncating mutations impair both repair and transcription (XP and Cockayne syndrome (CS) symptoms). We identified three cell lines of XPG-defective patients (XP40GO, XP72MA, and XP165MA). Patients' fibroblasts showed a reduced post-UVC cell survival. The reduced repair capability, assessed by host cell reactivation, could be complemented by XPG cDNA. XPG mRNA expression of XP165MA, XP72MA, and XP40GO was 83%, 97%, and 82.5%, respectively, compared with normal fibroblasts. XP165MA was homozygous for a p.G805R mutation; XP72MA and XP40GO were both compound heterozygous (p.W814S and p.E727X, and p.L778P and p.Q150X, respectively). Allele-specific complementation analysis of these five mutations revealed that p.L778P and p.W814S retained considerable residual repair activity. In line with the severe XP/CS phenotypes of XP72MA and XP165MA, even the missense mutations failed to interact with the transcription factor IIH subunits XPD and to some extent cdk7 in coimmunoprecipitation assays. Immunofluorescence techniques revealed that the mutations destabilized early recruitment of XP proteins to localized photodamage and delayed their redistribution in vivo. Thus, we identified three XPG missense mutations in the I-region of XPG that impaired repair and transcription and resulted in severe XP/CS.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Cell Line
  • Cockayne Syndrome / genetics*
  • Cockayne Syndrome / pathology
  • DNA Repair / genetics*
  • DNA Repair / radiation effects
  • DNA-Binding Proteins / analysis
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Endonucleases / analysis
  • Endonucleases / genetics*
  • Endonucleases / metabolism
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Fibroblasts / radiation effects
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Nuclear Proteins / analysis
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Phenotype
  • Transcription Factors / analysis
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Transcription, Genetic / genetics*
  • Transcription, Genetic / radiation effects
  • Ultraviolet Rays
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / pathology

Substances

  • DNA excision repair protein ERCC-5
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors
  • Endonucleases