Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient

Hum Mol Genet. 1994 Jun;3(6):963-7. doi: 10.1093/hmg/3.6.963.

Abstract

The human XPG (ERCC5) gene encodes a large acidic protein that corrects the ultraviolet light sensitivity of cells from both xeroderma pigmentosum complementation group G and rodent ERCC group 5. Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. Three of these changes are polymorphic variants whereas the remaining two, one in each XPG allele, inactivate complementation in vivo. These single point mutations provide formal proof that defects in XPG give rise to the group G form of xeroderma pigmentosum, and their locations suggest ways in which this may occur.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Cell Line
  • Cell Survival / drug effects
  • DNA Primers
  • DNA Repair / genetics*
  • DNA-Binding Proteins / genetics*
  • Endonucleases / genetics
  • Female
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Nuclear Proteins
  • Point Mutation*
  • Polymorphism, Genetic*
  • Transcription Factors
  • Transfection
  • Ultraviolet Rays
  • Xeroderma Pigmentosum / genetics*

Substances

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

Associated data

  • GENBANK/X78329