An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum

Mutat Res. 1994 Mar;314(2):167-75. doi: 10.1016/0921-8777(94)90080-9.

Abstract

We have isolated a human excision repair gene ERCC5 which complements the defect of the mouse UV-sensitive mutant XL216 (rodent complementation group 5). Here we report cDNA cloning of human and mouse ERCC5 genes using an exon containing an ERCC5 fragment as a probe. The ERCC5 cDNA encodes a predicted 133-kDa nuclear protein that shares some homology with the product of the yeast DNA repair gene RAD2. Transfection with mouse ERCC5 cDNA restored normal levels of UV resistance to XL216 cells. Microinjection of ERCC5 cDNA specifically restored the defect of xeroderma pigmentosum group G cells (XP-G) as measured by unscheduled DNA synthesis, and XP-G cells stably transformed with ERCC5 cDNA showed nearly normal UV resistance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • DNA Repair
  • DNA, Complementary
  • DNA-Binding Proteins / genetics*
  • Endodeoxyribonucleases*
  • Endonucleases
  • Fungal Proteins / genetics*
  • Genetic Complementation Test
  • Humans
  • Mice
  • Molecular Sequence Data
  • Nuclear Proteins
  • Saccharomyces cerevisiae / metabolism*
  • Saccharomyces cerevisiae Proteins*
  • Sequence Homology, Amino Acid
  • Transcription Factors
  • Xeroderma Pigmentosum / genetics*

Substances

  • DNA excision repair protein ERCC-5
  • DNA, Complementary
  • DNA-Binding Proteins
  • Fungal Proteins
  • Nuclear Proteins
  • Saccharomyces cerevisiae Proteins
  • Transcription Factors
  • RAD2 protein, S cerevisiae
  • Endodeoxyribonucleases
  • Endonucleases

Associated data

  • GENBANK/D16305