A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

Cell. 1990 Aug 24;62(4):777-91. doi: 10.1016/0092-8674(90)90122-u.


The human gene ERCC-3 specifically corrects the defect in an early step of the DNA excision repair pathway of UV-sensitive rodent mutants of complementation group 3. The predicted 782 amino acid ERCC-3 protein harbors putative nucleotide, chromatin, and helix-turn-helix DNA binding domains and seven consecutive motifs conserved between two superfamilies of DNA and RNA helicases, strongly suggesting that it is a DNA repair helicase. ERCC-3-deficient rodent mutants phenotypically resemble the human repair syndrome xeroderma pigmentosum (XP). ERCC-3 specifically corrects the excision defect in one of the eight XP complementation groups, XP-B. The sole XP-B patient presents an exceptional conjunction of two rare repair disorders: XP and Cockayne's syndrome. This patient's DNA contains a C----A transversion in the splice acceptor sequence of the last intron of the only ERCC-3 allele that is detectably expressed, leading to a 4 bp insertion in the mRNA and an inactivating frameshift in the C-terminus of the protein. Because XP is associated with predisposition to skin cancer, ERCC-3 can be considered a tumor-preventing gene.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Cloning, Molecular
  • Cockayne Syndrome / enzymology*
  • Cockayne Syndrome / genetics
  • DNA / genetics
  • DNA Helicases / genetics*
  • DNA Repair*
  • Dwarfism / enzymology*
  • Genes
  • Humans
  • Microinjections
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA Splicing
  • Restriction Mapping
  • Xeroderma Pigmentosum / enzymology*
  • Xeroderma Pigmentosum / genetics


  • DNA
  • DNA Helicases

Associated data

  • GENBANK/M31899