Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

Siobhán Q. Gregg, Andria Rasile Robinson, Laura J. Niedernhofer

Research output: Contribution to journalReview articlepeer-review

117 Scopus citations


ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review provides a comprehensive overview of the health impact of ERCC1-XPF deficiency, based on these rare diseases and mouse models of them. This offers an understanding of the tremendous health impact of DNA damage derived from environmental and endogenous sources.

Original languageEnglish (US)
Pages (from-to)781-791
Number of pages11
JournalDNA Repair
Issue number7
StatePublished - Jul 15 2011
Externally publishedYes

Bibliographical note

Funding Information:
The authors are supported by the National Institutes of Health grants ES016114 and -03S1 . L.J.N. is also supported by the University of Pittsburgh Claude D. Pepper Center ( P30AG024827 ). The authors are extremely grateful to Dr. Lehmann and colleagues for contributing unpublished information and to the reviewers for critical additions to this manuscript.


  • Cancer
  • Endogenous damage
  • Genetic diseases
  • Knockout mice
  • Progeria


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