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 language||English (US)|
|Number of pages||11|
|State||Published - Jul 15 2011|
Bibliographical noteFunding 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 Lehmann and colleagues for contributing unpublished information and to the reviewers for critical additions to this manuscript.
- Endogenous damage
- Genetic diseases
- Knockout mice