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DNA Repair (Amst). 2011 Jul 15;10(7):781-91. doi: 10.1016/j.dnarep.2011.04.026. Epub 2011 May 25.

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

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  • 1Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15219, USA.


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.

Copyright © 2011 Elsevier B.V. All rights reserved.

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