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Review
. 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

Siobhán Q Gregg  1 , Andria Rasile Robinson, Laura J Niedernhofer
Affiliations
Review

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

Siobhán Q Gregg et al. DNA Repair (Amst). .

Abstract

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.

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Figures

Figure 1
Figure 1
(A) Representative images of Ercc1−/− (left; 3 wks of age) and Ercc1−/Δ (right; 18 wks of age) mice. (B) Table listing the symptoms of aging observed in Ercc1−/− mice, Ercc1−/Δ mice, and patient XP51RO who had a progeroid syndrome (or disease of accelerated aging) due to a homozygous mutation in XPF. Symptoms are compared to normal human aging. (+) indicates presence and (−) indicates absence of the symptom. References are listed in the righthand column. Also indicated are whether or not the same symptoms are associated with old age in humans and (+) or (−) indicates presence or absence in the Ercc1−/− mice, Ercc1−/Δ mice, or progeroid patient XP51RO.
See this image and copyright information in PMC

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