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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

"V体育平台登录" Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

"VSports在线直播" Siobhán Q Gregg et al. DNA Repair (Amst). .

"V体育2025版" Abstract

ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks VSports手机版. 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

"V体育2025版" References

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    1. Kuraoka I, Kobertz WR, Ariza RR, Biggerstaff M, Essigmann JM, Wood RD. Repair of an interstrand DNA cross-link initiated by ERCC1-XPF repair/recombination nuclease. J Biol Chem. 2000;275:26632–26636. - "VSports注册入口" PubMed
    1. Ahmad A, Robinson AR, Duensing A, van Drunen E, Beverloo HB, Weisberg DB, Hasty P, Hoeijmakers JH, Niedernhofer LJ. ERCC1-XPF endonuclease facilitates DNA double-strand break repair. Mol Cell Biol. 2008;28:5082–5092. - "VSports注册入口" PMC - PubMed
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    1. Schlake C, Ostermann K, Schmidt H, Gutz H. Analysis of DNA repair pathways of Schizosaccharomyces pombe by means of swi-rad double mutants. Mutat Res. 1993;294:59–67. - "V体育平台登录" PubMed

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