Cited by 175DNA Repair MechanismsGenetic factors in colorectal cancerNuclear Structure and Function

Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease

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Gregg, Siobhán Q., Robinson, Andria Rasile, Niedernhofer, Laura J.·2011·DNA Repair

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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Crossref · 10.1016/j.dnarep.2011.04.026

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  • Ercc1−/Δ mice have reduced expression of the ERCC1-XPF endonuclease, which is important for multiple DNA repair types.

    “The Ercc1−/Δ mouse has reduced expression of the ERCC1-XPF endonuclease, which is important for multiple types of DNA repair (78).”
  • Ercc1−/Δ mice model human XFE progeria, have features resembling accelerated aging with a lifespan of 6 months, and spontaneously develop progressive age-related chronic degenerative diseases.

    “These mice, which model human XFE progeria, have features resembling accelerated aging with a lifespan of 6 months (Dolle et al., 2011) and spontaneously develop progressive age-related chronic degenerative diseases (Gregg et al., 2011).”

    From The Achilles' heel of senescent cells: from transcriptome to senolytic drugs (2015) · cites this paper as Gregg et al., 2011

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Authors
Gregg, S. Q., Robinson, A. R., & Niedernhofer, L. J.
Affiliations
University of Pittsburgh (US)
Corresponding author
Niedernhofer, Laura J.
Venue
DNA Repair
Publisher
Elsevier BV
Published
2011-07
Volume
10
Issue
7
Pages
781-791
ISSN
  • 1568-7856 (ISSN-L)
  • 1568-7864
OpenAlex
W2044346962
Cited by
175
References
133
Citations by year
2026: 4 · 2025: 5 · 2024: 13 · 2023: 13 · 2022: 3 · 2021: 11 · 2020: 19 · 2019: 13 · 2018: 13 · 2017: 8 · 2016: 15 · 2015: 9 · 2014: 11 · 2013: 14 · 2012: 21
FWCI
1.42
Type
journal article
Language
en
Open access
Locations
  • DNA repair (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institute on Aging (P30AG024827)
  • National Institute of General Medical Sciences (R01GM080454)
  • National Institute of Diabetes and Digestive and Kidney Diseases (P30DK079307)
  • National Institute of Environmental Health Sciences (ES 016114, ES016114-03S1, R01ES016114)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Keywords
nucleotide excision repair, interstrand crosslink repair, DNA double-strand break repair, xeroderma pigmentosum, cerebro-oculo-facio-skeletal syndrome, DNA damage, cancer risk, premature aging, mouse model, developmental abnormalities
MeSH terms
Animals, DNA, DNA Damage, DNA Repair, DNA-Binding Proteins, Endonucleases, Gene Expression Regulation, Genotype, Humans, Mutation, Ultraviolet Rays, Telomere, Mice, Knockout, Neurodegenerative Diseases, Rare Diseases, DNA Repair-Deficiency Disorders, Mice

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