Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease
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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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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).”
From Senolytic Drugs: Reducing Senescent Cell Viability to Extend Health Span (2021) · cites this paper as [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
- PMC
- PMC3139823
- 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
- green
- www.ncbi.nlm.nih.gov
- 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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