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.
Copyright © 2011 Elsevier B.V. All rights reserved.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Animals
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DNA / genetics
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DNA / metabolism
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DNA / radiation effects
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DNA Damage
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DNA Repair*
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DNA Repair-Deficiency Disorders / genetics*
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DNA Repair-Deficiency Disorders / metabolism
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DNA Repair-Deficiency Disorders / physiopathology
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / metabolism*
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Endonucleases / genetics
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Endonucleases / metabolism*
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Gene Expression Regulation
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Genotype
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Humans
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Mice
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Mice, Knockout
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Mutation
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Neurodegenerative Diseases / genetics
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Neurodegenerative Diseases / metabolism
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Neurodegenerative Diseases / physiopathology
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Rare Diseases / genetics
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Rare Diseases / metabolism
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Rare Diseases / physiopathology
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Telomere / genetics
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Telomere / metabolism
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Ultraviolet Rays
Substances
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DNA-Binding Proteins
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xeroderma pigmentosum group F protein
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DNA
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ERCC1 protein, human
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Endonucleases