Nucleotide excision repair and related human diseases
Abstract
Nucleotide excision repair (NER) of DNA-lesions is the most versatile DNA repair mechanism involved in genome maintenance, cell and organismal preservation. Deciphering the stepwise mechanism of NER has mostly relied on cells from rare patients presenting photosensitive, recessively inherited genetic disorders such as xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne (CS) syndromes. Cells from these patients share various extents of impaired capacity of repairing UV-induced DNA lesions (cyclobutane pyrimidine dimers, 6-4 pyrimidine-pyrimidone photo products) located either in transcribed DNA strands or in inactive DNA. We review here the essentials of NER actors and how impairment of their activity may lead to distinct and characteristic human disorders whose presentation may be limited to developmental trait (TTD; CS), or cumulate with cancer susceptibility toward genotoxic aggressions, most notably short wavelength ultraviolets.
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TTDA and TTDN1 genes may harbor mutations, but they do not contribute to UV sensitivity.
“TTDA (general transcription factor IIH subunit 5) and TTDN1 (trichothiodystrophy non-photosensitive 1) genes may also harbor a mutation; however, they do not contribute to UV sensitivity [107,160,161,162].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [162]
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- Authors
- Bergoglio, V., & Magnaldo, T.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Venue
- Genome Dynamics
- Publisher
- KARGER
- Published
- 2006
- Volume
- 1
- Pages
- 35-52
- OpenAlex
- W1526737460
- Cited by
- 25
- References
- 72
- Citations by year
- 2023: 1 · 2021: 1 · 2020: 2 · 2018: 1 · 2016: 3 · 2013: 3 · 2012: 2
- FWCI
- 4.65
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- KARGER eBooks (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Fondation de l'Avenir pour la Recherche Médicale Appliquée
- Centre National de la Recherche Scientifique
- 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, xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, UV-induced DNA damage, cyclobutane pyrimidine dimers, DNA repair proteins, photosensitivity, cancer susceptibility, genome maintenance
- MeSH terms
- Animals, Cockayne Syndrome, DNA, DNA Damage, DNA Repair, Genetic Complementation Test, Humans, Models, Genetic, Ultraviolet Rays, Xeroderma Pigmentosum, Genome, Dimerization, Genetic Diseases, Inborn, Trichothiodystrophy Syndromes
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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