Nucleotide excision repair and human syndromes

de Boer, Jan; Hoeijmakers, Jan H.J.

doi:10.1093/carcin/21.3.453

Cited by 674DNA Repair MechanismsGenetic and rare skin diseases.Genetic factors in colorectal cancer

Nucleotide excision repair and human syndromes

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de Boer, Jan, Hoeijmakers, Jan H.J.·2000·Carcinogenesis

DOI 10.1093/carcin/21.3.453

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Abstract

DNA damage is implicated in cancer and aging, and several DNA repair mechanisms exist that safeguard the genome from these deleterious consequences. Nucleotide excision repair (NER) removes a wide diversity of lesions, the main of which include UV-induced lesions, bulky chemical adducts and some forms of oxidative damage. The NER process involves the action of at least 30 proteins in a 'cut-and-paste'-like mechanism. The consequences of a defect in one of the NER proteins are apparent from three rare recessive syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and the photosensitive form of the brittle hair disorder trichothiodystrophy (TTD). Sun-sensitive skin is associated with skin cancer predisposition in the case of XP, but remarkably not in CS and TTD. Moreover, the spectrum of clinical symptoms differs considerably between the three syndromes. CS and TTD patients exhibit a spectrum of neurodevelopmental abnormalities and, in addition, TTD is associated with ichthyosis and brittle hair. These typical CS and TTD abnormalities are difficult to comprehend as a consequence of defective NER. This review briefly describes the biochemistry of the NER process, summarizes the clinical features of the NER disorders and speculates on the molecular basis underlying these pleitropic syndromes.

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NER removes a wide variety of damage such as bulky DNA adducts, ROS-damaged bases, and damage resulting from crosslinking agents.
“Furthermore, NER removes a wide variety of damage such as bulky DNA adducts, ROS-damaged bases, and damage resulting from crosslinking agents.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [88]
Prokaryotic NER is far poorer in terms of protein complexes involved in repair.
“Prokaryotic NER is far poorer in terms of protein complexes involved in repair.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [88]
The common feature of the aforementioned damage is strong perturbation of the DNA helix.
“The common feature of the aforementioned damage is certainly the strong perturbation of the DNA helix [88,89].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [88]
NER is the main UV-damage removal pathway both in prokaryotes and eukaryotes.
“Nucleotide excision repair (NER) is the main UV-damage removal pathway both in prokaryotes and eukaryotes.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [88]
Humans possess only NER mechanism for repair of dipyrimidine DNA lesions.
“Humans possess only NER mechanism for the repair of dipyrimidine DNA lesions.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [88]

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UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosum
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Hoeijmakers, J. H. J. (2001) · Biochemical Society Transactions · doi:10.1042/bst029a091b · Cited by 15 · see citing works
Self-citation
From a DNA helicase to brittle hair
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Self-citation
XPC (xeroderma pigmentosum, complementation group C)
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Flagged first, then by citations

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Oxidative DNA damage: mechanisms, mutation, and disease
Cooke, M. S., Evans, M. D., Dizdaroglu, M., & Lunec, J. (2003) · The FASEB Journal · doi:10.1096/fj.02-0752rev · Cited by 3,245 · see citing works
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Self-citation
Flexible nets: The roles of intrinsic disorder in protein interaction networks
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DNA repair mechanisms in dividing and non-dividing cells
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Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
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ATM deficiency and oxidative stress: a new dimension of defective response to DNA damage
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XPD Mutations Prevent TFIIH-Dependent Transactivation by Nuclear Receptors and Phosphorylation of RARα
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Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies
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“The common feature of the aforementioned damage is certainly the strong perturbation of the DNA helix [88,89].”
Background
XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase
Fuss, J. O., & Tainer, J. A. (2011) · DNA Repair · doi:10.1016/j.dnarep.2011.04.028 · Cited by 170 · see citing works
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Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions
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Self-citation
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
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DNA Polymerase η, the Product of the Xeroderma Pigmentosum Variant Gene and a Target of p53, Modulates the DNA Damage Checkpoint and p53 Activation
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UV-induced photolesions elicit ATR-kinase-dependent signaling in non-cycling cells through nucleotide excision repair-dependent and -independent pathways
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Differential repair of UVB-induced cyclobutane pyrimidine dimers in cultured human skin cells and whole human skin
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“carcinoma, head and neck cancer, colorectal cancer, and leukemia [11, 12, 67-69].”
Background
Differential Role of Basal Keratinocytes in UV-Induced Immunosuppression and Skin Cancer
Jans, J., Garinis, G. A., Schul, W., van Oudenaren, A., Moorhouse, M., Smid, M., Sert, Y.-G., van der Velde, A., Rijksen, Y., de Gruijl, F. R., et al. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.00807-06 · Cited by 56 · see citing works
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Progeroid Syndromes and UV-Induced Oxidative DNA Damage
Kamenisch, Y., & Berneburg, M. (2009) · Journal of Investigative Dermatology Symposium Proceedings · doi:10.1038/jidsymp.2009.6 · Cited by 50 · see citing works
Transcriptional and Posttranslational Regulation of Nucleotide Excision Repair: The Guardian of the Genome against Ultraviolet Radiation
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ATR- and ATM-Mediated DNA Damage Response Is Dependent on Excision Repair Assembly during G1 but Not in S Phase of Cell Cycle
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Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts
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Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
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A unified model for the molecular basis ofXeroderma pigmentosum-Cockayne Syndrome
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Unrepaired Cyclobutane Pyrimidine Dimers Do Not Prevent Proliferation of UV‐B‐irradiated Cultured Human Fibroblasts¶
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Authors: de Boer, J., & Hoeijmakers, J. H. J.
Affiliations: Erasmus University Rotterdam (NL)
ORCID: Hoeijmakers, Jan H.J.
Venue: Carcinogenesis
Publisher: Oxford University Press (OUP)
Published: 2000-03
Volume: 21
Issue: 3
Pages: 453-460
ISSN: 0143-3334 (ISSN-L)
1460-2180
DOI: 10.1093/carcin/21.3.453
OpenAlex: W2101472561
Cited by: 674
References: 87
Citations by year: 2025: 8 · 2024: 7 · 2023: 9 · 2022: 12 · 2021: 12 · 2020: 18 · 2019: 12 · 2018: 22 · 2017: 17 · 2016: 21 · 2015: 21 · 2014: 32 · 2013: 37 · 2012: 21
FWCI: 3.42
Type: journal article
Language: en
Open access: green
pure.eur.nl
Licence: other-oa
Locations: Carcinogenesis (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Funders: Nederlandse Organisatie voor Wetenschappelijk Onderzoek
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: nucleotide excision repair, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, DNA repair disorders, UV-induced DNA damage, oxidative DNA damage, neurodevelopmental abnormalities, ichthyosis, skin cancer predisposition, pleiotropy
MeSH terms: Cockayne Syndrome, DNA Damage, DNA Repair, Humans, Syndrome, Xeroderma Pigmentosum

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Nucleotide excision repair and human syndromes

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