Cited by 25DNA Repair MechanismsGenetic factors in colorectal cancerNuclear Structure and Function

Nucleotide excision repair and related human diseases

Bergoglio, V., Magnaldo, T.·2006·Genome Dynamics

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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Crossref · 10.1159/000092499

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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].”

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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

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