title: 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.
authors: Laboratory of Genetic Instability and Cancer, CNRS, France.
authors: V
authors: V
authors: Bergoglio
authors: T
authors: T
authors: Magnaldo
mesh_terms: D000818:Animals; D003057:Cockayne Syndrome / Q000235:genetics; D004247:DNA / Q000235:genetics; D004249:DNA Damage; D004260:DNA Repair; D019281:Dimerization; D005816:Genetic Complementation Test; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D016678:Genome; D006801:Humans; D008957:Models, Genetic; D054463:Trichothiodystrophy Syndromes / Q000235:genetics; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000235:genetics
chemical_list: D004247:DNA