Nucleotide excision repair and related human diseases

Genome Dynamics
Valérie Bergoglio, Thierry Magnaldo

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.

Citations

Feb 3, 2011·Journal of Biomedical Science·Nanna M JensenThomas G Jensen
Jul 28, 2016·Genes·Kathrin Jäger, Michael Walter
Nov 6, 2009·The Journal of Pathology·Sarah A MartinAlan Ashworth
Feb 23, 2010·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Natalia V KirienkoDavid S Fay
Feb 27, 2010·Journal of Pediatric Hematology/oncology·John A D'Orazio
Oct 7, 2020·International Journal of Molecular Sciences·Mateusz KciukRenata Kontek
Oct 20, 2009·European Journal of Pharmacology·Zbigniew DarzynkiewiczDonald Wlodkowic

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