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Nucleotide excision repair (NER) is a major DNA repair pathway that ensures that the genome remains functionally intact and is faithfully transmitted to progeny. However, defects in NER lead, in addition to cancer and aging, to developmental abnormalities whose clinical heterogeneity and varying severity cannot be fully explained by the DNA repair deficiencies. Recent work has revealed that proteins in NER play distinct roles, including some that go well beyond DNA repair. NER factors are components of protein complexes known to be involved in nucleosome remodeling, histone ubiquitination, and transcriptional activation of genes involved in nuclear receptor signaling, stem cell reprogramming, and postnatal mammalian growth. Together, these findings add new pieces to the puzzle for understanding NER and the relevance of NER defects in development and disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

Citation

Irene Kamileri, Ismene Karakasilioti, George A Garinis. Nucleotide excision repair: new tricks with old bricks. Trends in genetics : TIG. 2012 Nov;28(11):566-73

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PMID: 22824526

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