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UVSSA and USP7, a new couple in transcription-coupled DNA repair

Transcription-coupled nucleotide excision repair (TC-NER) specifically removes transcription-blocking lesions from our genome. Defects in this pathway are associated with two human disorders: Cockayne syndrome (CS) and UV-sensitive syndrome (UV(S)S). Despite a similar cellular defect in the UV DNA d...

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Autores principales: Schwertman, Petra, Vermeulen, Wim, Marteijn, Jurgen A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3714559/
https://www.ncbi.nlm.nih.gov/pubmed/23760561
http://dx.doi.org/10.1007/s00412-013-0420-2
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author Schwertman, Petra
Vermeulen, Wim
Marteijn, Jurgen A
author_facet Schwertman, Petra
Vermeulen, Wim
Marteijn, Jurgen A
author_sort Schwertman, Petra
collection PubMed
description Transcription-coupled nucleotide excision repair (TC-NER) specifically removes transcription-blocking lesions from our genome. Defects in this pathway are associated with two human disorders: Cockayne syndrome (CS) and UV-sensitive syndrome (UV(S)S). Despite a similar cellular defect in the UV DNA damage response, patients with these syndromes exhibit strikingly distinct symptoms; CS patients display severe developmental, neurological, and premature aging features, whereas the phenotype of UV(S)S patients is mostly restricted to UV hypersensitivity. The exact molecular mechanism behind these clinical differences is still unknown; however, they might be explained by additional functions of CS proteins beyond TC-NER. A short overview of the current hypotheses addressing possible molecular mechanisms and the proteins involved are presented in this review. In addition, we will focus on two new players involved in TC-NER which were recently identified: UV-stimulated scaffold protein A (UVSSA) and ubiquitin-specific protease 7 (USP7). UVSSA has been found to be the causative gene for UV(S)S and, together with USP7, is implicated in regulating TC-NER activity. We will discuss the function of UVSSA and USP7 and how the discovery of these proteins contributes to a better understanding of the molecular mechanisms underlying the clinical differences between UV(S)S and the more severe CS.
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spelling pubmed-37145592013-07-18 UVSSA and USP7, a new couple in transcription-coupled DNA repair Schwertman, Petra Vermeulen, Wim Marteijn, Jurgen A Chromosoma Mini-Review Transcription-coupled nucleotide excision repair (TC-NER) specifically removes transcription-blocking lesions from our genome. Defects in this pathway are associated with two human disorders: Cockayne syndrome (CS) and UV-sensitive syndrome (UV(S)S). Despite a similar cellular defect in the UV DNA damage response, patients with these syndromes exhibit strikingly distinct symptoms; CS patients display severe developmental, neurological, and premature aging features, whereas the phenotype of UV(S)S patients is mostly restricted to UV hypersensitivity. The exact molecular mechanism behind these clinical differences is still unknown; however, they might be explained by additional functions of CS proteins beyond TC-NER. A short overview of the current hypotheses addressing possible molecular mechanisms and the proteins involved are presented in this review. In addition, we will focus on two new players involved in TC-NER which were recently identified: UV-stimulated scaffold protein A (UVSSA) and ubiquitin-specific protease 7 (USP7). UVSSA has been found to be the causative gene for UV(S)S and, together with USP7, is implicated in regulating TC-NER activity. We will discuss the function of UVSSA and USP7 and how the discovery of these proteins contributes to a better understanding of the molecular mechanisms underlying the clinical differences between UV(S)S and the more severe CS. Springer Berlin Heidelberg 2013-06-13 2013 /pmc/articles/PMC3714559/ /pubmed/23760561 http://dx.doi.org/10.1007/s00412-013-0420-2 Text en © The Author(s) 2013 https://creativecommons.org/licenses/by-nc/2.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Mini-Review
Schwertman, Petra
Vermeulen, Wim
Marteijn, Jurgen A
UVSSA and USP7, a new couple in transcription-coupled DNA repair
title UVSSA and USP7, a new couple in transcription-coupled DNA repair
title_full UVSSA and USP7, a new couple in transcription-coupled DNA repair
title_fullStr UVSSA and USP7, a new couple in transcription-coupled DNA repair
title_full_unstemmed UVSSA and USP7, a new couple in transcription-coupled DNA repair
title_short UVSSA and USP7, a new couple in transcription-coupled DNA repair
title_sort uvssa and usp7, a new couple in transcription-coupled dna repair
topic Mini-Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3714559/
https://www.ncbi.nlm.nih.gov/pubmed/23760561
http://dx.doi.org/10.1007/s00412-013-0420-2
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