Cited by 49DNA Repair MechanismsNuclear Structure and FunctionUbiquitin and proteasome pathways

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

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Schwertman, Petra, Vermeulen, Wim, Marteijn, Jurgen A·2013·Chromosoma

Abstract

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 (UVSS). 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 UVSS 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 UVSS 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 UVSS and the more severe CS.

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Crossref · 10.1007/s00412-013-0420-2

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  • This event may be promoted by transcription factor TFIIS, which acts as a stimulator of RNAPII mRNA-cleavage activity.

    “This event may be promoted by transcription factor TFIIS that acts as a stimulator of RNAPIIs mRNA-cleavage activity.”
  • Backtracking of RNAPII allows correction of misincorporated nucleotides in RNA:DNA hybrids within transcription bubbles via cleavage of 3′ protruding RNA parts with mismatched nucleotides.

    “Moreover, backtracking of RNAPII allows correction of misincorporated nucleotides in RNA:DNA hybrids within transcription bubbles via cleavage of 3′ protruding RNA parts with mismatched nucleotides.”

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Authors
Schwertman, P., Vermeulen, W., & Marteijn, J. A.
Affiliations
Erasmus MC (NL)
Corresponding author
Vermeulen, Wim
Venue
Chromosoma
Published
2013-06-13
Volume
122
Issue
4
Pages
275-284
ISSN
  • 0009-5915 (ISSN-L)
  • 1432-0886
OpenAlex
W2135715308
Cited by
49
References
80
Citations by year
2026: 1 · 2025: 2 · 2024: 3 · 2023: 4 · 2022: 2 · 2021: 5 · 2020: 2 · 2019: 4 · 2018: 4 · 2017: 4 · 2016: 6 · 2015: 2 · 2014: 10
FWCI
0.56
Type
journal article
Language
en
Open access
Locations
  • Chromosoma (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Funders
ZonMw (912.12.132, 912.08.031)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
Keywords
USP7, transcription-coupled repair, Cockayne syndrome, UV hypersensitivity
MeSH terms
Ubiquitin-Specific Peptidase 7, Animals, Carrier Proteins, Cockayne Syndrome, DNA Repair, Humans, Photosensitivity Disorders, Transcription, Genetic, Ubiquitin Thiolesterase

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