UVSSA and USP7: New players regulating transcription-coupled nucleotide excision repair in human cells
Open accessAbstract
Transcription-coupled nucleotide excision repair (TC-NER) specifically removes DNA damage located in actively transcribed genes. Defects in TC-NER are associated with several human disorders, including Cockayne syndrome (CS) and ultraviolet (UV)-sensitive syndrome (UVSS). Using exome sequencing, and genetic and proteomic approaches, three recent studies have identified mutations in the UVSSA gene as being responsible for UVSS-A. These findings suggest a new mechanistic model involving UV-stimulated scaffold protein A (UVSSA) and the ubiquitin-specific protease 7 (USP7) in the fate of stalled RNA polymerase II during TC-NER, and provide insights into the diverse clinical features of CS and UVSS.
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USP7 interacts with UVSSA, and this interaction is critical for restoration of gene expression upon UV irradiation.
“Furthermore, it interacts with another protein UV-stimulated scaffold protein A (UVSSA) and this interaction is critical for restoration of gene expression upon UV irradiation [100].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [100]
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.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [100]
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.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [100]
USP7 works as a ubiquitin carboxyl-terminal hydrolase and possesses multiple roles in DDR.
“USP7 works as a ubiquitin carboxyl-terminal hydrolase and possess multiple roles in the DDR.”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [100]
USP7 has a direct role in the DNA damage response via regulation of the nucleotide excision repair (NER) pathway.
“Aside from activating p53, multiple studies have suggested that USP7 also has a direct role in the DNA damage response via regulation of the nucleotide excision repair (NER) pathway (Sarasin, 2012; Schwertman et al., 2012; He et al., 2014; Higa et al., 2016; Zhu et al., 2020; Figure 3F).”
From USP7 Is a Master Regulator of Genome Stability (2020) · cites this paper as Sarasin, 2012
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Cites
Transcription-coupled DNA repair: two decades of progress and surprises
Hanawalt, P. C., & Spivak, G. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2549 · Cited by 1,038 · see citing works
DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Lehmann, A. (2003) · Biochimie · doi:10.1016/j.biochi.2003.09.010 · Cited by 496 · see citing works
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair
Schwertman, P., Lagarou, A., Dekkers, D. H. W., Raams, A., van der Hoek, A. C., Laffeber, C., Hoeijmakers, J. H. J., Demmers, J. A. A., Fousteri, M., Vermeulen, W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2230 · Cited by 279 · see citing works
Nakazawa, Y., Sasaki, K., Mitsutake, N., Matsuse, M., Shimada, M., Nardò, T., Takahashi, Y., Ohyama, K., Ito, K., Mishima, H., et al. (2012) · Nature Genetics · doi:10.1038/ng.2229 · Cited by 213 · see citing works
Zhang, X., Horibata, K., Saijo, M., Ishigami, C., Ukai, A., Kanno, S.-I., Tahara, H., Neilan, E. G., Honma, M., Nohmi, T., et al. (2012) · Nature Genetics · doi:10.1038/ng.2228 · Cited by 201 · see citing works
Nardò, T., Oneda, R., Spivak, G., Vaz, B., Mortier, L., Thomas, P., Orioli, D., Laugel, V., Stary, A., Hanawalt, P. C., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902113106 · Cited by 140 · see citing works
Self-citationItoh, T., Ono, T., & Yamaizumi, M. (1994) · Mutation Research/DNA Repair · doi:10.1016/0921-8777(94)90068-x · Cited by 97 · see citing works
Spivak, G. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.03.017 · Cited by 86 · see citing works
New insights for understanding the transcription-coupled repair pathway
Sarasin, A., & Stary, A. (2007) · DNA Repair · doi:10.1016/j.dnarep.2006.12.001 · Cited by 66 · see citing works
Self-citationLaugel, V., Dalloz, C., Stary, A., Cormier‐Daire, V., Desguerre, I., Renouil, M., Fourmaintraux, A., Vélez-Cruz, R., Egly, J., Sarasin, A. R., et al. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201991 · Cited by 43 · see citing works
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Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies
Kciuk, M., Marciniak, B., Mojzych, M., & Kontek, R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197264 · Cited by 168 · see citing works
“(UVSSA) and this interaction is critical for restoration of gene expression upon UV irradiation [100].”
BackgroundUSP7 Is a Master Regulator of Genome Stability
Valles, G. J., Bezsonova, I., Woodgate, R., & Ashton, N. W. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00717 · Cited by 114 · see citing works
“Aside from activating p53, multiple studies have suggested that USP7 also has a direct role in the DNA damage response via regulation of the nucleotide excision repair (NER) pathway (Sarasin, 2012; Schwertman et al., 2012; He et al., 2014; Higa et al., 2016; Zhu et al., 2020; Figure 3F).”
BackgroundRegulation of DNA Repair Mechanisms: How the Chromatin Environment Regulates the DNA Damage Response
Stadler, J., & Richly, H. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18081715 · Cited by 110 · see citing works
USP7 modulates UV-induced PCNA monoubiquitination by regulating DNA polymerase eta stability.
Qian, J., Pentz, K., Zhu, Q., Wang, Q., He, J., Srivastava, A. K., & Wani, A. A. (2015) · Oncogene · doi:10.1038/onc.2014.394 · Cited by 61 · see citing works
UVSSA and USP7, a new couple in transcription-coupled DNA repair
Schwertman, P., Vermeulen, W., & Marteijn, J. A. (2013) · Chromosoma · doi:10.1007/s00412-013-0420-2 · Cited by 49 · see citing works
- Authors
- Sarasin, A.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Sarasin, Alain
- ORCID
- Sarasin, Alain
- Venue
- Genome Medicine
- Published
- 2012
- Volume
- 4
- Issue
- 5
- Pages
- 44
- ISSN
- 1756-994X (ISSN-L)
- PMC
- PMC3506910
- OpenAlex
- W2107746854
- Cited by
- 34
- References
- 10
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 5 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 3 · 2015: 1 · 2014: 6 · 2013: 1 · 2012: 2
- FWCI
- 1.29
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome Medicine (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- 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 › Genetics › Genomics and Rare Diseases
- Keywords
- USP7, transcription-coupled repair, Cockayne syndrome, RNA polymerase II stalling, exome sequencing
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