Multiple interaction partners for Cockayne syndrome proteins: Implications for genome and transcriptome maintenance
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Cockayne syndrome (CS) is characterized by progressive multisystem degeneration and is classified as a segmental premature aging syndrome. The majority of CS cases are caused by defects in the CS complementation group B (CSB) protein and the rest are mainly caused by defects in the CS complementation group A (CSA) protein. Cells from CS patients are sensitive to UV light and a number of other DNA damaging agents including various types of oxidative stress. The cells also display transcription deficiencies, abnormal apoptotic response to DNA damage, and DNA repair deficiencies. Herein we have critically reviewed the current knowledge about known protein interactions of the CS proteins. The review focuses on the participation of the CSB and CSA proteins in many different protein interactions and complexes, and how these interactions inform us about pathways that are defective in the disease.
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The observation of more G:C → T:A mutations in CS-B cells alludes to CSB's additional role in oxidative DNA-damage repair, loss of which could result in increased oxidative damage-induced mutagenesis.
“Because G:C → T:A mutations are a signature of mutagenesis induced by 8-oxo-dG, the most common oxidative lesion in cells (37), this observation alludes to CSB ' s additional role in oxidative DNAdamage repair (21 -23), loss of which could result in increased oxidative damage-induced mutagenesis.”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [21]
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- Authors
- Aamann, M. D., Muftuoglu, M., Bohr, V. A., & Stevnsner, T.
- Affiliations
- Aarhus University (DK)
- National Institutes of Health (US)
- Corresponding author
- Stevnsner, Tinna
- Venue
- Mechanisms of Ageing and Development
- Publisher
- Elsevier BV
- Published
- 2013-05
- Volume
- 134
- Issue
- 5-6
- Pages
- 212-224
- ISSN
- 0047-6374 (ISSN-L)
- PMC
- PMC3695466
- OpenAlex
- W1995186757
- Cited by
- 34
- References
- 93
- Citations by year
- 2025: 3 · 2024: 1 · 2023: 1 · 2022: 5 · 2021: 2 · 2020: 2 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 3 · 2015: 1 · 2014: 8 · 2013: 1
- FWCI
- 0.41
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Mechanisms of Ageing and Development (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Velux Stiftung
- National Institutes of Health
- National Institute on Aging (ZIAAG000722)
- 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
- Cockayne syndrome, protein-protein interaction, premature aging, genome maintenance, DNA damage response, UV sensitivity, oxidative stress, apoptosis, DNA repair, protein complexes
- MeSH terms
- Poly-ADP-Ribose Binding Proteins, Animals, DNA Damage, DNA Repair, DNA Helicases, Humans, Transcription Factors, Genome, Human, DNA Repair Enzymes, Transcriptome
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