ArticleNucleic acids research2020
Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation.
Article in Nucleic acids research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 44 citations in OpenAlex.
- Nucleolin Alterations and ROS Production Associate With Sensitivity of AML Cells to Venetoclax.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- NBS1 facilitates preribosomal RNA biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- It Takes a Village of Chromatin Remodelers to Regulate rDNA Expression.International journal of molecular sciences · 2025Review
- Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.Journal of Zhejiang University. Science. B · 2024Review
- Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.Nature communications · 2024Article
- LncRNA SNHG26 promotes gastric cancer progression and metastasis by inducing c-Myc protein translation and an energy metabolism positive feedback loop.Cell death & disease · 2024Article
- Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.Molecular genetics & genomic medicine · 2023Article
- Article
- A Non-G-Quadruplex DNA Aptamer Targeting NCL for Diagnosis and Therapy in Bladder Cancer.Advanced healthcare materials · 2023Article
- Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks.Movement disorders clinical practice · 2023Article
- TFIIH mutations can impact on translational fidelity of the ribosome.Human molecular genetics · 2023Article
- Roles of ribosomal RNA in health and disease.Frontiers in RNA research · 2023Article
- Long-range DNA interactions: inter-molecular G-quadruplexes and their potential biological relevance.Chemical communications (Cambridge, England) · 2022Review
- Neurogenesis in aging and age-related neurodegenerative diseases.Ageing research reviews · 2022Review
- Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.Orphanet journal of rare diseases · 2022Article
- A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer.Frontiers in aging · 2022Review
- Article
- Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.Nucleic acids research · 2021Article
- Overexpression of ARHGAP30 suppresses growth of cervical cancer cells by downregulating ribosome biogenesis.Cancer science · 2021Article
- Oxidative damage-induced hyperactive ribosome biogenesis participates in tumorigenesis of offspring by cross-interacting with the Wnt and TGF-β1 pathways in IVF embryos.Experimental & molecular medicine · 2021Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Cockayne Syndrome (CS) is a rare neurodegenerative disease characterized by short stature, accelerated aging and short lifespan. Mutations in two human genes, ERCC8/CSA and ERCC6/CSB, are causative for CS and their protein products, CSA and CSB, while structurally unrelated, play roles in DNA repair and other aspects of DNA metabolism in human cells. Many clinical and molecular features of CS remain poorly understood, and it was observed that CSA and CSB regulate transcription of ribosomal DNA (rDNA) genes and ribosome biogenesis. Here, we investigate the dysregulation of rRNA synthesis in CS. We report that Nucleolin (Ncl), a nucleolar protein that regulates rRNA synthesis and ribosome biogenesis, interacts with CSA and CSB. In addition, CSA induces ubiquitination of Ncl, enhances binding of CSB to Ncl, and CSA and CSB both stimulate the binding of Ncl to rDNA and subsequent rRNA synthesis. CSB and CSA also increase RNA Polymerase I loading to the coding region of the rDNA and this is Ncl dependent. These findings suggest that CSA and CSB are positive regulators of rRNA synthesis via Ncl regulation. Most CS patients carry mutations in CSA and CSB and present with similar clinical features, thus our findings provide novel insights into disease mechanism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.