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Series GSE122736 Query DataSets for GSE122736
Status Public on Mar 16, 2020
Title Convergence of Cockayne Syndrome Group A and B Proteins at rRNA Transcription through Nucleolin Regulation
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Cockayne Syndrome (CS) is a rare neurodegenerative disease characterized by short stature, cachexia, sun-sensitivity, accelerated aging, and short lifespan. Mutations in two human genes, ERCC8/CSA and ERCC6/CSB, are causative for CS and the protein products of these genes, 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 has been suggested that CSA and CSB regulate transcription of rDNA genes and ribosome biogenesis. The goal of this study was to investigate the dysregulation of rRNA synthesis in CS. Here, we report that Nucleolin (Ncl), a nucleolar protein that regulates rRNA synthesis and ribosome biogenesis, interacts specifically with CSA and CSB. In addition, CSA induces ubiquitination of Ncl, enhances binding of CSB to Ncl, and CSA and CSB both stimulate binding of Ncl to rDNA and subsequent rRNA synthesis. These findings suggest that CSA and CSB are positive regulators of rRNA synthesis via Ncl regulation. A majority of CS patients carry mutations in CSA and CSB and present with similar clinical features, thus our findings may provide novel insights into disease mechanism and the neuropathological features of CS.
Overall design Examination of CSB UBD mutation expression compared to WT CSB in CS1AN cells
Contributor(s) Okur MN, Wasif O, Lee JH, Demarest TG, Croteau DL, Bohr VA
Citation(s) 31970402
Submission date Nov 20, 2018
Last update date Jun 22, 2020
Contact name Supriyo De
Organization name NIA-IRP, NIH
Department Laboratory of Genetics and Genomics
Lab Computational Biology & Genomics Core
Street address 251 Bayview Blvd
City Baltimore
State/province Maryland
ZIP/Postal code 21224
Country USA
Platforms (1)
GPL24676 Illumina NovaSeq 6000 (Homo sapiens)
Samples (12)
GSM3484362 CSB_1: CSB WT rep1
GSM3484363 CSB_2: CSB WT rep2
GSM3484364 CSB_3: CSB WT rep3
BioProject PRJNA506206
SRA SRP169852

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Supplementary file Size Download File type/resource
GSE122736_RAW.tar 9.9 Mb (http)(custom) TAR (of XLSX)
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Raw data are available in SRA
Processed data provided as supplementary file

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