⮝ Full datasets listing
PXD070589-1
PXD070589 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | The RNA Exosome Maintains Cellular RNA Homeostasis by Controlling Transcript Abundance in the Brain |
| Description | Intracellular ribonucleases (RNases) are essential for maintaining accurate RNA levels. Inherited mutations in genes encoding ubiquitous RNases are associated with human diseases, primarily affecting the nervous system. Recessive mutations in genes encoding the evolutionarily conserved RNA exosome, an RNase complex, cause syndromic neurodevelopmental disorders, such as Pontocerebellar Hypoplasia Type 1b (PCH1b), characterized by progressive neurodegeneration. Here, we establish a CRISPR/Cas9-engineered Drosophila model of PCH1b to investigate the cell-type-specific post-transcriptional regulatory functions of the RNA exosome complex in vivo. Pathogenic variants in Rrp40, a subunit of the complex, disrupt RNA exosome activity, leading to widespread transcriptomic dysregulation in brain-enriched cell populations, including defective rRNA processing. These molecular defects coincide with progressive neurodegeneration and behavioral impairments that track with allele severity. Our findings provide a cell-type-resolved view of RNA exosome function in a fully developed animal brain and underscore the critical role of RNA surveillance in safeguarding transcriptome homeostasis and neuronal integrity. |
| HostingRepository | MassIVE |
| AnnounceDate | 2025-11-11 |
| AnnouncementXML | Submission_2025-11-11_08:14:14.174.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Emma Doud |
| SpeciesList | scientific name: Drosophila |
| ModificationList | TMTpro |
| Instrument | Orbitrap Eclipse |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2025-11-11 08:00:01 | ID requested | |
| ⏵ 1 | 2025-11-11 08:14:14 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: RNA Exosome, Neuronal Transcriptome Homeostasis, Pontocerebellar Hypoplasia Type 1b (PCH1b), EXOSC3, Rrp40, RNA processing and degradation, Arc1, DatasetType:Proteomics |
Contact List
| Amber L. Mosley | |
|---|---|
| contact affiliation | Indiana University School of Medicine |
| contact email | almosley@iu.edu |
| lab head | |
| Emma Doud | |
| contact affiliation | IUSM |
| contact email | edoud@iu.edu |
| dataset submitter | |
Full Dataset Link List
| MassIVE dataset URI |
| Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://massive-ftp.ucsd.edu/v11/MSV000099840/ |
