PXD057208 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Roles of SNORD115 and SNORD116 ncRNA clusters in neuronal differentiation |
Description | Prader-Willi syndrome shows features linked to brain development and hypothalamus-related endocrine abnormalities. The smallest clinical deletions fall within the large (∼650Kb) SNHG14 gene, removing 29 consecutive introns that each generate SNORD116. SNHG14 also includes 48 tandem introns encoding SNORD115 and generates multiple, extended snoRNA-related species. SNORD115 and SNORD116 resemble box C/D small nucleolar RNAs (snoRNAs) but lack known targets. Both snoRNAs strongly accumulated during neuronal differentiation. SNORD116 accumulation apparently reflected stabilization, potentially linked to the appearance of FBLL1, a homologue of the ubiquitous snoRNA-associated protein Fibrillarin (FBL). In contrast, SNORD115 was selectively transcribed, apparently due to regulated termination. For functional characterization we created cell lines lacking only the expressed, paternal, SNORD115 or SNORD116 cluster. Analyses during neuronal development indicated changes in RNA stability and protein synthesis. Altered mRNAs included MAGEL2, mutation of which causes the PWS-like disorder Schaaf-Yang syndrome. Comparison of SNORD115 and SNORD116 mutants indicated overlapping or interacting functions. Most changes in mRNA and protein abundance appeared relatively late in development, with roles including cytoskeleton formation, extracellular matrix, neuronal arborization. Comparison with human embryonic midbrain development suggested enhanced progression in neuronal development in the snoRNA mutants. Subtle impairment of relative neuronal maturation during development, might generate the clinical phenotypes. |
HostingRepository | PRIDE |
AnnounceDate | 2025-02-15 |
AnnouncementXML | Submission_2025-02-15_15:19:57.012.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Christos Spanos |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | Orbitrap Fusion Lumos |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2024-10-25 11:14:12 | ID requested | |
⏵ 1 | 2025-02-15 15:19:57 | announced | |
Publication List
Keyword List
submitter keyword: small nucleolar RNAs, DIA,Prader-Willi syndrome, SNORD116, SNORD115 |
Contact List
David Tollervey |
contact affiliation | University of Edinburgh |
contact email | d.tollervey@ed.ac.uk |
lab head | |
Christos Spanos |
contact affiliation | University of Edinburgh |
contact email | spanos.christos@gmail.com |
dataset submitter | |
Full Dataset Link List
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://ftp.pride.ebi.ac.uk/pride/data/archive/2025/02/PXD057208 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD057208
- Label: PRIDE project
- Name: Roles of SNORD115 and SNORD116 ncRNA clusters in neuronal differentiation