PXD009905 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | SRRM4/nSR100 directs neuronal-specific microexon splicing of TAF1 mRNA involved in X-linked Dystonia-Parkinsonism |
Description | X-linked dystonia-parkinsonism is a neurodegenerative disease, which is caused by a SVA retrotransposon insertion within TAF1, gene encoding an integral component of the basal transcription factor TFIID. The SVA insertion has been shown to induce defects both in biosynthesis and in alternative splicing of TAF1 mRNA in various cell types. This includes the reduction of a neuron-specific isoform of TAF1 mRNA generated by inclusion of the evolutionary conserved microexon 34’ (TAF1-34’). In this study, we investigated the tissue distribution of TAF1-34’ mRNA and protein and the neuron-specific mechanism sustaining its alternative splicing. Using isoform-specific RNA probes and antibodies, we observe that canonical TAF1 and TAF1-34’ have different distributions in the brain. To our knowledge, this is the first in situ detection of a microexon. We find that the differential expression of these two isoforms distinguishes proliferating from post-mitotic neurons in vitro and in vivo. Knockdown and ectopic expression experiments in cell lines demonstrated that the neuron-specific splicing factor nSR100/SRRM4 is directing the inclusion of microexon 34’ into TAF1 mRNA. These results show that SRRM4 regulates temporal and spatial distribution of alternative TAF1 mRNAs to generate a neuron-specific isoform of basal transcription factor TFIID. |
HostingRepository | PRIDE |
AnnounceDate | 2020-05-26 |
AnnouncementXML | Submission_2020-05-26_11:51:31.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Oliver Schilling |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | Q Exactive |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2018-05-25 04:34:34 | ID requested | |
⏵ 1 | 2020-05-26 11:51:32 | announced | |
2 | 2024-10-22 05:04:48 | announced | 2024-10-22: Updated project metadata. |
Publication List
Capponi S, St, ö, ffler N, Irimia M, Van Schaik FMA, Ondik MM, Biniossek ML, Lehmann L, Mitschke J, Vermunt MW, Creyghton MP, Graybiel AM, Reinheckel T, Schilling O, Blencowe BJ, Crittenden JR, Timmers HTM, mRNA is directly regulated by SRRM4/nSR100. RNA Biol, 17(1):62-74(2020) [pubmed] |
Keyword List
curator keyword: Biomedical |
submitter keyword: epidgenetics, co-immunoprecipitation |
Contact List
Oliver Schilling |
contact affiliation | Institute of Molecular Medicine and Cell Research University of Freiburg Stefan-Meier-Str. 17, D-79104 Freiburg, Germany |
contact email | oliver.schilling@mol-med.uni-freiburg.de |
lab head | |
Oliver Schilling |
contact affiliation | University of Freiburg |
contact email | oliver.schilling@mol-med.uni-freiburg.de |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD009905
- Label: PRIDE project
- Name: SRRM4/nSR100 directs neuronal-specific microexon splicing of TAF1 mRNA involved in X-linked Dystonia-Parkinsonism