PXD028911 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Conserved proteomic programs between human cerebral tissue and organoids implicate RUVBL2 in neurodevelopment and disease |
Description | Cerebral organoids have emerged as faithful humanoid avatars for modeling numerous advanced neurodevelopmental and pathological processes and additionally serve as a powerful discovery platform for less well-characterized neurobiological programs. Towards this later prospect, we leveraged mass spectrometry-based proteomics to molecularly profile precursor and more committed neural compartments of both human-derived organoids and mid-gestation fetal brain tissue to define overlapping protein-level programs. Interestingly, this included numerous precursor-enriched transcriptional regulatory proteins that were notably not found to be differentially expressed in previous transcriptomic datasets. Specifically, we show that the RuvB-like 2 (RUVBL2) AAA-type ATPase is preferentially expressed in the SOX2-positive compartment of organoids and chemical inactivation leads to precursor cell displacement and apoptosis within the more mature DCX-positive niche. To explore potential clinicopathological correlates of this disruption in organoid cytoarchitecture, we interrogated various clinical datasets, and identified de novo deletions, missense mutations and a novel recurring tandem duplication involving RUVBL2 in patients diagnosed with neurodevelopmental and autism spectrum disorders. Together, our study demonstrates how cell-type specific and phenotype-level profiling of cerebral organoids can help nominate and implicate previously unappreciated genes in neurodevelopment and disease. |
HostingRepository | PRIDE |
AnnounceDate | 2022-04-07 |
AnnouncementXML | Submission_2022-04-07_04:21:36.534.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Ugljesa Djuric |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | Q Exactive HF |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2021-10-04 04:46:03 | ID requested | |
⏵ 1 | 2022-04-07 04:21:36 | announced | |
Publication List
Dataset with its publication pending |
Keyword List
submitter keyword: Cerebral organoids, proteomics, mass spectrometry, neurodevelopment |
Contact List
Phedias Diamandis |
contact affiliation | University Health Network, University of Toronto |
contact email | p.diamandis@mail.utoronto.ca |
lab head | |
Ugljesa Djuric |
contact affiliation | Mt. Sinai Hospital |
contact email | ugljesa.djuric@mail.utoronto.ca |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD028911
- Label: PRIDE project
- Name: Conserved proteomic programs between human cerebral tissue and organoids implicate RUVBL2 in neurodevelopment and disease