PXD066614-1

PXD066614 is an original dataset announced via ProteomeXchange.

Title	Quantitative phosphoproteomic analysis of the effect of deletion and duplication of the 16p11.2 genomic locus on induced pluripotent stem cells-derived neural progenitor cells
Description	Deletion and duplication of the 16p11.2 genomic locus are associated with opposing changes in brain size. To determine cellular mechanisms that might underlie these opposing phenotypes, we performed quantitative phosphoproteomics on induced pluripotent stem cells (iPSC) derived neural progenitor cells (NPCs) obtained from unaffected individuals, 16p11.2 deletion, and duplication carriers. Differentially phosphorylated proteins were enriched in centrosomal and cilia proteins. Deletion NPCs showed longer primary cilium compared to unaffected individuals, while stunted cilia were observed in duplication NPCs. Through cellular screens in NPCs, we determined the contribution of genes within the 16p11.2 locus to cilium length. TAOK2 and PPP4C were found to regulate primary cilia length. NPCs lacking TAOK2, a protein kinase, exhibited elongated cilia, aberrant IFT88 and pericentrin accumulation, and impaired SHH signaling. These findings implicate aberrant cilia length in the pathophysiology of 16p11.2 copy number variation, and establish TAOK2 kinase as a regulator of primary cilium length.
HostingRepository	PRIDE
AnnounceDate	2025-07-28
AnnouncementXML	Submission_2025-07-28_10:54:01.991.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Juan Oses-Prieto
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	phosphorylated residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2025-07-26 12:11:23	ID requested
⏵ 1	2025-07-28 10:54:02	announced

Dataset with its publication pending

submitter keyword: TAOK2, phosphorylation, neural progenitor cells,cilia length

Smita Yadav
contact affiliation	Department of Pharmacology | UW School of Medicine Institute of Stem Cell and Regenerative Medicine | University of Washington, Seattle, USA
contact email	smitay@uw.edu
lab head
Juan Oses-Prieto
contact affiliation	UCSF
contact email	joses@cgl.ucsf.edu
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD066614
     1. Label: PRIDE project
     2. Name: Quantitative phosphoproteomic analysis of the effect of deletion and duplication of the 16p11.2 genomic locus on induced pluripotent stem cells-derived neural progenitor cells