PXD064425-1

PXD064425 is an original dataset announced via ProteomeXchange.

Title	Zscan4 as a candidate conveyor of early developmental defects in O-GlcNAc transferase intellectual disability
Description	Variants in the human β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) gene give rise to an intellectual disability (ID) syndrome termed OGT congenital disorder of glycosylation (OGT-CDG). The mechanisms by which loss of OGT and/or protein O-GlcNAcylation lead to this syndrome are not understood, but symptoms associated with the syndrome suggest a developmental origin. Here, we establish and characterise two lines of mouse embryonic stem cells carrying different patient mutations and show that these mutations lead to disrupted O-GlcNAc homeostasis. Using quantitative proteomics on these cells in the pluripotent state, we identify candidate proteins/pathways that could underpin this syndrome. In addition to the increased levels of OGT and decreased levels of OGA reflecting disrupted O-GlcNAc homeostasis, we find that expression of the ID gene Zscan4 is upregulated. This is associated with increased levels of the OGT:Ten Eleven (Tet) - protein complex that regulates DNA methylation and Zscan4 expression. These data uncover a potential mechanism contributing to the developmental aspects of OGT-CDG.
HostingRepository	PRIDE
AnnounceDate	2025-10-03
AnnouncementXML	Submission_2025-10-03_03:30:40.653.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Maria Veroncia Pravata
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2025-05-29 11:56:55	ID requested
⏵ 1	2025-10-03 03:30:41	announced

10.1016/j.mcpro.2025.101077;

Pravata VM, Jiang H, Ferenbach AT, Lamond A, van Aalten DMF, Zscan4 as a candidate conveyor of early developmental defects in O-GlcNAc transferase intellectual disability. Mol Cell Proteomics, ():101077(2025) [pubmed]

submitter keyword: O-GlcNAc transferase, TMT, Mouse

Daan van Aalten
contact affiliation	Department of Molecular Biology and Genetics - Cellular Health, Intervention, and Nutrition, Aarhus University
contact email	daan@mbg.au.dk
lab head
Maria Veroncia Pravata
contact affiliation	Ludwig-Maximilians-Universität München, Großhaderner Str. 9, 82152 Planegg
contact email	veronica.pravata@bmc.med.lmu.de
dataset submitter

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/2025/10/PXD064425

PRIDE project URI

• PRIDE
  1. PXD064425
     1. Label: PRIDE project
     2. Name: Zscan4 as a candidate conveyor of early developmental defects in O-GlcNAc transferase intellectual disability