PXD056859 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | An Nlrp5-null mutation leads to attenuated de novo methylation in oocytes, accompanied by significant reduction in DNMT3L |
| Description | Nlrp5 encodes a core component of the subcortical maternal complex (SCMC) a cytoplasmic protein structure unique to the mammalian oocyte and cleavage-stage embryo. NLRP5 mutations have been identified in patients presenting with early embryo arrest, recurrent molar pregnancies and imprinting disorders. It was previously shown that oocytes with mutations in the human SCMC gene KHDC3L had globally impaired methylation, suggesting a requirement for integrity of the SCMC in the establishment of DNA methylation. Here, we present a multi-omic analysis of an Nlrp5-null mouse model. We detect global misregulation of maternal proteins, including profound reduction in the essential de novo methylation factor DNMT3L, which could contribute to attenuated de novo methylation we observe. In contrast, the maintenance methyltransferase DNMT1 exhibits normal cytoplasmic localisation. This provides evidence for mechanisms leading to downstream misregulation of imprinted genes, which in turn, may result in imprinting syndromes, multi-locus imprinting disturbances (MLID) and hydatidiform moles. |
| HostingRepository | PRIDE |
| AnnounceDate | 2025-12-22 |
| AnnouncementXML | Submission_2025-12-21_16:18:18.297.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | David Oxley |
| SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090; |
| ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
| Instrument | Orbitrap Fusion Lumos |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2024-10-16 08:53:58 | ID requested | |
| ⏵ 1 | 2025-12-21 16:18:19 | announced | |
Publication List
| Nic Aodha L, Pokhilko A, Rosen LU, Galatidou S, Walewska E, Belton C, Galvao A, Okkenhaug H, Yu L, Nakhuda A, Mansfield B, Khan S, Oxley D, Barrag, รก, n M, Kelsey G, An Nlrp5-null mutation leads to attenuated de novo methylation in oocytes, accompanied by a significant reduction in DNMT3L. Mol Hum Reprod, 31(4):(2025) [pubmed] |
| 10.1093/molehr/gaaf055; |
Keyword List
| submitter keyword: Nlrp5, subcortical maternal complex, oocyte, DNA methylation |
Contact List
| david oxley |
|---|
| contact affiliation | Babraham Institute, Cambridge, UK |
| contact email | david.oxley@babraham.ac.uk |
| lab head | |
| David Oxley |
|---|
| contact affiliation | Babraham Institute |
| contact email | david.oxley@babraham.ac.uk |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD056859
- Label: PRIDE project
- Name: An Nlrp5-null mutation leads to attenuated de novo methylation in oocytes, accompanied by significant reduction in DNMT3L
