PXD062005-1
PXD062005 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Overexpression of ATase1 and ATase2 in the mouse disrupts the quality of the secretome and causes a progeria phenotype |
| Description | Acetylation in the lumen of the endoplasmic reticulum requires two acetyltransferases, ATase1/NAT8B and ATase2/NAT8. They are type II membrane proteins and belong to the larger GNAT superfamily of acetyltransferases. Their enzymatic activity is tightly coupled to the import of acetyl-CoA in the lumen of the endoplasmic reticulum by AT-1/SLC33A1. Gene duplication events involving 3q25.31 (harboring AT-1/SLC33A1) and 2p13.1 (harboring ATase1/ NAT8B and ATase2/NAT8) are associated with autism spectrum disorder with intellectual disability and progeria-like dysmorphism. Here, we report the generation and phenotypic characterization of mice with systemic overexpression of ATase1 (ATase1 sTg) and ATase2 (ATase2 sTg). Overexpression of either ATase at conception was found to be lethal while overexpression at birth was found to cause a progeria-like phenotype that included skin alterations, lordokyphosis, reduced bone density, sarcopenia, splenomegaly, adenomegaly, and systemic inflammation. The phenotype of ATase1 sTg mice displayed incomplete penetrance, while the phenotype of ATase2 sTg displayed full penetrance and was more severe. Mechanistically, the phenotype was linked to altered dynamics of the secretory pathway with defects affecting the quality of the secretome. |
| HostingRepository | MassIVE |
| AnnounceDate | 2025-09-04 |
| AnnouncementXML | Submission_2025-09-04_09:15:38.126.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Feixuan |
| SpeciesList | scientific name: Mus musculus; common name: house mouse; NCBI TaxID: 10090; |
| ModificationList | Acetyl; unknown modification |
| Instrument | Orbitrap Fusion Lumos; Q Exactive HF |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2025-03-18 19:30:33 | ID requested | |
| ⏵ 1 | 2025-09-04 09:15:38 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: ATase1, ATase2, AT-1, acetyl-CoA, acetylation, DatasetType:Proteomics, DatasetType:Other (Glycoproteomics) |
Contact List
| Luigi Puglielli | |
|---|---|
| contact affiliation | University of Wisconsin-Madison |
| contact email | lp1@medicine.wisc.edu |
| lab head | |
| Feixuan | |
| contact affiliation | University of Wisconsin-Madison |
| contact email | fwu76@wisc.edu |
| dataset submitter | |
Full Dataset Link List
| MassIVE dataset URI |
| 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://massive-ftp.ucsd.edu/v09/MSV000097367/ |
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