⮝ Full datasets listing
PXD073717
PXD073717 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Loss of function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy |
| Description | Over 500 genes have been linked to various forms of inherited retinal diseases (IRDs), a class of Mendelian conditions affecting the survival and function of rod and cone photoreceptors and leading in most instances to progressive visual loss. Yet, some patients still lack a clear genetic diagnosis, suggesting that more disease-associated genes remain to be discovered. Following the genetic analysis of extended cohorts of individuals diagnosed with late-onset recessive retinal dystrophy, we identified biallelic combinations of six predicted null variants in MDM1 (now renamed SAXO6, stabilizer of axonemal microtubules 6) in six subjects from five families. Iterative ultrastructure expansion microscopy coupled with immuno-gold transmission electron microscopy revealed co-localization of SAXO6 with distinct ciliary microtubules from the immotile cilia present in rod and cone photoreceptors in human retina, as well as from the motile cilia present in lung epithelial cells. Cross-linking mass spectrometry uncovered an interaction between SAXO6 and alpha-tubulin, suggesting that SAXO6 is a microtubule inner protein, a component of the cilium that has never previously been linked to IRD. These results identify SAXO proteins in association with a Mendelian condition, highlighting the fundamental role of photoreceptor cilia in the preservation of retinal health. |
| HostingRepository | MassIVE |
| AnnounceDate | 2026-02-25 |
| AnnouncementXML | Submission_2026-02-25_12:15:24.485.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | danilo ritz |
| SpeciesList | scientific name: Bos taurus; common name: cattle; NCBI TaxID: 9913; |
| ModificationList | unknown modification |
| Instrument | Orbitrap Eclipse |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2026-01-28 08:30:34 | ID requested | |
| ⏵ 1 | 2026-02-25 12:15:25 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: inherited retinal diseases, retina, microtubule associated protein, connecting cilium, ciliopathy, retinitis pigmentosa, MDM1, SAXO, microtubule inner protein, DatasetType:Proteomics |
Contact List
| Alexander Schmidt | |
|---|---|
| contact affiliation | Biozentrum, Universtiy of Basel, 4056 Basel, Switzerland |
| contact email | alex.schmidt@unibas.ch |
| lab head | |
| danilo ritz | |
| contact affiliation | University of Basel |
| contact email | danilo.ritz@unibas.ch |
| 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/v12/MSV000100624/ |
