PXD071251 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Targeted antisense oligonucleotide therapy rescues PRPF31 expression in retinitis pigmentosa caused by a splicing mutation |
| Description | Pathogenic variants in splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa (RP), with mutations in PRPF31 being the most prevalent. Here, we characterize a novel intronic variant in PRPF31 (c.1074-11C>G) that creates a cryptic 3′ splice site, resulting in an aberrantly spliced transcript predicted to encode a protein with an altered C-terminus. However, the pathogenic protein was not detected in patient-derived induced pluripotent stem cells (iPSCs). In addition, expression of PRPF31 protein was reduced in patient iPSC-derived retinal pigment epithelium (RPE). To correct the splicing defect, we designed a panel of antisense oligonucleotides (ASOs) targeting putative RNA-binding sites in exon 10 and intron 10 and identified a candidate that corrects PRPF31 splicing in a minigene reporter system as well as in patient-derived iPSCs and RPE. Finally, we showed that ASO treatment enhances PRPF31 protein expression in patient iPSC-derived RPE, supporting its potential as a therapeutic approach to restore PRPF31 expression in RP patients. |
| HostingRepository | PRIDE |
| AnnounceDate | 2026-06-12 |
| AnnouncementXML | Submission_2026-06-12_05:11:47.934.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Marek Vrbacky |
| SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606; |
| ModificationList | iodoacetamide derivatized residue |
| Instrument | Orbitrap Exploris 480 |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2025-11-25 23:45:35 | ID requested | |
| ⏵ 1 | 2026-06-12 05:11:48 | announced | |
Publication List
Keyword List
| submitter keyword: PRPF31, cryptic splice site, ASO treatment,Retinitis pigmentosa, aberrant splicing |
Contact List
| David Stanek |
|---|
| contact affiliation | Laboratory of RNA Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague, Czechia |
| contact email | stanek@img.cas.cz |
| lab head | |
| Marek Vrbacky |
|---|
| contact affiliation | Czech Academy of Sciences |
| contact email | proteom.krc@gmail.com |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD071251
- Label: PRIDE project
- Name: Targeted antisense oligonucleotide therapy rescues PRPF31 expression in retinitis pigmentosa caused by a splicing mutation
