Omics · study · 2026
Analysis of FMR1 splicing in FXS iPSCs
Listed in NCBI GEO
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of FMRP that, with rare exceptions, results from CGG expansion in the promoter region of FMR1.
Description
The trinucleotide expansion has long been thought to induce epigenetic silencing of the FMR1 locus, resulting in complete loss of expression at the mRNA level. However, a recent study reported that FMR1 is transcribed in a substantial proportion of FXS tissues, yet due to mis-splicing, no FMRP protein is produced.
The current study sought to independently validate this key finding in FXS iPSCs. FXS patient-derived iPSCs with a transcriptionally silenced FMR1 locus were treated with 5-AzadC for 48 hours to induce reactivation of the FMR1 locus. RNA was subsequently isolated from treated and untreated iPSCs and analyzed by RNA-sequencing.
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Our findings demonstrate that while FMR1 is reactivated following 5-AzadC treatment, no FMRP is expressed, likely due to mis-splicing of the FMR1 transcript. These results have important implications for understanding FXS pathogenesis and developing therapeutic strategies targeting the expanded FMR1 locus.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE307nnn/GSE307114 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE307114 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1314621 ncbi.nlm.nih.gov/bioproject/PRJNA1314621 ↗
project · from NCBI GEO
- PubMed 41923202 pubmed.ncbi.nlm.nih.gov/41923202 ↗
publication · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
Provenance · 1 source records, 7 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE307114 | 13 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |