Omics · study · 2026
Bulk RNA-sequencing of single 6 dpf wild-type and osgep G177A homozygote larvae
Listed in NCBI GEO
The OSGEP gene encodes a KEOPS (Kinase, Endopeptidase and Other Proteins of Small size) complex subunit catalyzing N6-threonylcarbamoyladenosine (t6A) modification to A37 of ANN tRNAs.
Description
This modification enhances the accuracy and efficiency of protein synthesis, and variants in OSGEP are linked to Galloway-Mowat syndrome, with clinical features including intellectual disability, developmental delay, seizures, microcephaly, other brain abnormalities and kidney problems.
The KEOPS complex may also function in telomere length regulation, genome maintenance, and DNA damage response. OSGEP knockdown in human cells impairs cellular proliferation and translation, increases ER stress and apoptosis, activates the DNA damage response, and disrupts actin regulation. Frameshift zebrafish osgep mutants exhibit microcephaly, increased apoptosis in the brain, and early lethality.
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Based on human-genetic data, we generated a zebrafish osgep G177A knock-in mutant. osgepG177A/G177A larvae have reduced eye and head sizes relative to wildtype. The mutants become very small and about 70% of them die during the first 4-5 weeks post-fertilization. We determined that the p53 pathway is activated in osgepG177A/G177A embryos and leads to an increase in apoptosis.
However, loss of tp53 does not rescue the morphological phenotypes or survival of osgep mutants. RNA-sequencing of single wildtype and osgepG177A/G177A larvae identified >1000 differentially-expressed genes. Up-regulated genes were significantly associated with protein folding, endoplasmic reticulum, RNA processing/maturation, and ribosome biogenesis.
Down-regulated genes were strongly enriched among translation-related terms, developmental terms, immune and hematopoietic terms, inflammatory response as well as Ribosome, Proteasome, Ferroptosis, Apoptosis and Oxidative Phosphorylation pathways.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE330nnn/GSE330158 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE330158 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1462853 ncbi.nlm.nih.gov/bioproject/PRJNA1462853 ↗
project · from NCBI GEO
Topics
- Stated by source
- Danio rerio · Expression profiling by high throughput sequencing
- From keywords
- Life Sciences
- Inferred from text
- Agricultural biotechnology 69%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE330158 | 14 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].anzsrc:group:3001 | enrichment · NCBI GEO | taxonomy-embedding@1.1.0 | title+keywords+description (69%) |
| 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:7955 | 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 |