Direct and indirect effects of spliceosome disruption compromise gene regulation by Nonsense-Mediated mRNA Decay
2024
Effects of Spliceosome Disruption on Gene Regulation
Sample size: 18
publication
Evidence: moderate
Author Information
Author(s): Caleb M. Embree, Andreas Stephanou, Guramrit Singh
Primary Institution: Cold Spring Harbor Laboratory
Hypothesis
Does spliceosome disruption lead to upregulation of NMD targets?
Conclusion
Spliceosome disruption upregulates a broad set of NMD targets, potentially contributing to cellular dysfunction.
Supporting Evidence
- Spliceosome disruption leads to upregulation of NMD targeted mRNA isoforms.
- Four spliceosome proteins may have a direct role in NMD.
- Transcriptome alterations are observed in cells treated with spliceosome inhibitors.
- Similar effects are seen in cells from retinitis pigmentosa patients.
Takeaway
When the spliceosome, a machine that helps make RNA, doesn't work right, it can cause problems in how genes are controlled.
Methodology
Analysis of RNA-seq datasets from K562 and HepG2 cells depleted of spliceosome components.
Participant Demographics
K562 and HepG2 cell lines.
Digital Object Identifier (DOI)
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