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Updated: Oct 31, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
Published on: December 9, 2016
Emerging roles of spliceosome in cancer and immunity
Hui Yang1, Bruce Beutler2, Duanwu Zhang3
1Department of Neurosurgery, Huashan Hospital, Shanghai Key laboratory of Brain Function Restoration and Neural Regeneration, MOE Frontiers Center for Brain Science, Institute for Translational Brain Research, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Abstract:
Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered to be general cell "housekeeping" machinery, mutations in core components of the spliceosome frequently correlate with cell- or tissue-specific phenotypes and diseases. In this review, we expound the links between spliceosome mutations, aberrant splicing, and human cancers. Remarkably, spliceosome-targeted therapies (STTs) have become efficient anti-cancer strategies for cancer patients with splicing defects. We also highlight the links between spliceosome and immune signaling. Recent studies have shown that some spliceosome gene mutations can result in immune dysregulation and notable phenotypes due to mis-splicing of immune-related genes. Furthermore, several core spliceosome components harbor splicing-independent immune functions within the cell, expanding the functional repertoire of these diverse proteins.
Insights
Mutations in the spliceosome, a cellular machine, link to cancer and immune issues. Spliceosome-targeted therapies offer new anti-cancer strategies for patients with splicing defects.
Area of Science:
- Molecular Biology
- Genetics
- Oncology
Background:
- The spliceosome is a crucial ribonucleoprotein complex responsible for precursor messenger RNA (pre-mRNA) splicing.
- While considered housekeeping machinery, mutations in spliceosome components are linked to specific diseases and phenotypes.
- Aberrant splicing due to spliceosome mutations is increasingly recognized in human cancers.
Purpose of the Study:
- To review the connection between spliceosome mutations, aberrant splicing, and human cancers.
- To discuss the efficacy of spliceosome-targeted therapies (STTs) in treating cancers with splicing defects.
- To explore the interplay between the spliceosome and immune signaling, including immune dysregulation and splicing-independent functions.
Main Methods:
- Literature review of studies on spliceosome mutations, cancer, and immune signaling.
- Analysis of research linking aberrant splicing to cancer development and progression.
- Examination of recent findings on spliceosome gene mutations and their impact on immune function.
Main Results:
- Spliceosome mutations are frequently observed in various human cancers, leading to aberrant splicing.
- Spliceosome-targeted therapies (STTs) demonstrate significant efficacy in treating cancers characterized by splicing defects.
- Spliceosome gene mutations can cause immune dysregulation through mis-splicing of immune-related genes.
- Core spliceosome components possess splicing-independent immune functions.
Conclusions:
- The spliceosome plays a critical role in both cancer development and immune regulation.
- Targeting the spliceosome offers a promising therapeutic avenue for specific cancer types.
- Further research into the spliceosome's dual role in splicing and immunity is warranted.
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