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Updated: Jun 29, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
The emerging role of splicing factors in cancer
Ana Rita Grosso1, Sandra Martins, Maria Carmo-Fonseca
1Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, 1649-028 Lisboa, Portugal.
Abstract:
Recent progress in global sequence and microarray data analysis has revealed the increasing complexity of the human transcriptome. Alternative splicing generates a huge diversity of transcript variants and disruption of splicing regulatory networks is emerging as an important contributor to various diseases, including cancer. Current efforts to establish the dynamic repertoire of transcripts that are generated in health and disease are showing that many cancer-associated alternative-splicing events occur in the absence of mutations in the affected genes. A growing body of evidence reveals changes in splicing-factor expression that correlate with cancer development, progression and response to therapy. Here, we discuss how recent links between cancer and altered expression of proteins implicated in splicing regulation are bringing the splicing machinery to the fore as a potential target for anticancer treatment.
Insights
Alternative splicing, a key process in gene expression, is increasingly linked to cancer. Altered splicing factor expression, not gene mutations, drives many cancer-associated splicing events, suggesting new therapeutic targets.
Area of Science:
- Genomics
- Molecular Biology
- Cancer Research
Background:
- The human transcriptome is complex, with alternative splicing generating diverse transcript variants.
- Disruptions in splicing regulatory networks are increasingly recognized as contributors to diseases like cancer.
- Many cancer-associated alternative splicing events occur without mutations in the affected genes.
Purpose of the Study:
- To review the emerging role of alternative splicing in cancer.
- To highlight the connection between altered splicing factor expression and cancer development, progression, and therapy response.
- To discuss the potential of targeting the splicing machinery for anticancer treatments.
Main Methods:
- Analysis of global sequence and microarray data.
- Review of current literature on alternative splicing and cancer.
- Correlation studies on splicing factor expression in cancer.
Main Results:
- Alternative splicing significantly increases transcriptome complexity.
- Changes in splicing factor expression are linked to cancer development and progression.
- Cancer-associated splicing alterations are often independent of gene mutations.
Conclusions:
- The splicing machinery is a critical factor in cancer biology.
- Altered expression of splicing regulatory proteins is a hallmark of cancer.
- Targeting splicing regulation presents a promising avenue for novel anticancer therapies.
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