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Updated: Aug 17, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Candidates for tumor-specific alternative splicing
Masayo Okumura1, Shinichi Kondo, Maiko Ogata
1Division of Structural Cellular Biology, The Graduate School of Biological Sciences, Nara Institute of Science and Technology (NAIST), 8916-5 Takayama, Ikoma, Nara 630-0101, Japan. masayo@bs.naist.jp
Abstract:
Gene expression can be regulated not only by transcription and post-transcriptional modifications, but also by splicing regulation. Recent genome-wide analyses have indicated that up to 70% of human genes may have alternatively spliced forms, suggesting that splicing regulation affects a wide range of gene expression. Tumor tissues show significantly altered protein expressions, and this is also thought to be affected by alternative splicing. Although some alternative splicing events have been reported to be cancer specific and others have been predicted from database analyses, the process of alternative splicing and its regulatory machinery are hardly understood. We searched for and detected alternative splicing events that alter protein splicing in all or a subset of tumor tissues. The results revealed tissue-specific alterations of splicing regulation by tumorigenesis, and regulatory cis-element analyses further suggested that multiple splicing regulatory machineries were affected by this process.
Insights
Alternative splicing significantly impacts gene expression and protein diversity. This study reveals tissue-specific alterations in splicing regulation during tumorigenesis, highlighting its role in cancer.
Area of Science:
- Molecular Biology
- Genetics
- Cancer Research
Background:
- Gene expression is regulated by transcription, post-transcriptional modifications, and splicing.
- Alternative splicing affects up to 70% of human genes, influencing protein diversity.
- Tumorigenesis is associated with altered protein expression, potentially due to alternative splicing.
Purpose of the Study:
- To investigate alternative splicing events that modify proteins in tumor tissues.
- To understand the impact of tumorigenesis on splicing regulation.
- To identify affected splicing regulatory machineries.
Main Methods:
- Genome-wide analyses of gene expression.
- Detection of alternative splicing events in tumor tissues.
- Analysis of regulatory cis-elements.
Main Results:
- Identified tissue-specific alterations in splicing regulation linked to tumorigenesis.
- Demonstrated that alternative splicing affects protein structure in tumors.
- Regulatory cis-element analysis indicated involvement of multiple splicing regulatory machineries.
Conclusions:
- Tumorigenesis induces significant, tissue-specific changes in alternative splicing.
- Alternative splicing plays a crucial role in cancer development and progression.
- Understanding these splicing alterations can reveal novel therapeutic targets.
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