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Updated: May 25, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
[Disturbances of alternative splicing in cancer]
Hanna Wiszomirska1, Agnieszka Piekiełko-Witkowska, Alicja Nauman
1Zakład Biochemii i Biologii Molekularnej, Centrum Medyczne Kształcenia Podyplomowego, Warszawa.
Abstract:
Splicing of pre-mRNA is one of the post-transcriptional modifications in which introns are removed from primary transcript and exons are joined. pre-mRNA splicing reactions are catalyzed by dynamic complex called spliceosome. Exons can be joined on different manners in a process known as alternative splicing, that provide production of multiple mRNA and protein isoforms from relatively low number of genes. Alternative splicing is regulated by cis elements localized within exons or introns and trans-acting factors including spliceosome components and members of the SR and hnRNP protein family that exert antagonistic effects on splicing. Aberrant pre-mRNA splicing may be caused by mutations in cis elements and altered expression of splicing factors. This review describes disturbances in splicing of genes controlling proliferation and metastasis that can lead to tumoral transformation. Also, potential applications of abnormally spliced transcripts that may potentially serve as diagnostic biomarkers of cancer or targets in anticancer therapy are discussed.
Insights
Alternative splicing, a key RNA modification, can lead to cancer when dysregulated. Aberrant splicing may offer new diagnostic biomarkers and therapeutic targets for cancer treatment.
Area of Science:
- Molecular Biology
- Genetics
- Cancer Research
Context:
- Pre-messenger RNA (pre-mRNA) splicing is a crucial post-transcriptional modification.
- The spliceosome complex catalyzes pre-mRNA splicing, enabling the removal of introns and joining of exons.
- Alternative splicing allows for the generation of diverse messenger RNA (mRNA) and protein isoforms from a single gene.
Purpose:
- To review the role of splicing disturbances in genes controlling proliferation and metastasis in tumoral transformation.
- To discuss the potential of abnormally spliced transcripts as diagnostic biomarkers for cancer.
- To explore the therapeutic applications of targeting aberrant splicing in anticancer strategies.
Summary:
- Alternative splicing is regulated by cis-acting elements and trans-acting factors, including SR and hnRNP proteins.
- Mutations in cis elements or altered expression of splicing factors can lead to aberrant pre-mRNA splicing.
- Dysregulation of splicing in proliferation and metastasis-controlling genes contributes to cancer development.
Impact:
- Abnormally spliced transcripts may serve as novel diagnostic biomarkers for early cancer detection.
- Targeting aberrant splicing pathways presents a promising avenue for developing innovative anticancer therapies.
- Understanding splicing alterations provides insights into cancer progression and potential vulnerabilities.
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