Related Experiment Video
Updated: Mar 12, 2026
Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Aberrant Splicing in Cancer: Mediators of Malignant Progression through an Imperfect Splice Program Shift
Felipe Andrés Cordero Luz1, Paula Cristina Brígido, Alberto Silva Moraes
1Laboratório de Osteoimunologia e Imunologia dos Tumores, Instituto de Ciências Biomédicas (ICBIM), Universidade Federal de Uberlândia (UFU), Uberlândia, Brazil.
Abstract:
Although the efforts to understand the genetic basis of cancer allowed advances in diagnosis and therapy, little is known about other molecular bases. Splicing is a key event in gene expression, controlling the excision of introns decoded inside genes and being responsible for 80% of the proteome amplification through events of alternative splicing. Growing data from the last decade point to deregulation of splicing events as crucial in carcinogenesis and tumor progression. Several alterations in splicing events were observed in cancer, caused by either missexpression of or detrimental mutations in some splicing factors, and appear to be critical in carcinogenesis and key events during tumor progression. Notwithstanding, it is difficult to determine whether it is a cause or consequence of cancer and/or tumorigenesis. Most reviews focus on the generated isoforms of deregulated splicing pattern, while others mainly summarize deregulated splicing factors observed in cancer. In this review, events associated with carcinogenesis and tumor progression mainly, and epithelial-to-mesenchymal transition, which is also implicated in alternative splicing regulation, will be progressively discussed in the light of a new perspective, suggesting that splicing deregulation mediates cell reprogramming in tumor progression by an imperfect shift of the splice program.
Insights
Alternative splicing deregulation is increasingly recognized as vital in cancer development and progression. This review explores how altered splicing contributes to tumor cell reprogramming and epithelial-to-mesenchymal transition.
Area of Science:
- Molecular Biology
- Genetics
- Cancer Research
Background:
- Genetic mutations are well-studied in cancer, but other molecular bases like alternative splicing are less understood.
- Alternative splicing significantly amplifies the proteome and is crucial for gene expression regulation.
- Recent research highlights the critical role of splicing deregulation in carcinogenesis and tumor progression.
Purpose of the Study:
- To review the role of alternative splicing deregulation in cancer.
- To discuss the link between splicing alterations, carcinogenesis, and tumor progression.
- To explore the connection between alternative splicing and epithelial-to-mesenchymal transition in cancer.
Main Methods:
- Literature review focusing on splicing deregulation in cancer.
- Analysis of studies linking splicing factors and cancer progression.
- Discussion of alternative splicing's role in epithelial-to-mesenchymal transition.
Main Results:
- Splicing alterations, including misexpression or mutations in splicing factors, are frequently observed in cancer.
- Splicing deregulation is implicated in key events of tumor progression and carcinogenesis.
- Alternative splicing regulation is intertwined with epithelial-to-mesenchymal transition.
Conclusions:
- Splicing deregulation is a significant factor in cancer development and progression.
- Altered splicing may mediate cell reprogramming during tumor progression.
- Further research is needed to clarify whether splicing changes are a cause or consequence of cancer.
Related Concept Videos
01:32RNA Splicing
01:32RNA Splicing
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:18Alternative RNA Splicing
01:36Pre-mRNA Processing: RNA Splicing
01:20Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...