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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
Published on: April 26, 2017
Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes
A Sveen1,2,3, S Kilpinen4, A Ruusulehto4
1Department of Molecular Oncology, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Abstract:
Alternative splicing is a widespread process contributing to structural transcript variation and proteome diversity. In cancer, the splicing process is commonly disrupted, resulting in both functional and non-functional end-products. Cancer-specific splicing events are known to contribute to disease progression; however, the dysregulated splicing patterns found on a genome-wide scale have until recently been less well-studied. In this review, we provide an overview of aberrant RNA splicing and its regulation in cancer. We then focus on the executors of the splicing process. Based on a comprehensive catalog of splicing factor encoding genes and analyses of available gene expression and somatic mutation data, we identify cancer-associated patterns of dysregulation. Splicing factor genes are shown to be significantly differentially expressed between cancer and corresponding normal samples, and to have reduced inter-individual expression variation in cancer. Furthermore, we identify enrichment of predicted cancer-critical genes among the splicing factors. In addition to previously described oncogenic splicing factor genes, we propose 24 novel cancer-critical splicing factors predicted from somatic mutations.
Insights
Alternative splicing disruptions are common in cancer, impacting disease progression. This review identifies novel cancer-critical splicing factors and highlights widespread dysregulation of splicing processes in tumors.
Area of Science:
- Molecular Biology
- Cancer Biology
- Genomics
Background:
- Alternative splicing generates transcript and proteome diversity.
- Splicing dysregulation is a hallmark of cancer, contributing to disease progression.
- Genome-wide splicing patterns in cancer are increasingly recognized as critical.
Purpose of the Study:
- To review aberrant RNA splicing and its regulation in cancer.
- To identify cancer-associated splicing factor dysregulation patterns.
- To discover novel cancer-critical splicing factors.
Main Methods:
- Comprehensive cataloging of splicing factor encoding genes.
- Analysis of gene expression and somatic mutation data.
- Identification of differential expression and mutation enrichment in splicing factors.
Main Results:
- Splicing factor genes show significant differential expression between cancer and normal tissues.
- Reduced inter-individual expression variation of splicing factors in cancer.
- Enrichment of predicted cancer-critical genes among splicing factors, including 24 novel candidates.
Conclusions:
- Splicing factor dysregulation is a significant feature of cancer.
- Novel splicing factors implicated in cancer progression have been identified.
- Understanding splicing factor roles is crucial for cancer research and therapy.
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