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Related Concept Videos

RNA Splicing01:32

RNA Splicing

53.3K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: RNA Splicing

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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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Related Experiment Video

Updated: May 3, 2026

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

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Splicing factor mutations and cancer.

Kenichi Yoshida1, Seishi Ogawa

  • 1Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Wiley Interdisciplinary Reviews. RNA
|February 14, 2014
PubMed
Summary

Somatic mutations in splicing factor genes are common in blood and solid cancers. These mutations impact RNA splicing and may offer new therapeutic targets for cancer treatment.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • High-throughput sequencing reveals frequent somatic mutations in splicing factor genes across various cancers.
  • These mutations are observed in hematological malignancies (e.g., myelodysplastic syndromes, chronic lymphocytic leukemia) and solid tumors (e.g., breast, pancreatic, lung cancers).
  • Key affected genes include U2AF1, SRSF2, SF3B1, and ZRSR2, all crucial for RNA splicing initiation.

Purpose of the Study:

  • To review the occurrence of splicing factor gene mutations in diverse cancer types.
  • To explore the functional and biological consequences of these mutations.
  • To assess the potential of targeting splicing factor mutations therapeutically.

Main Methods:

  • Literature review of studies reporting splicing factor mutations in cancer.

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  • Analysis of mutation patterns, including heterozygosity and mutual exclusivity.
  • Examination of reported functional and biological effects of these mutations.

    • Main Results:

    • Splicing factor gene mutations are prevalent and mutually exclusive in multiple cancer types.
    • Mutations primarily affect genes involved in 3' splice-site recognition.
    • These mutations suggest a unified mechanism impacting RNA splicing across different cancers.

    Conclusions:

    • Splicing factor mutations represent a significant molecular alteration in cancer development.
    • Understanding their functional impact is crucial for cancer research.
    • These mutations present potential novel therapeutic targets for personalized cancer therapy.