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Related Concept Videos

RNA Splicing01:32

RNA Splicing

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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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Cancers Originate from Somatic Mutations in a Single Cell02:21

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Abnormal Proliferation02:23

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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Updated: Jul 15, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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[Hematological malignancies driven by aberrant splicing].

Weijia Zang1,2, Wataru Saika1,3, Yumi Aoyama1,2

  • 1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|October 4, 2023
PubMed
Summary

RNA splicing is crucial for gene expression, but its dysregulation drives blood cancers like myelodysplastic syndrome and acute myeloid leukemia. This review explores splicing factor mutations in cancer and potential therapies.

Keywords:
Minor intronPre-mRNA splicingSF3B1ZRSR2

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Area of Science:

  • Molecular Biology
  • Genetics
  • Oncology

Background:

  • RNA splicing is essential for converting pre-mRNA to mature mRNA, regulating gene expression.
  • Aberrant RNA splicing is linked to hematopoietic malignancies, including myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
  • Splicing factor mutations are increasingly recognized as drivers of these hematologic cancers.

Approach:

  • This review synthesizes recent clinical and mouse model analyses.
  • It examines the mechanisms by which splicing factor mutations contribute to disease development.
  • The focus is on understanding the functional consequences of these mutations in cancer.

Key Points:

  • Mutations in splicing factors impact diverse cellular pathways, including chromatin regulation, transcription, proliferation, and inflammation.
  • Despite progress, the precise relationship between aberrant splicing and cancer pathogenesis requires further elucidation.
  • Understanding these mechanisms is crucial for developing targeted therapies.

Conclusions:

  • Splicing factor mutations are key drivers in MDS and AML pathogenesis.
  • Further research into aberrant splicing mechanisms can reveal novel therapeutic targets.
  • Mechanism-based therapeutic strategies hold promise for treating splicing-driven hematologic malignancies.