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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
Alternative RNA Splicing02:18

Alternative RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: RNA Splicing

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...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...

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Updated: May 17, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Splicing factor mutations in myelodysplasia.

Seishi Ogawa1

  • 1Cancer Genomics Project, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. sogawa-tky@umin.ac.jp

International Journal of Hematology
|October 12, 2012
PubMed
Summary

Mutations in RNA splicing machinery are common in myelodysplastic syndromes (MDS) and related disorders. These specific mutations may help explain the unique development of MDS, distinguishing it from acute myeloid leukemia (AML).

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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Area of Science:

  • Hematology
  • Molecular Biology
  • Oncology

Background:

  • Myelodysplastic syndromes (MDS) are a diverse group of myeloid neoplasms.
  • MDS frequently progress to acute myeloid leukemia (AML).
  • Understanding MDS-specific pathogenesis is challenging due to overlapping mutations with AML.

Purpose of the Study:

  • To investigate the role of RNA splicing machinery mutations in MDS pathogenesis.
  • To identify molecular features that distinguish MDS from AML.

Main Methods:

  • Analysis of gene mutations in patients with MDS and related myeloid neoplasms.
  • Comparison of mutation spectrum in MDS versus AML.

Main Results:

  • Frequent mutations identified in multiple components of the RNA splicing machinery in MDS.
  • These splicing factor mutations appear largely specific to myelodysplastic phenotypes.

Conclusions:

  • Splicing factor mutations offer a potential key to understanding MDS-specific pathogenesis.
  • These findings may help differentiate MDS from AML.