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Related Concept Videos

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...
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...
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...
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...

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Related Experiment Video

Updated: May 23, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Antisense-mediated exon skipping to reframe transcripts.

Sandrina Turczynski1, Matthias Titeux, Nathalie Pironon

  • 1INSERM, U781, Paris, France.

Methods in Molecular Biology (Clifton, N.J.)
|March 29, 2012
PubMed
Summary

Antisense-based splicing modulation can restore gene function in genetic disorders. This study demonstrates its efficacy in treating recessive dystrophic epidermolysis bullosa by correcting COL7A1 gene transcripts.

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Last Updated: May 23, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Area of Science:

  • Genetics
  • Molecular Biology
  • Biotechnology

Background:

  • Genetic disorders often result from loss-of-function mutations disrupting gene open reading frames.
  • Nonsense-mediated mRNA decay or truncated protein degradation typically prevents functional protein synthesis.

Purpose of the Study:

  • To develop and demonstrate the feasibility of antisense-based splicing modulation for treating genetic disorders.
  • To restore the open reading frame (ORF) and enable functional protein synthesis.

Main Methods:

  • Utilized antisense-based splicing modulation to selectively remove mutated exons.
  • Applied the strategy to the COL7A1 gene, encoding type VII collagen, for recessive dystrophic epidermolysis bullosa.
  • Leveraged the unique genomic structure of COL7A1 (118 exons, 83 in-frame) for exon-skipping.

Main Results:

  • Demonstrated the feasibility and efficacy of antisense-mediated exon-skipping.
  • Showcased the potential to reframe transcripts and restore protein synthesis.
  • Successfully applied the method to a severe genetic skin disorder.

Conclusions:

  • Antisense-based splicing modulation is a promising therapeutic strategy for genetic disorders.
  • Exon-skipping offers a viable approach to correct mutations and restore protein function.
  • The COL7A1 gene serves as a relevant model for this therapeutic strategy.