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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...
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...
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...
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

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Antisense-mediated exon inclusion.

Yimin Hua1, Adrian R Krainer

  • 1Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.

Methods in Molecular Biology (Clifton, N.J.)
|March 29, 2012
PubMed
Summary
This summary is machine-generated.

Antisense oligonucleotides (ASOs) offer a promising therapeutic strategy for genetic diseases caused by exon skipping. These ASOs effectively correct aberrant splicing, restoring normal gene function and showing potential for treating Spinal Muscular Atrophy (SMA).

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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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Last Updated: May 23, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
07:31

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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

Area of Science:

  • Molecular Biology
  • Genetics
  • Drug Discovery

Background:

  • Gene mutations causing exon skipping are a primary driver of many genetic diseases.
  • Aberrant pre-mRNA splicing requires targeted correction for therapeutic intervention.

Purpose of the Study:

  • To investigate the efficacy of antisense oligonucleotides (ASOs) in correcting aberrant gene splicing.
  • To evaluate ASOs as a potential therapeutic strategy for genetic disorders like Spinal Muscular Atrophy (SMA).

Main Methods:

  • Utilized 2'-O-(2-methoxyethyl) (MOE) phosphorothioate-modified ASOs.
  • Tested ASO efficacy in cell-free splicing assays, cultured human cells (including patient fibroblasts), and SMA mouse models (peripheral tissues and CNS).

Main Results:

  • ASOs successfully corrected survival motor neuron 2 (SMN2) exon 7 splicing.
  • Demonstrated efficient exon inclusion restoration in various experimental models.

Conclusions:

  • ASOs are effective in correcting disease-related aberrant splicing.
  • The developed ASOs represent promising drug leads for SMA therapy.