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Related Concept Videos

Exon Recombination02:32

Exon Recombination

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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...
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Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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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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Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

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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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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Mar 26, 2026

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

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Exon Snipping in Duchenne Muscular Dystrophy.

Dwi U Kemaladewi1, Ronald D Cohn2

  • 1Genetics and Genome Biology Program, the Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Trends in Molecular Medicine
|February 10, 2016
PubMed
Summary

CRISPR/Cas9 gene editing offers new hope for Duchenne muscular dystrophy (DMD) by excising mutated exons to restore dystrophin production. However, careful consideration of safety and efficacy is crucial before clinical application.

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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting muscle function.
  • Mutations in the DMD gene lead to a lack of functional dystrophin protein.
  • Current treatments for DMD are limited in scope and efficacy.

Purpose of the Study:

  • To review recent advancements in CRISPR/Cas9 gene editing for Duchenne muscular dystrophy.
  • To highlight the potential of exon skipping using CRISPR/Cas9 technology.
  • To discuss the challenges and considerations for translating this technology into clinical practice.

Main Methods:

  • Review of recent scientific literature on CRISPR/Cas9 applications in DMD.
  • Analysis of studies employing CRISPR/Cas9 for exon skipping in the DMD gene.
  • Discussion of preclinical and potential clinical trial data.

Main Results:

  • CRISPR/Cas9 technology has shown promise in excising specific mutated exons within the DMD gene.
  • Exon skipping via CRISPR/Cas9 can restore the reading frame, potentially leading to dystrophin production.
  • Successful application in preclinical models has been demonstrated.

Conclusions:

  • CRISPR/Cas9-mediated exon skipping represents a promising therapeutic strategy for Duchenne muscular dystrophy.
  • Further research is essential to address safety concerns and optimize delivery methods.
  • Translating this gene-editing technology into safe and effective clinical treatments requires careful evaluation.