Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

12.0K
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,...
12.0K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

3.5K
3.5K
Nuclear Export of mRNA02:31

Nuclear Export of mRNA

9.0K
Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
9.0K
Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

8.3K
In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
8.3K
Pre-mRNA Processing: Modification of pre-mRNA Ends01:35

Pre-mRNA Processing: Modification of pre-mRNA Ends

16.0K
In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a cap to the 5' end of the growing transcript. In this process, a 5' phosphate is replaced by modified guanosine that has a methyl group attached (7-methyl guanosine). This 5' cap helps...
16.0K
RNA Editing02:23

RNA Editing

10.0K
RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
10.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Phenotype-specific muscle proteomic profiling in titinopathies.

Acta neuropathologica communications·2026
Same author

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

European journal of human genetics : EJHG·2026
Same author

Measuring the principle Hugoniot of low-density silica aerogel foam at pressures up to 160 GPa.

Physical review. E·2026
Same author

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

DNA methylation predicts lung function and pulmonary exacerbation in sputum samples from patients with cystic fibrosis.

Clinical epigenetics·2025
Same author

Probing ultrafast foam homogenization with grating-based X-ray dark-field imaging.

Scientific reports·2025

Related Experiment Video

Updated: Feb 28, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

1.3K

Normal and altered pre-mRNA processing in the DMD gene.

Sylvie Tuffery-Giraud1, Julie Miro2, Michel Koenig2,3

  • 1Laboratoire de Génétique de Maladies Rares (LGMR, EA7402), University of Montpellier, Institut Universitaire de Recherche Clinique (IURC), 641 av du Doyen G. Giraud, Montpellier, Cedex 5, 34093, France. sylvie.tuffery@inserm.fr.

Human Genetics
|June 10, 2017
PubMed
Summary

Splicing of the Duchenne muscular dystrophy (DMD) gene involves complex multi-step intron removal and temporary intron retention. Aberrant splicing mechanisms contribute to diverse splicing defects in DMD and Becker muscular dystrophy, influencing disease severity.

More Related Videos

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells
06:48

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells

Published on: June 16, 2022

2.4K
Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

19.3K

Related Experiment Videos

Last Updated: Feb 28, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

1.3K
A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells
06:48

A Reporter Assay to Analyze Intronic microRNA Maturation in Mammalian Cells

Published on: June 16, 2022

2.4K
Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

19.3K

Area of Science:

  • Molecular Biology
  • Genetics
  • Gene Expression Regulation

Background:

  • Pre-mRNA splicing is a critical gene expression step regulated by various mechanisms.
  • The Duchenne muscular dystrophy (DMD) gene, encoding dystrophin, exemplifies complex human pre-mRNA processing.
  • Understanding splicing in the DMD gene is vital for insights into muscular dystrophies.

Purpose of the Study:

  • To review canonical and non-canonical splicing mechanisms in the full-length DMD pre-mRNA isoform.
  • To highlight recent findings on multi-step intron removal and temporary intron retention in DMD.
  • To discuss the molecular mechanisms of splicing defects and the role of alternative splicing in DMD/BMD.

Main Methods:

  • Review of current literature on DMD pre-mRNA splicing.
  • Analysis of molecular mechanisms underlying splicing defects.
  • Discussion of alternative splicing's role as a disease modifier.

Main Results:

  • Long intron removal in DMD pre-mRNA requires multi-step events.
  • Temporary intron retention influences alternative splicing outcomes.
  • Diverse splicing defects, including point mutations and genomic rearrangements, are observed in the DMD gene.
  • Aberrant splicing mechanisms contribute to Duchenne and Becker muscular dystrophy.

Conclusions:

  • Splicing of the DMD gene is a complex process with significant implications for muscular dystrophy.
  • Alternative splicing can modify disease presentation and severity in patients.
  • Further research into DMD splicing mechanisms is crucial for therapeutic development.