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

RNA Splicing01:32

RNA Splicing

56.5K
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...
56.5K
Alternative RNA Splicing02:18

Alternative RNA Splicing

21.5K
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...
21.5K

You might also read

Related Articles

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

Sort by
Same author

The alternative androgen receptor isoform A mitigates toxicity of polyglutamine-elongated mutant androgen receptor in spinal and bulbar muscular atrophy.

Journal of advanced research·2026
Same author

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

American journal of human genetics·2025
Same author

Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs.

Nucleic acids research·2025
Same author

Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.

Neurology·2024
Same author

Proteasome-mediated degradation of long-range nucleases negatively regulates resection of DNA double-strand breaks.

iScience·2024
Same author

Protein biomarker signature in patients with spinal and bulbar muscular atrophy.

JCI insight·2024

Related Experiment Video

Updated: Jul 30, 2025

In Vitro Differentiation of Mature Myofibers for Live Imaging
08:12

In Vitro Differentiation of Mature Myofibers for Live Imaging

Published on: January 7, 2017

10.4K

RNA Transcript Diversity in Neuromuscular Research.

Wooi Fang Lim1, Carlo Rinaldi1,2

  • 1Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.

Journal of Neuromuscular Diseases
|May 14, 2023
PubMed
Summary

Alternative splicing generates diverse human transcripts, crucial for development. Misregulation of this process contributes to neuromuscular diseases, prompting new therapeutic strategies.

Keywords:
Alternative splicingisoformsplicing modulation

More Related Videos

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.9K
The Fibular Nerve Injury Method: A Reliable Assay to Identify and Test Factors That Repair Neuromuscular Junctions
06:01

The Fibular Nerve Injury Method: A Reliable Assay to Identify and Test Factors That Repair Neuromuscular Junctions

Published on: August 11, 2016

15.9K

Related Experiment Videos

Last Updated: Jul 30, 2025

In Vitro Differentiation of Mature Myofibers for Live Imaging
08:12

In Vitro Differentiation of Mature Myofibers for Live Imaging

Published on: January 7, 2017

10.4K
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

8.9K
The Fibular Nerve Injury Method: A Reliable Assay to Identify and Test Factors That Repair Neuromuscular Junctions
06:01

The Fibular Nerve Injury Method: A Reliable Assay to Identify and Test Factors That Repair Neuromuscular Junctions

Published on: August 11, 2016

15.9K

Area of Science:

  • Genomics
  • Molecular Biology
  • Neuroscience

Background:

  • The human genome contains over 25,000 protein-coding genes, with most being multi-exonic.
  • Alternative splicing creates transcriptome and proteome diversity, vital for tissue-specific functions.
  • Splicing regulation is critical, especially in the central nervous system and skeletal muscle.

Approach:

  • This review examines transcript diversity in neuromuscular diseases.
  • It discusses current therapeutic strategies targeting splicing mis-regulation.
  • Focuses on diseases like ALS, SMA, DMD, DM1, and DM2.

Key Points:

  • Alternative splicing variations (exon skipping, intron retention, etc.) drive biological complexity.
  • Dysregulated splicing is a key factor in numerous neuromuscular disorders.
  • Transcript diversity is now a critical consideration in drug development.

Conclusions:

  • Understanding alternative splicing is essential for comprehending neuromuscular disease pathogenesis.
  • Targeting splicing defects offers promising therapeutic avenues for these debilitating conditions.