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Related Concept Videos

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.
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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...
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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. 
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Related Experiment Video

Updated: Jun 13, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Alternative Splicing and CaV-Associated Channelopathies.

Willy Munyao1, Md Mostafizur Rahman1, Samuel A Sabzanov1

  • 1Laboratory of RNA Biology and Molecular Neuroscience, Department of Biological Sciences, St. John's University, Queens, New York, USA.

Wiley Interdisciplinary Reviews. RNA
|June 10, 2025
PubMed
Summary

Voltage-gated calcium channels (VGCCs) regulate physiology, but their dysfunction causes disease. Targeting alternative splicing of VGCCs offers a new therapeutic strategy for channelopathies and neurodevelopmental disorders.

Keywords:
alternative splicingcalcium channeldiseaseion channeltherapy

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Area of Science:

  • Molecular biology
  • Neuroscience
  • Ion channel research

Background:

  • Voltage-gated calcium channels (VGCCs) are crucial for physiological processes.
  • Dysfunctional VGCCs are linked to neurological, cardiac, psychiatric, endocrine, oncogenic, and muscular disorders.
  • Alternative splicing of VGCC genes generates diverse cell-specific variants.

Purpose of the Study:

  • To highlight the role of alternative splicing in VGCC function and pathology.
  • To explore the therapeutic potential of targeting VGCC alternative splicing.

Main Methods:

  • Analysis of VGCC gene expression and alternative splicing patterns.
  • Investigating the impact of splicing factors on CaV variant generation.
  • Reviewing genetic mutations affecting splicing in channelopathies.

Main Results:

  • All 10 VGCC α1-subunit genes undergo alternative splicing, creating diverse CaV variants.
  • Splicing factors tightly regulate the cell-specific expression of these variants.
  • Aberrant splicing due to mutations in cis-acting elements or splicing machinery causes channelopathies.

Conclusions:

  • Alternative splicing is critical for VGCC diversity and function.
  • Targeting disease-associated splicing events is a promising therapeutic approach for channelopathies and neurodevelopmental disorders.