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Alternative RNA Splicing02:18

Alternative RNA Splicing

21.6K
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...
21.6K
RNA Splicing01:32

RNA Splicing

56.6K
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...
56.6K
Exon Recombination02:32

Exon Recombination

3.7K
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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RNA Editing02:23

RNA Editing

9.1K
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...
9.1K
Translation01:31

Translation

15.1K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Pre-mRNA Processing: RNA Splicing01:36

Pre-mRNA Processing: RNA Splicing

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Related Experiment Video

Updated: Aug 18, 2025

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

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Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

Franziska Alfen1, Elena Putscher2, Michael Hecker2

  • 1Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, 18147 Rostock, Germany.

International Journal of Molecular Sciences
|December 11, 2022
PubMed
Summary

Fabry disease (FD) is caused by GLA gene mutations. This study reveals that some exonic mutations disrupt normal RNA splicing, impacting enzyme activity and potential treatments.

Keywords:
alternative splicingexon skippingintron inclusionmissense mutationpharmacological chaperoneα-galactosidase A

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Fabry disease (FD) is a rare X-linked disorder caused by mutations in the GLA gene, leading to deficient lysosomal α-galactosidase A (AGAL) activity.
  • This deficiency results in the accumulation of glycosphingolipids, causing progressive multisystemic complications.
  • While missense mutations often cause protein-level defects, mutations at exon-intron boundaries can affect RNA splicing.

Purpose of the Study:

  • To investigate the impact of specific exonic GLA gene mutations on RNA splicing.
  • To experimentally validate predicted splicing alterations using a minigene reporter assay.
  • To assess the implications of splicing defects for enzyme activity and therapeutic strategies.

Main Methods:

  • Utilized the Human Splicing Finder (HSF) tool to predict splicing alterations.
  • Employed a minigene reporter assay to experimentally verify splicing events for GLA mutations.
  • Analyzed specific exonic mutations (c.194G>T, c.358C>G, c.548G>T, c.638A>T) for their effects on splicing.

Main Results:

  • HSF predicted significant splicing changes for several FD-associated GLA mutations.
  • Experimental validation confirmed alternative splice site usage for c.194G>T and c.358C>G mutations.
  • Exon 4 skipping was observed for the c.548G>T and c.638A>T mutations, indicating aberrant splicing.

Conclusions:

  • Exonic GLA mutations can lead to abnormal pre-mRNA processing and alternative splicing.
  • Splicing phenotype analysis is crucial for in vitro characterization of exonic GLA mutations.
  • Splicing defects may reduce AGAL activity and affect treatment responsiveness to pharmacological chaperones (PCs).