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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

24.7K
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...
24.7K
RNA Splicing01:32

RNA Splicing

60.4K
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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Related Experiment Video

Updated: Jan 18, 2026

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
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Systematic Analysis of Alternative Splicing in Transcriptomes of Multiple Sclerosis Patient Brain Samples.

Müge Sak1, Julia H Chariker1, Eric C Rouchka2

  • 1Kentucky IDeA Networks of Biomedical Research Excellence Data Science Core, Department of Neuroscience Training, University of Louisville, Louisville, KY 40292, USA.

International Journal of Molecular Sciences
|September 13, 2025
PubMed
Summary

Alternative splicing, a key process in gene expression, plays a critical role in multiple sclerosis (MS) progression. Our study reveals distinct molecular differences driven by alternative splicing in MS, offering new insights into this complex neurological disease.

Keywords:
RNA-seqalternative splicingdifferential expressionmultiple sclerosis

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Area of Science:

  • Neuroscience
  • Genomics
  • Molecular Biology

Background:

  • Multiple sclerosis (MS) is a significant autoimmune and neurodegenerative disease impacting around 1 million individuals in the U.S.
  • The precise biological changes and varied symptoms in MS progression remain incompletely understood.
  • Bulk RNA sequencing (RNA-seq) data, while abundant, is often limited to differential gene expression analysis, overlooking alternative splicing.

Purpose of the Study:

  • To investigate the role of alternative splicing in multiple sclerosis using existing bulk RNA-seq data.
  • To identify alternatively spliced genes in postmortem brain samples from MS patients.
  • To compare the biological signals from alternative splicing with those from differential gene expression in MS.

Main Methods:

  • Utilized bulk RNA-seq data from 11 studies of postmortem MS brain samples obtained from the Gene Expression Omnibus (GEO).
  • Employed replicate multivariate analysis of transcript splicing (rMATS) to identify exclusively alternatively spliced genes.
  • Conducted gene ontology and protein domain analyses on alternatively spliced genes.

Main Results:

  • Alternative splicing generates distinct biological signals in MS, separate from differential gene expression.
  • Identified unique molecular differences between progressive and relapsing-remitting MS subtypes based on alternative splicing.
  • Observed variations in alternative splicing patterns across different brain regions, white matter, and gray matter lesions.

Conclusions:

  • Alternative splicing is a critical mediator of biological signals in multiple sclerosis.
  • Alternative splicing pathways contribute significantly to the development and progression of MS.
  • Understanding alternative splicing provides deeper insights into MS pathophysiology and patient heterogeneity.