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Related Concept Videos

RNA Splicing01:32

RNA Splicing

56.2K
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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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.
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...
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What is Gene Expression?01:36

What is Gene Expression?

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Gene expression and alternative splicing analysis in a large-scale Multiple Sclerosis study.

Müge Sak1,2, Julia H Chariker1,2, Juw Won Park1,3,4,5

  • 1Kentucky IDeA Network of Biomedical Research Excellence Bioinformatics Core, University of Louisville, Louisville, Kentucky 40202, United States of America.

Medrxiv : the Preprint Server for Health Sciences
|August 26, 2024
PubMed
Summary

This study analyzed gene expression in Multiple Sclerosis (MS) tissues, revealing novel molecular pathways and splicing events. These findings offer potential new drug targets for treating MS and improving patient outcomes.

Keywords:
RNA-Seqalternative splicingdifferential expressionmultiple sclerosis

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Area of Science:

  • Neuroscience
  • Immunology
  • Genetics

Background:

  • Multiple Sclerosis (MS) is a global autoimmune neurodegenerative disease impacting millions.
  • Current understanding of MS development and progression remains incomplete.
  • Identifying molecular mechanisms is key for diagnosis, biomarkers, and therapeutics.

Purpose of the Study:

  • To investigate molecular mechanisms underlying Multiple Sclerosis (MS).
  • To identify potential biomarkers for early diagnosis of MS.
  • To reveal novel therapeutic targets for MS treatment.

Main Methods:

  • Utilized publicly available RNA-sequencing data (GSE138614) from post-mortem white matter tissues.
  • Compared tissues from healthy donors and MS patients.
  • Analyzed differential gene expression, alternative splicing, and single nucleotide variants.

Main Results:

  • Identified differentially expressed genes in adaptive immune response, cell communication, and development.
  • Found alternatively spliced transcripts in genes crucial for neurogenesis and myelination (e.g., BCAS1, DLG1, QKI, MBP).
  • Detected differential expression in IgH and IgK gene subfamilies and identified splicing events in genes relevant to autoimmunity and neurodegeneration (e.g., MARCHF1, UGT8).

Conclusions:

  • Identified unique genes and pathways implicated in MS progression.
  • Discovered novel splicing events that may influence disease course.
  • These findings highlight potential novel drug targets for MS therapy.