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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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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Repeat-associated RNA structure and aberrant splicing.

Melissa A Hale1, Nicholas E Johnson1, J Andrew Berglund2

  • 1Department of Neurology, Virginia Commonwealth University, Richmond, VA 23298, USA.

Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms
|July 20, 2019
PubMed
Summary

Hereditary repeat expansion diseases involve toxic RNA structures that sequester RNA binding proteins (RBPs). This leads to aberrant alternative splicing (AS), causing disease symptoms, particularly in myotonic dystrophy.

Keywords:
Alternative splicingMuscleblind-like (MBNL)Myotonic dystrophyRNA binding proteinsRNA structureRepeat expansion diseases

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Area of Science:

  • Molecular Biology
  • Genetics
  • RNA Biology

Background:

  • Over 30 hereditary disorders are linked to microsatellite repeat expansions.
  • Many of these diseases share pathogenic RNA gain-of-function mechanisms.
  • Expanded repeat RNAs form structures that aggregate into intracellular foci.

Purpose of the Study:

  • To review the association between repeat RNA structures, RNA binding proteins (RBPs), and aberrant alternative splicing (AS).
  • To highlight the role of these mechanisms in myotonic dystrophy.
  • To discuss implications for other repeat expansion diseases.

Main Methods:

  • Literature review of studies on RNA structure, RBP interactions, and alternative splicing.
  • Focus on myotonic dystrophy as a primary example.
  • Comparative analysis across various repeat expansion disorders.

Main Results:

  • Repeat-containing RNAs form structured foci that sequester critical RBPs.
  • Sequestration of RBPs disrupts normal RNA metabolism, especially alternative splicing.
  • Altered alternative splicing patterns are directly linked to disease pathogenesis.

Conclusions:

  • Toxic RNA structures and RBP sequestration are key drivers of repeat expansion diseases.
  • Dysregulation of alternative splicing is a common pathogenic mechanism.
  • Understanding these interactions is crucial for therapeutic strategies in myotonic dystrophy and other related disorders.