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Related Concept Videos

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Exon Recombination

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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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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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Lesson: Translation
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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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Related Experiment Video

Updated: Aug 6, 2025

Evaluation of LC3-II Release via Extracellular Vesicles in Relation to the Accumulation of Intracellular LC3-positive Vesicles
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The era of cryptic exons: implications for ALS-FTD.

Puja R Mehta1, Anna-Leigh Brown1, Michael E Ward2

  • 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL Queen Square Motor Neuron Disease Centre, London, WC1N 3BG, UK.

Molecular Neurodegeneration
|March 16, 2023
PubMed
Summary

Aberrant splicing due to cryptic exons in TDP-43 proteinopathies offers new hope. These findings pave the way for novel diagnostics and therapeutics for neurodegenerative diseases.

Keywords:
Amyotrophic lateral sclerosisBiomarkersCryptic exonsFrontotemporal dementiaMotor neuron diseaseSTMN2SplicingTDP-43 proteinopathiesTherapeuticsUNC13A

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • TDP-43 proteinopathy affects the brain in neurodegenerative diseases like ALS, FTD, and Alzheimer's.
  • Currently, no targeted therapies exist for TDP-43 proteinopathies, and early diagnosis is challenging.

Purpose of the Study:

  • To investigate the role of cryptic exons in TDP-43 proteinopathies.
  • To explore cryptic exons as potential therapeutic targets and diagnostic biomarkers.

Main Methods:

  • Analysis of molecular changes associated with TDP-43 mislocalization.
  • Identification and characterization of cryptic exons in affected brain regions.

Main Results:

  • TDP-43 proteinopathy causes de-repression and inclusion of cryptic exons.
  • Some cryptic exons lead to loss of essential neuronal proteins (e.g., STMN2) and influence disease progression (e.g., UNC13A).
  • Cryptic exons are specific to affected patients and brain areas.

Conclusions:

  • Aberrant splicing events involving cryptic exons are key pathogenic players in TDP-43 proteinopathies.
  • Cryptic exons represent promising targets for developing disease-modifying therapies.
  • The specificity of cryptic exons suggests potential for novel diagnostic biomarkers for early detection and patient stratification.