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Related Concept Videos

RNA Splicing01:32

RNA Splicing

56.4K
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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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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Exon Recombination02:32

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. 
Exon shuffling follows “splice frame rules.” Each exon...
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Long-patch Base Excision Repair01:02

Long-patch Base Excision Repair

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Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
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Related Experiment Video

Updated: Jul 9, 2025

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
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Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

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Aberrant splicing exonizes C9ORF72 repeat expansion in ALS/FTD.

Suzhou Yang1,2, Denethi Wijegunawardana1,2, Udit Sheth3,4

  • 1Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA.

Biorxiv : the Preprint Server for Biology
|November 28, 2023
PubMed
Summary

The C9ORF72 gene's nucleotide repeat expansion (NRE) causes ALS and FTD. This study reveals NREs trigger aberrant splicing, affecting RNA export and translation, offering new insights into these neurodegenerative diseases.

Keywords:
ALS/FTDC9ORF72cryptic splice sitemRNA splicingnucleotide repeat expansion

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • The C9ORF72 gene nucleotide repeat expansion (NRE) is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • The mechanism by which intronic NREs influence cytoplasmic translation machinery remains poorly understood.

Conclusions:

  • Repeat-induced aberrant splicing plays a critical role in the biogenesis, nuclear export, and translation of NRE-containing RNAs.
  • Aberrant splicing is a key mechanism linking C9ORF72 NREs to ALS and FTD pathogenesis.