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Related Concept Videos

RNA Splicing01:32

RNA Splicing

57.0K
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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Updated: Sep 11, 2025

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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, USA.

Nature Neuroscience
|August 12, 2025
PubMed
Summary
This summary is machine-generated.

A common genetic mutation in the C9orf72 gene causes ALS and FTD by producing toxic proteins. Aberrant splicing retains the repeat in RNA, enabling toxic protein production, offering new therapeutic targets.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • A GGGGCC nucleotide repeat expansion (NRE) in the C9orf72 gene is a leading cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • The mechanism by which intronic NREs lead to toxic dipeptide repeat (DPR) protein production in the cytoplasm is not fully understood.

Purpose of the Study:

  • To elucidate the mechanism of C9 NRE RNA localization and DPR protein production.
  • To identify potential therapeutic targets for C9-ALS/FTD.

Main Methods:

  • NRE-capture-seq was employed to profile NRE-containing RNAs in patient-derived fibroblasts and neurons.
  • Investigated the role of alternative splicing and splicing factors in C9 NRE RNA biogenesis.
  • Evaluated the efficacy of antisense oligonucleotides (ASOs) in reducing DPR levels.

Main Results:

  • C9 NRE is retained within an extended exon 1 through the use of alternative 5' splice sites, contrary to previous models.
  • Aberrant splice isoforms accumulate in C9-ALS/FTD brains and are promoted by SRSF1.
  • Targeting SRSF1 or aberrant C9 splice isoforms with ASOs effectively reduced DPR protein levels.

Conclusions:

  • Aberrant splicing plays a critical role in the biogenesis of pathogenic C9 NRE-containing RNAs.
  • Targeting aberrant splicing and SRSF1 presents a promising therapeutic strategy for C9-ALS/FTD.