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Related Concept Videos

RNA Splicing01:32

RNA Splicing

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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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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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Nonsense-mediated mRNA Decay02:27

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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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Pre-mRNA Processing: RNA Splicing01:36

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Experimental RNAi02:15

Experimental RNAi

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RNA interference (RNAi) is a cellular mechanism that inhibits gene expression by suppressing its transcription or activating the RNA degradation process. The mechanism was discovered by Andrew Fire and Craig Mello in 1998 in plants. Today, it is observed in almost all eukaryotes, including protozoa, flies, nematodes, insects, parasites, and mammals. This precise cellular mechanism of gene silencing has been developed into a technique that provides an efficient way to identify and determine the...
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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: Jan 18, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Repair of Mutated NF1 mRNA with Trans-Splicing Group I Intron Ribozymes.

André Leier1, Xu Han2, Jehanne Aghzadi2

  • 1Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Cancers
|September 13, 2025
PubMed
Summary
This summary is machine-generated.

Researchers explored RNA trans-splicing to repair Neurofibromatosis Type I (NF1) mRNA variants. This study identified a specific splice site and enhanced ribozyme sequences for potential NF1 RNA repair strategies.

Keywords:
Neurofibromatosis Type ITetrahymena thermophilaextended guide sequencegroup I intronhNF1mNf1ribozymetrans-splicing

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Area of Science:

  • Molecular Biology
  • RNA Therapeutics
  • Genetic Medicine

Background:

  • Neurofibromatosis Type I (NF1) is a genetic disorder caused by pathogenic variants in the NF1 gene.
  • Current treatments focus on managing symptoms, but correcting the underlying genetic defect offers a promising therapeutic avenue.
  • RNA trans-splicing is an emerging strategy for transcript repair, with recent FDA-approved drugs entering clinical trials.

Purpose of the Study:

  • To investigate the potential of trans-splicing group I intron ribozymes from Tetrahymena thermophila for repairing pathogenic NF1 (pre-)mRNA variants.
  • To achieve this by replacing the 3'-tail of the NF1 mRNA.

Main Methods:

  • Computational identification and biochemical validation of splice sites on NF1 mRNA.
  • Identification of an efficiency-enhancing Extended Guide Sequence (EGS) for the ribozyme through combinatorial experiments.

Main Results:

  • The study successfully validated the correct trans-splicing product of the designed ribozyme.
  • Validation was performed in HEK293 NF1-/- cells engineered to express mNf1.

Conclusions:

  • A functional splice site and activity-enhancing extended guide sequences were established for NF1 mRNA repair.
  • Further optimization of ribozyme design and delivery methods are necessary to establish ribozyme-based RNA repair as a viable treatment strategy for NF1.