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Exon Recombination

Exon Recombination

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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RNA Splicing

RNA Splicing

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...

RNA Splicing

RNA Splicing

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...

Alternative RNA Splicing

Alternative RNA Splicing

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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RNA Interference

RNA Interference

RNA interference (RNAi) is a process in which a small non-coding RNA molecule blocks the post-transcriptional expression of a gene by binding to its messenger RNA (mRNA) and preventing the protein from being translated.
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Nonsense-mediated mRNA Decay

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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.
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Related Experiment Video

Updated: May 23, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Antisense genes to induce exon inclusion.

Rachel Nlend Nlend¹, Daniel Schümperli

¹Institute of Cell Biology, University of Bern, Bern, Switzerland.

Methods in Molecular Biology (Clifton, N.J.)

|March 29, 2012

Summary

This summary is machine-generated.

Researchers developed U7 small nuclear RNA (snRNA) constructs to precisely control RNA splicing. These constructs successfully restored exon inclusion in Spinal Muscular Atrophy (SMA) models, offering a potential therapeutic strategy for inherited diseases.

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Last Updated: May 23, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

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Published on: February 1, 2019

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

Area of Science:

Molecular Biology
Genetics
RNA Biology

Background:

Alternative splicing plays a crucial role in biological processes and disease pathogenesis.
Modulating specific splicing events presents a promising therapeutic avenue for inherited disorders.
Small nuclear RNA (snRNA) U7 is a key component of the spliceosome.

Purpose of the Study:

To develop and validate U7 snRNA-based expression vectors for precise modulation of alternative splicing.
To demonstrate the therapeutic potential of U7 constructs in restoring exon inclusion for genetic diseases.
To establish protocols for producing and testing U7 constructs in cellular and in vivo models.

Main Methods:

Development of U7 snRNA expression vectors encoding antisense RNAs.
Cell culture experiments to assess RNA and protein level changes.
Analytical techniques including RT-PCR, quantitative real-time RT-PCR, Western blot, and immunofluorescence.
Introduction of U7 cassettes into gene transfer vectors for in vivo applications.

Main Results:

U7 snRNA constructs specifically modulate individual exon splicing by accumulating in the nucleus.
Demonstrated restoration of exon 7 inclusion in the SMN2 gene in a severe mouse model of Spinal Muscular Atrophy (SMA).
Alleviation or complete cure of SMA disease symptoms in the mouse model.
Established procedures for producing and validating U7 constructs, including methods for assessing RNA and protein expression restoration.

Conclusions:

U7 snRNA constructs offer a highly specific method for modulating alternative splicing events.
This approach holds significant therapeutic potential for inherited diseases like SMA by correcting aberrant splicing.
The described methods provide a framework for developing U7-based gene therapies for a range of genetic disorders.