Exon Inclusion Evaluation
Exon Inclusion Evaluation - Related Videos
07:02
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Cited by 7 •
2018
Various antisense oligonucleotides (AONs) have been shown to induce exon inclusion (splice modulation) and rescue SMN expression for spinal muscular atrophy (SMA). Here, we describe a protocol for AON lipotransfection to induce exon inclusion in the SMN2 gene and the evaluation methods to determine the efficacy in SMA patient fibroblasts.
02:32
Exon Recombination
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2021
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 has three reading...
01:27
Cell Inclusions
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2025
Prokaryotic cells possess a variety of inclusions that play crucial roles in nutrient storage, metabolic processes, and environmental adaptation. These structures enable bacteria to thrive under fluctuating environmental conditions by storing essential resources and optimizing their metabolic efficiency.Carbon Storage: Poly-β-Hydroxybutyric Acid and Glycogen GranulesBacteria frequently store excess carbon in specialized granules. Poly-β-hydroxybutyric acid (PHB) granules are lipid polymers that...
00:57
Inclusive Fitness
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2025
Most altruistic behavior—in which one animal helps another at a cost to themselves—occurs between relatives. Scientists think these altruistic behaviors evolved because they increase the inclusive fitness of the animal providing help. Inclusive fitness is an individual’s ability to pass down their genes—both through their offspring and the offspring of close relatives with shared genes. If an animal helps a close relative improve their reproductive success, this increases the animal’s...
10:30
Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Cited by 23 •
2016
Exon skipping is currently a most promising therapeutic option for Duchenne muscular dystrophy (DMD). To expand the applicability for DMD patients and to optimize the stability/function of the resulting truncated dystrophin proteins, a multi-exon skipping approach using cocktail antisense oligonucleotides was developed and we demonstrated systemic dystrophin rescue in a dog model.
FAQs
An inclusion level is most informative when interpreted as a relative balance between transcripts that retain the exon and transcripts that skip it. Comparing this balance across relevant conditions can reveal whether RNA processing is shifted toward inclusion or exclusion. The resulting measurement provides a quantitative basis for studying altered gene expression in disease or after treatment.
These approaches measure the same splicing question through different analytical formats. Reverse-transcription PCR, fragment analysis, and RNA sequencing provide alternative ways to compare exon-containing and exon-skipped transcripts. Their assay formats and resulting readouts differ, but each can support calculation of inclusion levels and investigation of transcript changes associated with disease or therapeutic intervention.
Genetic variants can produce splicing defects that change whether a target exon is retained in mature messenger RNA. Exon inclusion evaluation makes that change measurable by comparing the variant-associated transcript pattern with exon-containing and exon-skipped forms. This links a molecular alteration to an RNA-processing consequence and supports characterization of disease-associated splicing abnormalities.
The comparison separates a change in the target exon’s retention from a general observation that transcript levels differ. It shows the relative distribution of the two alternative transcript forms, allowing investigators to determine whether processing favors inclusion or skipping. That distinction matters when assessing disease-associated changes or determining whether a therapy has shifted RNA processing toward a desired pattern.
An evaluation examines RNA-derived transcript patterns for the exon of interest, then identifies products that contain the exon and products in which it is skipped. Investigators quantify or compare these forms to calculate inclusion levels. Reverse-transcription PCR, fragment analysis, or RNA sequencing may provide the measurements, depending on the selected analytical approach.
It is useful when a genetic variant or disease state is suspected of altering pre-mRNA splicing. Measuring the resulting transcript pattern can help characterize a splicing defect, document disease-associated RNA changes, and provide molecular information relevant to diagnosis. The same strategy can evaluate whether a splicing-directed intervention changes the abnormal transcript pattern.
Results can show whether an intervention restores a more normal RNA-processing pattern by changing the balance between exon retention and skipping. They may also identify transcript changes associated with disease, supporting biomarker development. In this way, the measurement connects treatment response with a molecular RNA outcome and helps guide studies of therapies that target pre-mRNA splicing.