Exon Junction Complex

The exon junction complex (EJC) is a protein-RNA assembly deposited on messenger RNA (mRNA) near exon-exon boundaries during pre-mRNA splicing, where it helps coordinate gene expression after transcription. A core complex containing eIF4AIII, MAGOH, Y14, and MLN51 is positioned about 20–24 nucleotides upstream of a splice junction and can recruit additional regulatory factors. EJCs influence mRNA export from the nucleus, translation, localization, and nonsense-mediated decay, a surveillance pathway that removes transcripts containing premature stop codons. Studying EJC formation and function clarifies how splicing communicates with downstream steps of RNA metabolism and how disruptions may contribute to disease.

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Education

JoVE Core - Molecular Biology

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...

Research

JoVE Journal - Medicine
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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.

Measuring Neuromuscular Junction Functionality

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Cited by 7 •

2017

A functional assessment of the neuromuscular junction (NMJ) can provide essential information on the communication between muscle and nerve. Here we describe a protocol to comprehensively evaluate both the NMJ and muscle functionality using two different muscle-nerve preparations, i.e. soleus-sciatic and diaphragm-phrenic.

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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Cited by 64 •

2013

We describe the preparation of barcoded DNA libraries and subsequent hybridization-based exon capture for detection of key cancer-associated mutations in clinical tumor specimens by massively parallel "next generation" sequencing. Targeted exon sequencing offers the benefits of high throughput, low cost, and deep sequence coverage, thus yielding high sensitivity for detecting low frequency mutations.

P-N junction

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2024

A p-n junction is formed when p-type and n-type semiconductor materials are joined together. At the interface of the p-n junction, holes from the p-side and electrons from the n-side begin to diffuse into the opposite sides due to the concentration gradient. This diffusion of carriers leads to a region around the junction where there are no free charge carriers, known as the depletion region. The charge density within the depletion region for the n-side and p-side can be described by the...

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