Exon Intron Structure
Exon Intron Structure - Related Videos
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...
02:41
Chromatin Structure Regulates pre-mRNA Processing
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2020
In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell. The chromatin structure, especially...
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.
11:02
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.
06:43
Robotic Duodenal Sleeve Resection for Gastrointestinal Stromal Tumor with Rare Exon 8 KIT Mutation Following Neoadjuvant Imatinib
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2026
This video case report demonstrates the unique management of a duodenal gastrointestinal stromal tumor with a rare, understudied, exon 8 KIT mutation. Neoadjuvant therapy resulted in a 30% reduction in tumor size, making the patient a candidate for a robotic-assisted duodenal sleeve resection instead of the more morbid pancreaticoduodenectomy.
FAQs
The spliceosome recognizes conserved sequences located at intron boundaries in the newly transcribed pre-mRNA. These signals guide the molecular cutting and joining steps, allowing neighboring exons to be connected in the correct order. Accurate boundary recognition is essential because an error can alter the resulting messenger RNA and may change the protein produced from the gene.
Alternative splicing allows cells to select different combinations of exons when processing the same pre-mRNA. Each selected combination can generate a distinct messenger RNA, which may then produce a different protein variant. This mechanism gives exon-intron structure an important role in regulated gene expression and helps explain how one gene can support multiple biological outputs.
Mutations near intron boundaries can interfere with the conserved signals required for spliceosome recognition and RNA processing. As a result, exon joining may be disrupted, producing an altered messenger RNA rather than the expected transcript. Researchers therefore examine these regions when interpreting genetic variants and investigating whether abnormal splicing could contribute to disease.
Genome annotation uses exon-intron organization to help identify and describe gene structures within genomic sequences. By determining which regions contribute to mature RNA and how they are separated by introns, researchers can build models of gene organization and compare possible transcript arrangements. This information supports interpretation of gene function and subsequent studies of RNA processing.
Examining exon-intron structure reveals how transcription is followed by RNA processing and how regulated exon selection can influence gene output. Researchers can compare transcript arrangements to determine whether a gene may produce multiple messenger RNA or protein variants. This provides a framework for connecting gene organization with changes in expression during molecular or developmental studies.
Researchers can map exon and intron arrangements, examine conserved boundary regions, and compare the RNA products generated after processing. These analyses help test whether alternative exon selection accompanies regulated expression or developmental changes. The same approach can also support experiments that evaluate how sequence alterations affect splicing, transcript structure, and the protein variants expected from a gene.