Exon Intron Splicing

Exon-intron splicing is a biological process that removes noncoding introns from a newly transcribed pre-messenger RNA and joins coding exons to produce mature messenger RNA. In eukaryotic cells, the spliceosome recognizes conserved sequences at intron boundaries, including the 5′ splice site, branch point, and 3′ splice site, then excises each intron as a looped lariat and ligates the neighboring exons. Alternative splicing can combine exons in different patterns, allowing one gene to generate multiple messenger RNAs and proteins. This process is essential for gene expression, expands protein diversity, and provides a mechanism through which splicing defects can alter cellular function and contribute to disease.

Exon Intron Splicing - Related Videos

Education

JoVE Core - Biology

RNA Splicing

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2019

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

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2020

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...

Research

JoVE Journal - Medicine

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.

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

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Cited by 25 •

2016

Here we describe a protocol aimed at investigating the impact of aberrant splicing on drug resistance in solid tumors and hematological malignancies. To this goal, we analyzed the transcriptomic profiles of parental and resistant in vitro models through RNA-seq and established a qRT-PCR based method to validate candidate genes.

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...

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