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Related Concept Videos

Alternative RNA Splicing02:18

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.
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...
Alternative RNA Splicing02:18

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.
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...
RNA Splicing01:32

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 Splicing01:32

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 Editing02:23

RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
Pre-mRNA Processing02:01

Pre-mRNA Processing

In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...

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Related Experiment Video

Updated: Jun 6, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Altered mRNA splicing in lipoprotein disorders.

Sebastiano Calandra1, Patrizia Tarugi, Stefano Bertolini

  • 1Department of Biomedical Sciences, University of Modena & Reggio Emilia, Modena, Italy.

Current Opinion in Lipidology
|December 16, 2010
PubMed
Summary

Genomic variants in introns and exons can disrupt pre-mRNA splicing, leading to abnormal proteins in monogenic dyslipidemias. Functional studies are crucial for assessing the pathogenicity of these splicing mutations.

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A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

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Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Monogenic dyslipidemias, such as familial hypercholesterolemia, are often caused by genetic variants.
  • A significant percentage of these variants occur in introns and affect pre-mRNA splicing.

Purpose of the Study:

  • To review recent publications on the functional assessment of genomic variants impacting pre-mRNA splicing.
  • To examine variants in familial hypercholesterolemia, familial HDL deficiency/Tangier disease, and familial hypobetalipoproteinemia.

Main Methods:

  • In-silico algorithms were developed to predict the effects of intronic variants on splicing.
  • Wet bench analyses were combined with in-silico predictions for functional validation.
  • Analysis focused on variants affecting splice sites and those creating novel splice sites within exons.

Main Results:

  • Approximately 5-10% of variants in candidate genes for these dyslipidemias are splicing mutations located in introns.
  • While variants at conserved splice sites are often pathogenic, predicting the impact of deep intronic variants remains challenging.
  • Functional studies revealed that some intronic variants, initially classified as pathogenic, had no effect, while others led to abnormal transcripts. Exonic variants and silent mutations can also create new splice sites, resulting in aberrant transcripts.

Conclusions:

  • Both intronic and exonic variants can significantly affect pre-mRNA splicing.
  • These splicing alterations can lead to the production of structurally abnormal proteins, contributing to disease pathogenesis.
  • Functional assessment is essential for accurately classifying the pathogenicity of splicing variants.