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Related Concept Videos

Exon Recombination02:32

Exon Recombination

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...
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...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

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Related Experiment Video

Updated: May 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Bioinformatics and mutations leading to exon skipping.

F O Desmet1, C Béroud

  • 1INSERM U1052 CNRS 5286, Lyon, France.

Methods in Molecular Biology (Clifton, N.J.)
|March 29, 2012
PubMed
Summary

Understanding genetic mutations impacting mRNA splicing is crucial for diagnosing genetic diseases. Current bioinformatics tools struggle to predict if mutations cause exon skipping or cryptic splice site activation.

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Advances in understanding human genes and genetic diseases reveal mutations affecting mRNA are often pathogenic.
  • The complex mechanism of RNA splicing is increasingly understood, leading to the development of bioinformatics tools.
  • These tools analyze splicing signals (splice sites, branch points, ESE, ESS) and predict mutation impacts.

Purpose of the Study:

  • To highlight the need for improved prediction of mutation consequences on RNA splicing.
  • To address the challenge of predicting whether splicing-affecting mutations lead to exon skipping or cryptic splice site activation.

Main Methods:

  • Utilizing bioinformatics tools to search for splicing signal motifs.
  • Employing predictive algorithms to assess the impact of mutations on splicing signals.

More Related Videos

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

Related Experiment Videos

Last Updated: May 23, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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

  • Integrating experimental splicing data with bioinformatics predictions.

    • Main Results:

    • Current bioinformatics tools can identify mutations affecting splicing signals.
    • However, predicting the precise outcome (exon skipping vs. cryptic splice site activation) remains a significant challenge.
    • Despite progress, accurately forecasting mutation effects on splicing requires further development.

    Conclusions:

    • Accurate prediction of mutation impacts on RNA splicing is essential for diagnosing genetic diseases.
    • Further research and development in bioinformatics are needed to overcome current limitations in predicting splicing outcomes.
    • Bridging the gap between bioinformatics predictions and experimental validation is key to advancing genetic disease diagnostics.