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RNA Splicing

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 Splicing

RNA Splicing

Mutations

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...

Mutations

Mutations

Mutations

Mutations

Alternative RNA Splicing

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...

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Related Experiment Video

Updated: May 5, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

The missing puzzle piece: splicing mutations.

Marzena A Lewandowska¹

¹Molecular Oncology and Genetics Unit, Department of Tumor Pathology and Pathomorphology, The Franciszek Lukaszczyk Oncology Center Dr I. Romanowskiej 2, 85-796, Bydgoszcz, Poland ; Department of Thoracic Surgery and Tumors, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Nicolaus, Copernicus University Torun, Poland.

International Journal of Clinical and Experimental Pathology

|December 3, 2013

Summary

This summary is machine-generated.

Splicing mutations, often found at exon-intron boundaries, cause genetic disorders by disrupting gene recognition. Molecular methods are crucial for diagnosing these mutations, especially rare ones affecting branch points.

Keywords:

Molecular pathology aberrant splicing branch point mutations

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Last Updated: May 5, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

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Published on: September 15, 2021

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on: April 26, 2017

Area of Science:

Molecular Biology
Genetics
Bioinformatics

Background:

Accurate exon recognition is vital for proper gene splicing.
Splicing mutations, affecting cis and trans elements, lead to genetic disorders.
These mutations can cause exon skipping, altered splice sites, or cryptic exon activation.

Purpose of the Study:

To review the role of splicing mutations in genetic disorders.
To highlight common and rare mutation types and their detection challenges.
To discuss methods for assessing the pathogenicity of splicing alterations.

Main Methods:

Analysis of mutations in intronic sequences and at intron/exon boundaries.
Detection using high-throughput and traditional Sanger sequencing.
Experimental validation via in vitro transcription and hybrid minigene systems.

Main Results:

Splicing mutations account for over 9% of known mutations, likely underestimated.
Donor and acceptor sites are the most frequent mutation locations.
Branch point and polypyrimidine tract mutations are rare but significant.

Conclusions:

Molecular biology methods are essential for confirming splicing mutation pathogenicity.
Advanced sequencing technologies aid in expanding mutation detection panels.
Accurate diagnosis of genetic disorders requires comprehensive splicing mutation analysis.