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Mutations

Mutations

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

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

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...

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...

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: Jun 13, 2026

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

Pathogenic variants that alter protein code often disrupt splicing.

Rachel Soemedi^1,2, Kamil J Cygan^1,2, Christy L Rhine²

¹Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, USA.

Nature Genetics

|April 19, 2017

Summary

This summary is machine-generated.

Identifying disease-causing mutations is key for precision medicine. This study reveals that many mutations affecting RNA splicing cluster in specific genes, and a new assay accurately detects these splicing defects.

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Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Precision medicine relies on identifying disease-causing genetic variants.
Approximately one-third of disease-associated alleles are known to affect RNA splicing.
Splicing-altering alleles may be concentrated in specific gene types, such as haploinsufficient genes.

Purpose of the Study:

To investigate the prevalence and characteristics of exonic mutations that alter RNA splicing.
To develop and validate a high-throughput method for assessing the impact of genetic variants on splicing.
To facilitate variant classification for improved genetic diagnostics.

Main Methods:

Analysis of 4,964 published disease-causing exonic mutations.
Utilized a massively parallel splicing assay (MaPSy) to experimentally assess splicing alterations.
Compared MaPSy results with splicing patterns observed in patient tissues.

Main Results:

Approximately 10% of analyzed exonic mutations were found to alter RNA splicing.
The MaPSy assay demonstrated an 81% concordance rate with splicing in patient tissues.
Splicing-altering mutations frequently disrupted multiple stages of spliceosome assembly.

Conclusions:

A significant proportion of exonic mutations impact RNA splicing, often affecting critical spliceosome functions.
The developed massively parallel splicing assay (MaPSy) provides a reliable and scalable method for characterizing splicing mutations.
This technology aids in classifying genetic variants and advancing precision medicine.