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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

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...

Alternative RNA Splicing

Alternative RNA Splicing

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

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Related Experiment Video

Updated: Mar 29, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

RNA mis-splicing in disease.

Marina M Scotti¹, Maurice S Swanson¹

¹Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine, Gainesville, Florida 32610-3610 USA.

Nature Reviews. Genetics

|November 24, 2015

Summary

This summary is machine-generated.

RNA splicing, essential for gene expression, can be disrupted by mutations, leading to human diseases. This review covers splicing mechanisms, disease links, and novel therapeutic strategies.

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Area of Science:

Molecular Biology
Genetics
Biochemistry

Background:

The human transcriptome involves complex RNA processing through splicing.
Splicing is mediated by spliceosomes and splicing factors, but is vulnerable to genetic variations.
Errors in RNA splicing are increasingly linked to human diseases.

Purpose of the Study:

To provide an overview of RNA splicing mechanisms.
To discuss splicing errors associated with human diseases.
To highlight recent mutations offering insights into splicing regulation and explore therapeutic approaches.

Main Methods:

Literature review of RNA splicing mechanisms.
Analysis of disease-associated splicing errors and mutations.
Discussion of emerging splicing-modulating therapies.

Main Results:

Splicing complexity makes it prone to polymorphisms and mutations.
RNA mis-splicing is implicated in a growing number of human diseases.
Recent mutations have illuminated splicing regulation intricacies.

Conclusions:

Understanding RNA splicing is crucial for comprehending disease pathogenesis.
Splicing-modulating therapies represent a promising avenue for treating genetic disorders.
Further research into splicing regulation can uncover new therapeutic targets.