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Alternative RNA Splicing

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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 Splicing

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Related Experiment Video

Updated: May 17, 2026

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Differentially expressed, variant U1 snRNAs regulate gene expression in human cells.

Dawn O'Reilly¹, Martin Dienstbier, Sally A Cowley

¹Sir William Dunn School of Pathology, University of Oxford, Oxford OX1 3RE, United Kingdom.

Genome Research

|October 17, 2012

Summary

Variant U1 small nuclear (sn)RNA genes, previously thought to be non-functional, actively regulate gene expression. These variant U1 snRNAs control pre-mRNA processing and have biological functions in vivo.

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Area of Science:

Molecular Biology
Genetics
RNA Biology

Background:

Human U1 small nuclear (sn)RNA is essential for pre-mRNA splicing.
Variant (v)U1 snRNA genes, located on chromosome 1, were historically considered pseudogenes.
Recent findings suggest some vU1 snRNA genes produce functional transcripts.

Purpose of the Study:

To investigate the biological function of variant U1 snRNAs.
To identify target genes regulated by a specific vU1 snRNA.
To explore the role of vU1 snRNAs in gene expression regulation.

Main Methods:

Utilized antisense oligonucleotides to inhibit a specific vU1 snRNA in HeLa cells.
Analyzed global transcriptome changes using the Affymetrix Human Exon ST 1.0 array.
Investigated vU1 snRNA packaging into ribonucleoproteins (RNPs).

Main Results:

A specific vU1 snRNA was found to regulate the expression of a subset of genes at the pre-mRNA processing level.
This study provides the first evidence of a biological function for variant U1 snRNAs in vivo.
Differential expression of vU1 snRNA genes was observed in human embryonic stem cells (hESCs) and HeLa cells.

Conclusions:

Variant U1 snRNAs possess a regulatory role in gene expression through pre-mRNA processing.
The packaging of vU1 snRNAs into unique RNPs suggests specialized functions.
Differential expression patterns indicate potential developmental control of RNA processing by vU1 snRNPs.