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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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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...

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...

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Related Experiment Video

Updated: Jan 30, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

SERPING1 exon 3 splicing variants using alternative acceptor splice sites.

Tereza Grymová¹, Lucie Grodecká¹, Přemysl Souček²

¹Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

Molecular Immunology

|January 28, 2019

Summary

Hereditary angioedema (HAE) is linked to SERPING1 gene mutations. This study reveals complex SERPING1 exon 3 splicing variants, including exon skipping, impacting C1 inhibitor levels and HAE.

Keywords:

Acceptor splice site Alternative splicing Exon 3 Hereditary angioedema SERPING1

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Area of Science:

Genetics
Molecular Biology
Immunology

Background:

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent swelling episodes.
Mutations in the SERPING1 gene, encoding C1 inhibitor (C1INH), are the primary cause of HAE.
C1INH plays a crucial role in regulating the complement system.

Purpose of the Study:

To investigate the splicing variants of SERPING1 exon 3.
To understand the functional implications of these variants on C1INH levels and HAE pathogenesis.

Main Methods:

Analysis of SERPING1 endogenous expression in HepG2, human liver, and peripheral blood cells.
Identification and characterization of splicing variants using molecular techniques.
Assessment of splice site strength and regulatory motif influence.

Main Results:

Several SERPING1 exon 3 splicing variants were identified, including exon skipping, +38, and -15 variants.
A prevalent exon skipping variant, introducing a premature stop codon, was not degraded by NMD.
The alternative -15 3' splice site, though weak, was used in a sequence-dependent manner and co-regulated with the authentic splice site.

Conclusions:

Complex splicing regulation of SERPING1 exon 3 contributes to C1INH plasma levels.
These splicing abnormalities are implicated in the pathogenesis of hereditary angioedema.
Understanding SERPING1 splicing offers potential therapeutic targets for HAE.