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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...

Alternative RNA Splicing

Alternative RNA Splicing

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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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Related Experiment Video

Updated: May 29, 2026

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

Self-regulated alternative splicing at the AHNAK locus.

Antoine de Morrée¹, Marjolein Droog, Laure Grand Moursel

¹Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology

|September 24, 2011

Summary

The large AHNAK protein interacts with dysferlin, but cleavage by calpain 3 disrupts this. A smaller AHNAK isoform regulates its own gene expression through a novel positive feedback loop during muscle differentiation.

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Area of Science:

Molecular Biology
Cell Biology
Genetics

Background:

The large AHNAK (700-kDa) protein is crucial for cytoarchitecture and calcium signaling.
AHNAK dysfunction is observed in muscular dystrophies like dysferlinopathy and calpainopathy.
AHNAK directly interacts with dysferlin, a relationship disrupted by calpain 3 cleavage.

Purpose of the Study:

To elucidate the regulatory mechanisms of AHNAK.
To investigate the role of AHNAK isoforms in muscle differentiation.
To understand the post-transcriptional control of AHNAK gene expression.

Main Methods:

Analysis of AHNAK gene structure and mRNA transcripts.
Differential expression studies during muscle differentiation.
Investigation of protein localization and interactions.

Main Results:

AHNAK gene comprises a large exon (17-kb) and multiple small exons, a structure shared with AHNAK2 and Periaxin.
Two major AHNAK transcripts yield 17-kDa and 700-kDa isoforms, differentially expressed during muscle differentiation.
The small AHNAK isoform, present in cytoplasm and nucleus, increases during differentiation, forming a positive feedback loop to regulate its own mRNA splicing.

Conclusions:

AHNAK exhibits self-regulation via a positive feedback loop involving its small isoform.
This mechanism represents a novel form of post-transcriptional gene control.
The findings provide insights into muscular dystrophy pathogenesis and gene regulation.