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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

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

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...

Exon Recombination

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...

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Related Experiment Video

Updated: May 11, 2026

Generating Retinal Injury Models in Xenopus Tadpoles

Generating Retinal Injury Models in Xenopus Tadpoles

Published on: October 13, 2023

Alternative splicing and retinal degeneration.

M M Liu¹, D J Zack

¹Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA.

Clinical Genetics

|May 8, 2013

Summary

This summary is machine-generated.

Alternative splicing defects cause retinal degeneration, including retinitis pigmentosa. Understanding these mutations offers potential for new therapies targeting splicing in eye diseases.

Keywords:

alternative splicing retinal degeneration retinitis pigmentosa small molecules

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Area of Science:

Molecular Biology
Genetics
Ophthalmology

Background:

Alternative splicing is crucial for tissue-specific gene expression.
Approximately 15% of disease-causing point mutations impact pre-mRNA splicing.
Splicing defects are implicated in various inherited retinal degenerative diseases.

Purpose of the Study:

To review cis-acting splice site and trans-acting splicing factor mutations contributing to retinal degeneration.
To highlight the role of splicing in retinal homeostasis and disease pathogenesis.
To explore therapeutic strategies for aberrant splicing in retinal diseases.

Main Methods:

Review of existing literature on splice site and splicing factor mutations in retinal disorders.
Analysis of mutations in specific genes (RPGR, COL2A1, PRPF31, PRPF8, PRPF3) associated with retinal degeneration.
Discussion of the impact of these mutations on pre-mRNA splicing and retinal function.

Main Results:

Numerous splice site mutations identified in retinitis pigmentosa (RP) and cone-rod dystrophies.
Mutations in RPGR and COL2A1 cause X-linked RP and Stickler syndrome, respectively.
Mutations in splicing factors (PRPF31, PRPF8, PRPF3) predominantly cause autosomal dominant RP.

Conclusions:

Pre-mRNA splicing plays a vital role in maintaining retinal health.
Aberrant splicing is a significant factor in the pathogenesis of retinal degenerative diseases.
Therapeutic strategies modulating splicing, such as small molecule therapies, show promise for treating retinal diseases.