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Related Concept Videos

Alternative RNA Splicing02:18

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...
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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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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. 
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Updated: Dec 18, 2025

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
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Splicing mutations in inherited retinal diseases.

Nicole Weisschuh1, Elena Buena-Atienza1, Bernd Wissinger1

  • 1Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany.

Progress in Retinal and Eye Research
|June 20, 2020
PubMed
Summary

Splicing mutations in inherited retinal diseases disrupt gene transcripts, leading to vision loss. Identifying and validating these complex genetic variants is crucial for developing effective therapies.

Keywords:
Cryptic splice sitesDeep-intronic mutationsInherited retinal diseaseSplicing correction therapiesSplicing mutations

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Area of Science:

  • Genetics
  • Molecular Biology
  • Ophthalmology

Background:

  • Aberrant transcript splicing caused by genetic mutations is a significant factor in inherited retinal diseases.
  • These mutations can disrupt normal splice sites or create new ones, altering gene expression and protein function.

Purpose of the Study:

  • To provide a comprehensive overview of splicing mutations in inherited retinal diseases.
  • To discuss the identification, validation, and therapeutic strategies for these mutations.

Main Methods:

  • Review of current knowledge on splicing mutations.
  • Analysis of common mutation sub-classes with examples.
  • Discussion of identification and validation techniques.

Main Results:

  • Splicing mutations represent a distinct class of disease-causing variants in retinal genes.
  • Variants affecting canonical splice sites are predictable, while others require experimental validation.
  • Mutation outcomes vary, impacting transcripts through exon skipping, pseudoexon inclusion, or intron retention.

Conclusions:

  • Understanding splicing mutations is vital for diagnosing and treating inherited retinal diseases.
  • Further research is needed to refine identification methods and develop targeted therapies.