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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
Exon Recombination02:32

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...
In vitro Mutagenesis01:16

In vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Related Experiment Video

Updated: May 31, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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A novel screening system improves genetic correction by internal exon replacement.

Ulrich Koller1, Verena Wally, Lloyd G Mitchell

  • 1Division of Molecular Dermatology and EB House Austria, Department of Dermatology, Paracelsus Medical University, 5020 Salzburg, Austria. u.koller@salk.at

Nucleic Acids Research
|June 21, 2011
PubMed
Summary

This study introduces a new screening system to improve internal exon replacement using RNA trans-splicing molecules (RTMs). The method significantly enhances the efficiency of correcting genetic defects, offering potential for treating diseases like epidermolysis bullosa.

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Published on: June 15, 2011

Area of Science:

  • Molecular Biology
  • Gene Therapy
  • Genomics

Background:

  • Trans-splicing offers genome reprogramming by replacing exons, but internal exon replacement is inefficient due to uncharacterized requirements.
  • Engineered RNA trans-splicing molecules (RTMs) induce trans-splicing by targeting pre-mRNA with complementary binding domains.

Purpose of the Study:

  • To develop a novel fluorescence-based screening system for identifying efficient RTMs for internal exon replacement.
  • To optimize RTMs for therapeutic applications, particularly for genetic diseases like epidermolysis bullosa.

Main Methods:

  • Constructed a screening system using a GFP-based cassette with COL17A1 exon 52 as the target.
  • Employed a double transfection assay to identify optimal binding domains for RTMs targeting introns 51 and 52.
  • Evaluated RTM efficiency in an endogenous context using a COL17A1 exon 51-intron 51-exon 52-intron 52-exon 53 target.

Main Results:

  • Rapidly identified optimal binding domains for RTMs targeting flanking intronic sequences.
  • Achieved significantly higher GFP expression levels, with up to 61% of cells showing correction.
  • Demonstrated the effectiveness of selected RTMs in an endogenous gene context.

Conclusions:

  • The novel fluorescence-based screening system enables rapid identification of highly efficient RTMs for internal exon replacement.
  • This approach holds promise for advancing therapeutic strategies targeting genetic disorders caused by specific exon mutations.