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Related Concept Videos

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.
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...
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Fly-TILL: reverse genetics using a living point mutation resource.

Jennifer L Cooper1, Bradley J Till, Steven Henikoff

  • 1Howard Hughes Medical Institute and Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109-1024, USA.

Fly
|December 23, 2008
PubMed
Summary
This summary is machine-generated.

Ethyl methanesulfonate (EMS) mutagenesis is key for genetic screens. The Fly-TILL service uses Targeting Induced Local Lesions IN Genomes (TILLING) to provide Drosophila point mutations, revealing insights into genetic resource population dynamics.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Drosophila Research

Background:

  • Ethyl methanesulfonate (EMS) mutagenesis is a standard for genetic screens and reverse genetics.
  • Reverse genetics requires maintaining viable germline libraries for mutation recovery.
  • The Zuker lines are a large collection of EMS-mutagenized Drosophila lines.

Purpose of the Study:

  • To establish a Drosophila reverse-genetic service using the TILLING method.
  • To analyze the population dynamics of EMS-mutagenized lines.
  • To provide point mutations for the Drosophila research community.

Main Methods:

  • Application of the Targeting Induced Local Lesions IN Genomes (TILLING) method.
  • Screening of the Zuker lines, a collection of EMS-mutagenized second- and third-chromosome balanced lines.
  • Analysis of over 2000 point mutations and insertions/deletions (indels).

Main Results:

  • The Fly-TILL service has provided approximately 150 allelic series of point mutations.
  • Evidence for selection and differential mutation recovery based on proximity to balancer breakpoints was observed.
  • Variable mutational densities were found, but valuable mutations were successfully delivered.

Conclusions:

  • The Fly-TILL service has successfully provided valuable point mutations for Drosophila research.
  • Analysis of mutation distribution offers insights into the dynamics of EMS-mutagenized genetic resources.
  • Findings will inform the future development of point-mutation resources for Drosophila.