September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
A forward genetics approach to discovering novel genes essential to retinal development and function
Author Affiliations & Notes
  • Yi Ding
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
  • Xin Zhong
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
  • Bogale Aredo
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
  • Cynthia Xin-Zhao Wang
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
  • Bruce Beutler
    Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, United States
  • Rafael Ufret-Vincenty
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
  • Footnotes
    Commercial Relationships   Yi Ding, None; Xin Zhong, None; Bogale Aredo, None; Cynthia Wang, None; Bruce Beutler, None; Rafael Ufret-Vincenty, None
  • Footnotes
    Support  Research to Prevent Blindness,Visual Science Core grant EY020799, and the David M. Crowley Foundation
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 2636. doi:
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    • Get Citation

      Yi Ding, Xin Zhong, Bogale Aredo, Cynthia Xin-Zhao Wang, Bruce Beutler, Rafael Ufret-Vincenty; A forward genetics approach to discovering novel genes essential to retinal development and function. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2636.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : We are applying a novel and powerful forward genetics approach to discover essential genes for retinal development and function. This approach relies on generating random mutations and identifying mice expressing strong phenotypes in order to establish gene-phenotype associations.

Methods : In collaboration with Dr. Bruce Beutler’s laboratory, using N-ethyl-N-nitrosourea (ENU)- induced mutagenesis and a special breeding protocol, large numbers of mice with random mutations are generated. Whole exome sequencing of G1 progenitors allows for the identification of all possible mutations. Then their zygosity is established in G2/G3 mice before phenotypic assessment. We examine mice at around 3 months of age by fundus photography, OCT and ERG using a Micron IV system (Phoenix Research Laboratories, Pleasanton, CA). Our findings are then analyzed by software (Linkage Analyzer) that allows us to establish gene-phenotype associations almost immediately after phenotyping.

Results : We are able to analyze two pedigrees of 25-40 mice each week. We will present data from our initial 3 months of this project, to highlight the techniques and initial results. Parameters that were analyzed included: total retinal thickness, outer retinal thickness, outer nuclear layer thickness, ERG A- wave, ERG B-wave, yellow fundus spots and retinal vasculature anomalies.

Conclusions : This forward genetics approach should allow us to identify novel genes associated with retinal development, function and disease. Furthermore, by applying an oxidative stimulus, we hope to use these techniques to identify genes important in the response to retinal oxidative stress in an unbiased manner.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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