Genetic Variations Strongly Influence Phenotypic Outcome in the Mouse Retina

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2011 Jul 23

PMID 21779340

Citations 24

Authors

Austin S Jelcick

Yang Yuan

Barrett D Leehy

Lakeisha C Cox

Alexandra C Silveira

Fang Qiu

Sarah Schenk

Andrew J Sachs

Margaux A Morrison

Arne M Nystuen

Margaret M Deangelis

Neena B Haider

Affiliations

Soon will be listed here.

Abstract

Variation in genetic background can significantly influence the phenotypic outcome of both disease and non-disease associated traits. Additionally, differences in temporal and strain specific gene expression can also contribute to phenotypes in the mammalian retina. This is the first report of microarray based cross-strain analysis of gene expression in the retina investigating genetic background effects. Microarray analyses were performed on retinas from the following mouse strains: C57BL6/J, AKR/J, CAST/EiJ, and NOD.NON-H2(-nb1) at embryonic day 18.5 (E18.5) and postnatal day 30.5 (P30.5). Over 3000 differentially expressed genes were identified between strains and developmental stages. Differential gene expression was confirmed by qRT-PCR, Western blot, and immunohistochemistry. Three major gene networks were identified that function to regulate retinal or photoreceptor development, visual perception, cellular transport, and signal transduction. Many of the genes in these networks are implicated in retinal diseases such as bradyopsia, night-blindness, and cone-rod dystrophy. Our analysis revealed strain specific variations in cone photoreceptor cell patterning and retinal function. This study highlights the substantial impact of genetic background on both development and function of the retina and the level of gene expression differences tolerated for normal retinal function. These strain specific genetic variations may also be present in other tissues. In addition, this study will provide valuable insight for the development of more accurate models for human retinal diseases.

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