Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia

BMC Medical Genomics
Tatiana V TkatchenkoAndrei V Tkatchenko

Abstract

Population studies suggest that genetic factors play an important role in refractive error development; however, the precise role of genetic background and the composition of the signaling pathways underlying refractive eye development remain poorly understood. Here, we analyzed normal refractive development and susceptibility to form-deprivation myopia in the eight progenitor mouse strains of the Collaborative Cross (CC). We used RNA-seq to analyze gene expression in the retinae of these mice and reconstruct genetic networks and signaling pathways underlying refractive eye development. We also utilized genome-wide gene-based association analysis to identify mouse genes and pathways associated with myopia in humans. Genetic background strongly influenced both baseline refractive development and susceptibility to environmentally-induced myopia. Baseline refractive errors ranged from - 21.2 diopters (D) in 129S1/svlmj mice to + 22.0 D in CAST/EiJ mice and represented a continuous distribution typical of a quantitative genetic trait. The extent of induced form-deprivation myopia ranged from - 5.6 D in NZO/HILtJ mice to - 20.0 D in CAST/EiJ mice and also followed a continuous distribution. Whole-genome (RNA-seq) gene expression pro...Continue Reading

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Citations

May 27, 2020·Current Eye Research·Kai Xiong CheongBryan Chin Hou Ang
Nov 5, 2019·Trends in Pharmacological Sciences·Tatiana V Tkatchenko, Andrei V Tkatchenko
Apr 29, 2021·Investigative Ophthalmology & Visual Science·Monica JongEarl L Smith
May 1, 2021·Experimental Eye Research·Hannah YoonFrances Rucker
May 6, 2021·International Journal of Molecular Sciences·Jingfang BianThomas Chuen Lam
Jul 7, 2021·Experimental Eye Research·Jody A SummersAndrei V Tkatchenko

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Methods Mentioned

BETA
RNA-seq
Illumina sequencing
ubiquitination
sumoylation
GTPase

Software Mentioned

Partek
Partek Flow
MAGMA
IPA Pathways Activity Analysis module QIAGEN
Core Functional Analysis in IPA
GOplot
MAGMA ( Multi - marker Analysis of GenoMic Annotation )
GOplot R package
STAR aligner
Partek Genomics Suite

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