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Tatyana Appelbaum¹, Leonardo Murgiano¹, Doreen Becker^1,2

¹Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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|December 16, 2020

Summary

Genetic variants in ROBO1, ROBO1-AS, ROBO2-AS, and USP25 are linked to X-linked progressive retinal atrophy 1 (XLPRA1) severity. This research clarifies the genetic basis of XLPRA1 and highlights ROBO pathways in retinal degeneration.

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Area of Science:

Genetics
Ophthalmology
Molecular Biology

Background:

X-linked progressive retinal atrophy 1 (XLPRA1) is a canine retinal degeneration caused by a mutation in RPGR exon ORF15.
Phenotypic variability in XLPRA1 severity suggests the involvement of modifier genes.
Understanding these genetic modifiers is crucial for comprehending retinal degeneration pathways.

Purpose of the Study:

To identify genetic variants associated with the variable severity of XLPRA1.
To investigate the role of modifier genes in RPGRorf15-associated retinal degeneration.
To elucidate the genetic basis of phenotypic variation in canine XLPRA1.

Main Methods:

Genome-wide association study (GWAS) in XLPRA1-informative pedigrees.
Whole genome sequencing (WGS) for mutational analysis in candidate regions.
Retinal gene expression, structure, and RNA duplex analyses in normal and affected dogs.

Main Results:

GWAS identified a 4.6 Mb candidate region on CFA31 containing seven retinal genes and two novel long non-coding RNAs (lncRNAs), ROBO1-AS and ROBO2-AS.
ROBO1-AS and ROBO2-AS form sense-antisense gene pairs with ROBO1 and ROBO2, respectively, creating lncRNA/mRNA duplexes.
Genetic variants in ROBO1, ROBO1-AS, ROBO2-AS, and USP25 were strongly associated with a moderate XLPRA1 phenotype.

Conclusions:

The study reveals genetic variants influencing XLPRA1 severity, expanding knowledge of RPGRorf15-associated retinal degeneration.
Findings implicate ROBO pathways in disease progression, building upon previous observations of altered ROBO1 expression in XLPRA1 retinas.
This research provides critical insights into the genetic architecture of canine retinal diseases and potential therapeutic targets.