A new form of early-onset progressive retinal atrophy (EOPRA) in Portuguese Water Dogs (PWDs) is identified, showing autosomal recessive inheritance. Genome-wide association study (GWAS), linkage analysis, and homozygosity mapping pinpoint a 26-Mb candidate region on canine chromosome 20. Whole-genome sequencing reveals a 1 bp insertion in *CCDC66*, causing a frameshift and truncation (p.Val747SerfsTer8). This variant perfectly co-segregates with the disease. In vitro studies show the mutant *CCDC66* translates into a truncated protein and is mislocalized to the nucleus. The findings support *CCDC66*'s role in retinal function and viability, potentially through its ciliary function.
Publisher
Scientific Reports
Published On
Dec 03, 2020
Authors
Leonardo Murgiano, Doreen Becker, Courtney Spector, Kendall Carlin, Evelyn Santana, Jessica K. Niggel, Vidhya Jagannathan, Tosso Leeb, Sue Pearce-Kelling, Gustavo D. Aguirre, Keiko Miyadera
Tags
progressive retinal atrophy
Portuguese Water Dogs
CCDC66
genetics
autosomal recessive
retinal function
ciliary function
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