Abstract
Hereditary eye diseases of animals serve as excellent models of human ocular disorders and assist in the development of gene and drug therapies for inherited forms of blindness. Several primary hereditary eye conditions affecting various ocular tissues and having different rates of progression have been documented in domestic cats. Gene therapy for canine retinopathies has been successful, thus the cat could be a gene therapy candidate for other forms of retinal degenerations. The current study investigates a hereditary, autosomal recessive, retinal degeneration specific to Persian cats. A multi-generational pedigree segregating for this progressive retinal atrophy was genotyped using a 63 K SNP array and analyzed via genome-wide linkage and association methods. A multi-point parametric linkage analysis localized the blindness phenotype to a ~1.75 Mb region with significant LOD scores (Z ≈ 14, θ = 0.00) on cat chromosome E1. Genome-wide TDT, sib-TDT, and case–control analyses also consistently supported significant association within the same region on chromosome E1, which is homologous to human chromosome 17. Using haplotype analysis, a ~1.3 Mb region was identified as highly associated for progressive retinal atrophy in Persian cats. Several candidate genes within the region are reasonable candidates as a potential causative gene and should be considered for molecular analyses.Electronic supplementary materialThe online version of this article (doi:10.1007/s00335-014-9517-z) contains supplementary material, which is available to authorized users.
Highlights
The eye is a highly complex organ comprised of several highly specialized cells
The current study investigates a hereditary, autosomal recessive, retinal degeneration specific to Persian cats
The domestic cat constitutes an ideal model for human eye diseases due to the high similarity in structure and function
Summary
The eye is a highly complex organ comprised of several highly specialized cells. The development, structure, and function of the eye involves the interaction of thousands of genes. Genetic mutations in genes involving the eye are likely to be detrimental to the fitness of cats, especially random-bred cats. As of 2012, 232 genetic eye conditions have been mapped to a genomic location in humans and 192 loci associated with vision abnormalities have been. Rah College of Medicine, Chungbuk National University, Chongju, Chungbuk Province, South Korea. L. Good Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California - Davis, Davis, CA 95616, USA
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