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Research Article

Identification of mutations of selected genes causing retinal degeneration in the domestic cat (Felis catus) – in silico analysis

Paulina Kurowska¹, Joanna Gruszczyńska ² , Beata Grzegrzółka ¹,²

¹Scientific Association of Experimental and Laboratory Animals, Warsaw University of Life Sciences – SGGW, Warszawa, Poland

²Department of Animal Genetics and Conservation, Institute of Animal Sciences, Warsaw University of Life Sciences – SGGW, Warszawa, Poland

1. Acta Sci. Pol. Zootechnica, 21(4), 2022, 39‒46
2. DOI: 10.21005/asp.2022.21.4.05

Abstract. Retinal degenerations are a series of genetically inherited diseases resulting in significant visual impairment and blindness. Among domestic cat breeds, there are degenerations of different courses associated with mutations in CEP290, CRX, AIPL1 and KIF3B genes. The aim of this study was to design diagnostic tests to identify the mutated alleles. The primers for PCR and restriction enzymes for PCR-RFLP were designed to detect mutations in genes. Mutation in the nucleotide sequence encoding AIPL1 protein causes a change in the protein structure, where a monomer is formed instead of a homodimer. Interactions of CEP290, CRX, AIPL1 and KIF3B proteins with other proteins that play a role in the proper functioning of the retina were observed. The occurring interactions between some of these proteins suggest a possible link between diseases caused by mutations of genes encoding these proteins. In other animal species, co-expression of the analyzed genes with other genes affecting retinal functions was noted.

Keywords: domestic cat, retinal atrophy, CEP290, CRX, AIPL1, KIF3B