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

Acta Scientiarum Polonorum Zootechnica

article

Paulina Kurowska¹  Joanna Gruszczyńska²  Beata Grzegrzółka¹ 

[1] Scientific Association of Experimental and Laboratory Animals, Warsaw University of Life Sciences – SGGW;Department of Animal Genetics and Conservation, Institute of Animal Sciences, Warsaw University of Life Sciences – SGGW

关键词: domestic cat;    retinal atrophy;    CEP290;    CRX;    AIPL1;    KIF3B;   

DOI  :  10.21005/asp.2022.21.4.05

学科分类：社会科学、人文和艺术（综合）

来源: West Pomeranian University of Technology

【 摘 要 】

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.

【 授权许可】

CC BY-NC