Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome protein 1: ALMS1 p.G3376R). These variants are considered breed-specific, with the exception of MYBPC3 p.A74T, and have rarely been found in other breeds. However, genetic studies on HCM-associated variants across breeds are still insufficient because of population and breed bias caused by differences in genetic background. This study investigates the ubiquitous occurrence of HCM-associated genetic variants among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of MYBPC3 p.A31P and ALMS1 p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. In addition, our results indicate that the ALMS1 variants identified in the Sphynx breed might not be Sphynx-specific. Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner. Furthermore, applying genetic testing to Munchkin and Scottish Fold, the breeds with both MYBPC3 and ALMS1 variants, will help prevent the development of new HCM-affected cat colonies.
Several hundred mutations are known to cause disease in domestic dogs. Breeding management is therefore required to minimize their spread. Recently, genetic methods such as direct-to-consumer testing have gained popularity, but their effects on dog populations are unclear. Here, we aimed to evaluate the influence of genetic testing on the frequency of mutations causing canine degenerative myelopathy and changes to the genetic structure in the Pembroke Welsh corgi population from Japan. Genetic testing of 5,512 dogs for the causative mutation in SOD1 (c.118G>A (p.E40K)) uncovered a recent decrease in frequency from 14.5% (95/657) in 2019 to 2.9% in 2022 (24/820). Genome-wide single nucleotide polymorphism (SNP) analyses of 117 selected dogs revealed no obvious changes in genetic diversity and inbreeding levels between the 2019 and 2022 populations. Further Fst-based analysis to detect selective pressure identified the signature of 143 SNPs, including an SNP located in the intron of SOD1 adjacent to the c.118G>A mutation. Our study highlights that genetic testing can be supported with improved mating choices in breeding programs to avoid inbreeding. This combined strategy could decrease the genetic risk of canine degenerative myelopathy, a fatal dog disease, and its results would be evident within a few years.
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