PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Importance: Understanding the susceptibility of native Korean dogs to genetic diseases is important for animal welfare and breeding. However, little is known regarding the segregation of genetic variations associated with genetic diseases among native Korean dog breeds, highlighting the need for further research in this area.

Objective: A genome-wide analysis was conducted using the available whole genome sequencing (WGS) results of DongGyeongi, Sapsaree, and Jindo dogs to evaluate the presence of disease-associated mutations and develop polymerase chain reaction (PCR)-based typing methods.

Methods: Using WGS data from 32 individuals of DongGyeongi, Sapsaree, and Jindo dogs, variant calling was used to identify variants associated with canine genetic diseases in Online Mendelian Inheritance in Animals. Additionally, allele-specific PCR-based typing methods for the identified mutations were developed.

Results: Four different variants were identified: NC_006583.3:g.54192143C>G in the T gene associated with the bobtail phenotype, NC_006585.3:g.69456869G>T in SLC2A9 associated with urolithiasis, NC_006591.3:g.6048201_6048202insG in BTBD17 associated with abortion, and NC_006607.3:g.48121642G>A in MLPH associated with coat color dilution. The BTBD17 mutant allele was present in all breeds (frequency = 0.33), whereas the MLPH mutant allele was found only in DongGyeongi (0.18) and Sapsaree breeds (0.20). The T and SLC2A9 mutant alleles were specific to DongGyeongi (0.20 and 0.18, respectively).

Conclusions and relevance: Genome-wide analysis was conducted to identify the causative mutations of genetic diseases in native Korean dogs. The observed frequencies of the identified variants differed among native Korean dog breeds. The typing methods used to detect variant alleles in this study will contribute to improving the genetic robustness of native Korean dog breeds.