Heterozygosity testing and multiplex DNA panel screening as a potential tool to monitor health and inbreeding in a small, closed dog population

• Published in: Canine genetics and epidemiology Vol. 5; no. 1; p. 12
• Main Authors: Keijser, S F A, Fieten, H, Vos-Loohuis, M, Piek, C J, Anderson, H, Donner, J, Scholten, I, Nielen, M, Hesselink, J W, van Steenbeek, F G
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 28-12-2018; BioMed Central; BMC
• Subjects: Breeding; Breeding of animals; Canine health; Deoxyribonucleic acid; Disease; DNA; Dog breeding; Dogs; Dutch shepherd dog; Genes; Genetic aspects; Genetic disorder; Genetic disorders; Genetic diversity; Genetic isolation; Genetic relationship; Genomes; Genotype & phenotype; Genotypes; Health aspects; Heterozygosity; Inbreeding; Laboratories; Liability; Multiplexing; Mutation; MyDogDNA; Phenotypes; Population; Population number; Proteins; Screening; Selective breeding; Sigma factor; Single-nucleotide polymorphism; Subgroups; Netherlands; Genetic disorder; Von Willebrand’s disease; Canine health; MyDogDNA; Dog breeding; Dutch shepherd dog; Heterozygosity
• ISSN: 2052-6687; 2052-6687; 2662-9380
• DOI: 10.1186/s40575-018-0068-6

Selective breeding in populations with a limited effective population size may result in a loss of genetic diversity, which can cause an increased concentration of specific disease liability genes. The Dutch Shepherd Dog (DSD) in the Netherlands is an example of such a breed with a small effective population.
To evaluate the measurement of genetic diversity and multiplex DNA panel screening for implementation in a breeding strategy for the Dutch Shepherd Dog (DSD) and to investigate the clinical relevance of potentially identified mutations in the multiplex DNA panel screening.
Genome-wide SNP testing showed genetic isolation and reduced genetic diversity within coat variety subgroups of the DSD. Panel screening identified a Von Willebrand's Disease type I mutation. Although decreased Von Willebrand's Factor proteins were significantly lower in DSDs carrying the VWD-I allele compared to the wildtype, clinical follow-up did not show a significant association between the clinical phenotype and VWD-I genotype.
Genetic relationship measurement within a breed population may be a useful tool to enable breeding strategies to conserve genetic diversity. Results from a disease panel screening need to be evaluated for clinical relevance before breed selection restrictions can be considered.