title: The prevalence of ABCB1:c.227_230delATAG mutation in affected dog breeds from European countries.
abstract: Deletion of 4-base pairs in the canine ABCB1 (MDR1) gene, responsible for encoding P-glycoprotein, leads to nonsense frame-shift mutation, which causes hypersensitivity to macrocyclic lactones drugs (e.g. ivermectin). To date, at least 12 purebred dog breeds have been found to be affected by this mutation. The aim of this study was to update information about the prevalence of ABCB1 mutation (c.227_230delATAG) in predisposed breeds in multiple European countries. This large scale survey also includes countries which were not involved in previous studies. The samples were collected in the period from 2012 to 2014. The overview is based on genotyping data of 4729 individuals. The observed mutant allele frequencies were 58.5% (Smooth Collie), 48.3% (Rough Collie), 35% (Australian Shepherd), 30.3% (Shetland Sheepdog), 28.1% (Silken Windhound), 26.1% (Miniature Australian Shepherd), 24.3% (Longhaired Whippet), 16.2% (White Swiss Shepherd) and 0% (Border Collie). The possible presence of an ABCB1 mutant allele in Akita-Inu breed has been investigated with negative results. This information could be helpful for breeders in optimization of their breeding strategy and for veterinarians when prescribing drug therapy for dogs of predisposed breeds.
authors.affiliation: Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovak Republic.
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Firdova
authors.affiliation: Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovak Republic.
authors.forename: Evelina
authors.initials: E
authors.lastname: Turnova
authors.affiliation: Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovak Republic.
authors.forename: Marcela
authors.initials: M
authors.lastname: Bielikova
authors.affiliation: Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovak Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Turna
authors.affiliation: Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovak Republic. Electronic address: dudas@fns.uniba.sk.
authors.forename: Andrej
authors.initials: A
authors.lastname: Dudas
mesh_terms: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000483:Alleles; D000818:Animals; D001947:Breeding; D004283:Dog Diseases / Q000139:chemically induced* / Q000235:genetics; D004285:Dogs / Q000235:genetics* / Q000378:metabolism; D004342:Drug Hypersensitivity / Q000235:genetics / Q000662:veterinary*; D005060:Europe; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018942:Macrolides / Q000009:adverse effects; D009154:Mutation
chemical_list: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D018942:Macrolides
keywords: ABCB1 (MDR1) gene; Dog; Drug sensitivity; Mutation; P-glycoprotein