Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders

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Donner , J , Kaukonen , M , Anderson , H , Moller , F , Kyostila , K , Sankari , S , Hytonen , M , Giger , U & Lohi , H 2016 , ' Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders ' , PLoS One , vol. 11 , no. 8 , 0161005 . https://doi.org/10.1371/journal.pone.0161005

Title: Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
Author: Donner, Jonas; Kaukonen, Maria; Anderson, Heidi; Moller, Fredrik; Kyostila, Kaisa; Sankari, Satu; Hytonen, Marjo; Giger, Urs; Lohi, Hannes
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Departments of Faculty of Veterinary Medicine
University of Helsinki, Hannes Tapani Lohi / Principal Investigator
University of Helsinki, Research Programs Unit
Date: 2016-08-15
Language: eng
Number of pages: 18
Belongs to series: PLoS One
ISSN: 1932-6203
URI: http://hdl.handle.net/10138/166929
Abstract: Background The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, pet care, and genetics research is still unexplored. Results To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA1panel test). In addition to known breed disease-associated mutations, we discovered 15 risk variants in a total of 34 breeds in which their presence was previously undocumented. We followed up on seven of these genetic findings to demonstrate their clinical relevance. We report additional breeds harboring variants causing factor VII deficiency, hyperuricosuria, lens luxation, von Willebrand's disease, multifocal retinopathy, multidrug resistance, and rod-cone dysplasia. Moreover, we provide plausible molecular explanations for chondrodysplasia in the Chinook, cerebellar ataxia in the Norrbottenspitz, and familiar nephropathy in the Welsh Springer Spaniel. Conclusions These practical examples illustrate how genetic panel screening represents a comprehensive, efficient and powerful diagnostic and research discovery tool with a range of applications in veterinary care, disease research, and breeding. We conclude that several known disease alleles are more widespread across different breeds than previously recognized. However, careful follow up studies of any unexpected discoveries are essential to establish genotype-phenotype correlations, as is readiness to provide genetic counseling on their implications for the dog and its breed.
Subject: PRIMARY LENS LUXATION
FACTOR-VII DEFICIENCY
DOG BREEDS
HYPERURICOSURIA
CATALASE
DISEASES
TERRIERS
MODEL
413 Veterinary science
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