Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
Publication Date
August 15, 2016
Journal
PLOS ONE
Authors
Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, et al
Volume
11
Issue
8
Pages
e0161005
DOI
https://dx.plos.org/10.1371/journal.pone.0161005
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0161005
Scopus
84984650214
Mendeley
http://www.mendeley.com/research/genetic-panel-screening-nearly-100-mutations-reveals-new-insights-breed-distribution-risk-variants-c
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Mendeley | Further Information

{"title"=>"Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders", "type"=>"journal", "authors"=>[{"first_name"=>"Jonas", "last_name"=>"Donner", "scopus_author_id"=>"57190949912"}, {"first_name"=>"Maria", "last_name"=>"Kaukonen", "scopus_author_id"=>"56418279000"}, {"first_name"=>"Heidi", "last_name"=>"Anderson", "scopus_author_id"=>"57190946612"}, {"first_name"=>"Fredrik", "last_name"=>"M�ller", "scopus_author_id"=>"57201140855"}, {"first_name"=>"Kaisa", "last_name"=>"Ky�stil�", "scopus_author_id"=>"57201141793"}, {"first_name"=>"Satu", "last_name"=>"Sankari", "scopus_author_id"=>"7003356498"}, {"first_name"=>"Marjo", "last_name"=>"Hyt�nen", "scopus_author_id"=>"57201140841"}, {"first_name"=>"Urs", "last_name"=>"Giger", "scopus_author_id"=>"7004892238"}, {"first_name"=>"Hannes", "last_name"=>"Lohi", "scopus_author_id"=>"6602309083"}], "year"=>2016, "source"=>"PLoS ONE", "identifiers"=>{"sgr"=>"84984650214", "doi"=>"10.1371/journal.pone.0161005", "pui"=>"611884803", "pmid"=>"27525650", "scopus"=>"2-s2.0-84984650214", "issn"=>"19326203", "isbn"=>"1932-6203; 1932-6203"}, "id"=>"5eabdb30-6cf7-3254-befb-fb21e90abff5", "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 MyDogDNA® panel 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.", "link"=>"http://www.mendeley.com/research/genetic-panel-screening-nearly-100-mutations-reveals-new-insights-breed-distribution-risk-variants-c", "reader_count"=>21, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Professor > Associate Professor"=>3, "Librarian"=>1, "Researcher"=>2, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Other"=>3, "Student > Master"=>2, "Student > Bachelor"=>2, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Professor > Associate Professor"=>3, "Librarian"=>1, "Researcher"=>2, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Other"=>3, "Student > Master"=>2, "Student > Bachelor"=>2, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Environmental Science"=>1, "Biochemistry, Genetics and Molecular Biology"=>3, "Nursing and Health Professions"=>1, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>2, "Veterinary Science and Veterinary Medicine"=>7, "Chemistry"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Chemistry"=>{"Chemistry"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>3}, "Unspecified"=>{"Unspecified"=>1}, "Environmental Science"=>{"Environmental Science"=>1}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>7}}, "reader_count_by_country"=>{"Finland"=>1}, "group_count"=>2}

Scopus | Further Information

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