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Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update

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Abstract

Vast progress has been made in the clinical diagnosis and molecular basis of hereditary diseases and genetic predisposition in companion animals. The purpose of this report is to provide an update on the availability of DNA testing for hereditary diseases and genetic predispositions in dogs and cats utilizing the WSAVA-PennGen DNA Testing Database web resource (URL: http://research.vet.upenn.edu/WSAVA-LabSearch). Information on hereditary diseases, DNA tests, genetic testing laboratories and afflicted breeds added to the web-based WSAVA-PennGen DNA Testing Database was gathered. Following verification through original research and clinical studies, searching various databases on hereditary diseases in dogs and cats, and contacting laboratories offering DNA tests, the data were compared to the resource reported on in 2013. The number of molecularly defined Mendelian inherited diseases and variants in companion animals listed in the WSAVA-PennGen DNA Testing Database in 2020 drastically increased by 112% and 141%, respectively. The number of DNA variant tests offered by each laboratory has also doubled for dogs and cats. While the overall number of laboratories has only slightly increased from 43 to 47, the number of larger corporate laboratories increased, while academic laboratories have declined. In addition, there are now several laboratories that are offering breed-specific or all-breed panel tests rather than single-DNA tests for dogs and cats. This unique regularly updated searchable web-based database allows veterinary clinicians, breeders and pet owners to readily find available DNA tests, laboratories performing these DNA tests worldwide, and canine and feline breeds afflicted and also serves as a valuable resource for comparative geneticists.

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References

  • AKC Canine Health Foundation (2020). https://www.akcchf.org. Accessed Jan 2021

  • American Kennel Club, AKC (2020). https://www.akc.org. Accessed Jan 2021

  • Association of American Veterinary Medical Colleges, AAVMC (2019). https://www.aavmc.org. Accessed Jan 2021

  • Awano T, Johnson GS, Wade CM et al (2009) Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 106:2794–2799

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bauer A, De Lucia M, Jagannathan V, Mezzalira G, Casal ML, Welle MM, Leeb T (2017) A large deletion in the NSDHL gene in Labrador retrievers with a congenital cornification disorder. G3 7:3115–3121

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bell JS, Cavanagh KE, Tilley LP, Smith FWK (2012) Veterinary medical guide to dog and cat breeds. Teton NewMedia, Jackson

    Book  Google Scholar 

  • Bradbury AM, Morrison NE, Hwang M, Cox NR, Baker HJ, Martin DR (2009) Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab 97:53–59

    Article  CAS  PubMed  Google Scholar 

  • Bradbury AM, Gurda BL, Casal ML, Ponder KP, Vite CH, Haskins ME (2015) A review of gene therapy in canine and feline models of lysosomal storage disorders. Hum Gene Ther Clin Dev 26:27–37

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brenig B, Steingräber L, Shan S et al (2019) Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter. Haematologica 104:2307–2313

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brons AK, Henthorn PS, Raj K et al (2013) SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400–1408

    Article  PubMed  Google Scholar 

  • Brooks MB, Catalfamo JL (2010) Von Willebrand disease. In: Weiss DJ, Wardrop KJ (eds) Schalm’s veterinary hematology, 6th edn. Wiley, New York, pp 612–618

    Google Scholar 

  • Brooks MB, Gu W, Barnas JL, Ray J, Ray K (2003) A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs. Mamm Genome 14:788–795

    Article  CAS  PubMed  Google Scholar 

  • Casal M, Haskins ME (2006) Large animal models and gene therapy. Eur J Med Genet 14(3):266–272

    CAS  Google Scholar 

  • Cat Fanciers’ Association, CFA (2020). https://cfa.org. Accessed Jan 2021

  • Clark LA, Tsai KL, Starr AN, Nowend KL, Murphy KE (2011) A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning. Genomics 97:244–248

    Article  CAS  PubMed  Google Scholar 

  • Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ (2010) Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet 19:584–596

    Article  CAS  PubMed  Google Scholar 

  • Clavero S, Ahuja Y, Bishop DF et al (2013) Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J 198:720–722

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Donner J, Kaukonen M, Anderson H et al (2016) Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS ONE 11:e0161005

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Donner J, Anderson H, Davison S et al (2019) Correction: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet 15:e1007938

    Article  PubMed  PubMed Central  Google Scholar 

  • Evans JP, Brinkhous KM, Brayer GD, Reisner HM, High K (1989) Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci USA 86:10005–10099

    Google Scholar 

  • Federation Cynologique Internationale, FCI (2020). http://www.fci.be/en/. Accessed Jan 2021

  • Gandolfi B, Alamri S, Darby WG et al (2016) A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. Osteoarthr Cartil 24:1441–1450

    Article  CAS  Google Scholar 

  • Ghielmetti G, Giger U (2020) Mycobacterium avium: an emerging pathogen for dog breeds with hereditary immunodeficiencies. Curr Clin Micro Rpt 7:67–80

    Article  Google Scholar 

  • Giger U (2017) WSAVA hereditary disease report. BSAVA Compan Reports. March, pp 26–27

  • Giger U (2019) Feline hereditary diseases. In: Lutz H, Kohn B, Forterre F (eds) Thieme Verlag Krankheiten der Katze, 6th edn. Stuttgart. pp 945–955

  • Giger U, Rajpurohit Y, Wang P et al (1997) Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats [abstract]. Blood 90(Suppl.):5b

    Google Scholar 

  • Giger U, Sargan DR, McNiel EA (2006) Breed-specific hereditary diseases and genetic screening. In: Ostrander E, Giger U, Lindblad-Toh K (eds) The dog and its genome. New York, pp 249–289

  • Gu W, Brooks M, Catalfamo J, Ray J, Ray K (1999) Two distinct mutations cause severe hemophilia B in two unrelated canine pedigrees. J Thromb Haemost 82:1270–1275

    Article  CAS  Google Scholar 

  • Gultekin GI, Raj K, Foureman P et al (2012) Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J Vet Intern Med 26:935–944

    Article  PubMed  Google Scholar 

  • Hayward JJ, Castelhano MG, Oliveira KC et al (2016) Complex disease and phenotype mapping in the domestic dog. Nat Commun 7:10460

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Human Genome Variation Society, HGVS (2020). https://varnomen.hgvs.org. Accessed Jan 2021

  • International Partnership for Dogs, IPFD (2020). https://www.dogwellnet.com/. Accessed Jan 2021

  • Jagannathan V, Drögemüller C, Leeb T, Dog Biomedical Variant Database Consortium (2019) A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. Anim Genet 50:695–704

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kanae Y, Endoh D, Yamato O et al (2007) Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci 82:54–60

    Article  CAS  PubMed  Google Scholar 

  • Karmi N, Brown EA, Hughes SS et al (2010) Estimated frequency of the canine hyperuricosuria mutation in different dog breeds. J Vet Intern Med 24:1337–1342

    Article  CAS  PubMed  Google Scholar 

  • Kehl A, Truchet L, Langbein-Detsch I, Müller E, Giger U (2019) Updates on practical ABC blood compatibility testing in cats. Tierarztl Prax 47:425–438

    Article  Google Scholar 

  • Kennel Club, KC (2020). https://www.thekennelclub.org.uk. Accessed Jan 2021

  • Kushida K, Giger U, Tsutsui T et al (2015) Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. J Vet Med Sci 77:743–746

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lequarré AS, Andersson L, André C, Fredholm M, Hitte C, Leeb T, Lohi H, Lindblad-Toh K, Georges M (2011) LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs. Vet J 189:155–159

    Article  PubMed  Google Scholar 

  • Leuthard F et al (2019) A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. Anim Genet 50:768–771

    Article  CAS  PubMed  Google Scholar 

  • Longeri M, Chiodi A, Brilli M et al (2019) Targeted genotyping by sequencing: a new way to genome profile the cat. Anim Genet 50:718–725

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lustgarten JL, Zehnder A, Shipman W, Gancher E, Webb TL (2020) Veterinary informatics: forging the future between veterinary medicine, human medicine, and One Health initiatives—a joint paper by the Association for Veterinary Informatics (AVI) and the CTSA One Health Alliance (COHA). J Am Med Inf Assoc 3:306–317

    Google Scholar 

  • Lyons LA (2015) DNA mutations of the cat: the good, the bad and the ugly. J Feline Med Surg 17:203–219

    Article  PubMed  Google Scholar 

  • Martin DR, Krum BK, Varadarajan GS, Hathcock TL, Smith BF, Baker HJ (2004) An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol 187:30–37

    Article  CAS  PubMed  Google Scholar 

  • Mauser AE, Whitlark J, Whitney KM, Lothrop CD (1996) A deletion mutation causes hemophilia B in Lhasa Apso dogs. Blood 88:3451–3455

    Article  CAS  PubMed  Google Scholar 

  • Mellersh C (2012) DNA testing and domestic dogs. Mamm Genome 23:109–123

    Article  PubMed  Google Scholar 

  • Mellersh C (2016) DNA testing man’s best friend: roles and responsibilities. Vet J 207:10–12

    Article  PubMed  Google Scholar 

  • Minor KM, Patterson EE, Keating MK et al (2011) Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds. Vet J 189:214–219

    Article  PubMed  Google Scholar 

  • Mischke R, Wilhelm C, Czwalinna A, Varvenne M, Narten K, von Depka M (2011a) Canine haemophilia A caused by a mutation leading to a stop codon. Vet Rec 169:496

    Article  Google Scholar 

  • Mischke R, Kühnlein P, Kehl A et al (2011b) G244E in the canine factor IX gene leads to severe haemophilia B in Rhodesian Ridgebacks. Vet J 187:113–118

    Article  CAS  PubMed  Google Scholar 

  • Muldoon LL, Neuwelt EA, Pagel MA, Weiss DL (1994) Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am J Pathol 144:1109–1118

    CAS  PubMed  PubMed Central  Google Scholar 

  • Nicholas FW, Crook A, Sargan DR (2011) Internet resources cataloguing inherited disorders in dogs. Vet J 189:132–135

    Article  PubMed  Google Scholar 

  • Ogawa M, Uchida K, Park ES et al (2011) Immunohistochemical observation of canine degenerative myelopathy in two Pembroke Welsh Corgi dogs. J Vet Med Sci 73:1275–1279

    Article  PubMed  Google Scholar 

  • Online Mendelian Inheritance in Animals (OMIA©) (2020) Sydney School of Veterinary Science. https://www.OMIA.org. Accessed Jan 2021

  • Online Mendelian Inheritance in Man, OMIM (2019) McKusick-Nathans Institute of Genetic Medicine, John Hopkins University. https://www.omim.org. Accessed Jan 2021

  • Orthopedic Foundation for Animals, OFA (2020). https://www.ofa.org. Accessed Jan 2021

  • Ostrander EA, Wayne RK, Freedman AH, Davis BW (2017) Demographic history, selection and functional diversity of the canine genome. Nat Rev Genet 18:105–720

    Article  CAS  Google Scholar 

  • RStudio Team (2020) RStudio: integrated development for R. RStudio, PBC, Boston, MA. http://www.rstudio.com. Accessed Dec 2020

  • Shaffer LG, Sundin K, Geretschlaeger A et al (2019a) Standards and guidelines for canine clinical genetic testing laboratories. Hum Genet 138:493–499

    Article  CAS  PubMed  Google Scholar 

  • Shaffer LG, Geretschlaeger A, Ramirez CJ et al (2019b) Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines. Hum Genet 138:501–508

    Article  PubMed  PubMed Central  Google Scholar 

  • Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U (1999) Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res 60:1169–1172

    CAS  PubMed  Google Scholar 

  • Slutsky J, Raj K, Yuhnke S, Bell J, Fretwell N, Hedhammar A, Wade C, Giger U (2013) A web resource on DNA tests for canine and feline hereditary diseases. Vet J 197:182–187

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Stenson PD, Mort M, Ball EV et al (2017) The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665–677

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Switonski M (2020) Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet 61:179–186

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Takanosu M, Takanosu T, Suzuki H, Suzuki K (2008) Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. J Small Anim Pract 49:197–199

    Article  CAS  PubMed  Google Scholar 

  • The International Cat Association, TICA (2020). https://www.tica.org. Accessed Jan 2021

  • Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA (2019) The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). McGraw Hill, New York

    Google Scholar 

  • Winn Feline Foundation (2020). https://www.winnfelinefoundation.org. Accessed Jan 2021

  • WSAVA-PennGen DNA Testing Database (2021). http://research.vet.upenn.edu/WSAVA-LabSearch. Accessed Jan 2021

  • Zheng K, Thorner PS, Marrano P et al (1994) Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV. Proc Natl Acad Sci USA 91:3989–3993

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

The contributions by the staff of all the laboratories as well as the many colleagues who provided invaluable information regarding testing and disease are greatly appreciated. We also thank Leslie King, PhD for careful editing assistance.

Funding

Supported in part by Mars, PennGen, and World Small Animal Veterinary Association (WSAVA) as well as the National Institutes of Health (NIH OD 010939).

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Author notes

  1. Jennifer L. Rokhsar and J. Canino contributed equally.

Authors and Affiliations

  1. Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA

    Jennifer L. Rokhsar, Julia Canino, Karthik Raj, Scott Yuhnke, Jeffrey Slutsky & Urs Giger

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  1. Jennifer L. Rokhsar
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  2. Julia Canino
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  3. Karthik Raj
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  6. Urs Giger
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Contributions

All the authors made substantial contributions to conception and design, acquisition and extraction of data and for analysis and interpretation of the results. Each author agrees to be accountable for all aspects of the accuracy or integrity of the work. Specifically, UG developed the concept, JLR and JC gathered and entered the information, JLR and KR verified the gene variants, JLR, JC, KR, JS, and SY maintained the web-based resource, JLR, JC, and UG reviewed and analyzed the data and wrote the first drafts of the manuscript, and all the authors contributed and approved the final manuscript.

Corresponding author

Correspondence to Urs Giger.

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Conflict of interest

The authors are or were associated with the academic PennGen Laboratories which offer DNA, metabolic, and hematological testing for certain hereditary diseases in dogs and cats.

Data availability statement

The datasets generated and analyzed are available upon request from the authors.

Animal use approval

Not applicable as neither animals nor tissue samples were used in this study.

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Rokhsar, J.L., Canino, J., Raj, K. et al. Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update. Hum Genet 140, 1505–1515 (2021). https://doi.org/10.1007/s00439-021-02256-5

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