Details

Title

Prevalence of the SOD1, PRCD and SLC2A9 gene mutations responsible for degenerative myelopathy, progressive rod-cone degeneration, and hyperuricosuria in Polish population of Labrador Retriever dogs

Journal title

Polish Journal of Veterinary Sciences

Yearbook

2025

Volume

vol. 28

Issue

No 3

Authors

Affiliation

Rogalska-Niznik, N. : Department of Genetics and Animal Breeding, Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland, Wołyńska 33, 60-637 Poznań, Poland ; Nowacka-Woszuk, J. : Department of Genetics and Animal Breeding, Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland, Wołyńska 33, 60-637 Poznań, Poland ; Switonski, M. : Department of Genetics and Animal Breeding, Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland, Wołyńska 33, 60-637 Poznań, Poland

Keywords

dog ; canine ; Labrador Retriever ; monogenic disease ; PRCD ; SCL2A9 ; SOD1

Divisions of PAS

Nauki Biologiczne i Rolnicze

Coverage

471–474

Publisher

Polish Academy of Sciences Committee of Veterinary Sciences ; University of Warmia and Mazury in Olsztyn

Bibliography

Donner J, Anderson H, Davison S, Hughes AM, Bouirmane J, Lindqvist J, Lytle KM, Ganesan B, Ottka C, Ruotanen P, Kaukonen M, Forman OP, Fretwell N, Cole CA, Lohi H (2018) Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet 14: e1007361.

Donner J, Freyer J, Davison S, Anderson H, Blades M, Honkanen L, Inmam L, Brookhart-Knox CA, Louviere A, Forman OP, Chodroff Foran R (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet 19: e1010651.

Karmi N, Brown EA, Hughes SS. McLaughlin B, Mellersh CS, Biourge V, Bannasch DL (2010) Estimated Frequency of the Canine Hyperuricosuria Mutation in Different Dog Breeds J Vet Intern Med 24: 1337-1342.

Mandriolli L, Gandini G, Gentilini F, Chiocchetti R, Turba ME, Avallone G, Pellegrino V, Menchetti M, Kobatake Y, Kamishina H, Cantile C (2020) Degenerative myelopathy in Hovawart dogs: molecular characterization, pathological features and accumulation of mutant superoxide dismutase 1 protein. J Comp Path 182: 37-42.

Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, Wiriyasermkul P, Kikuchi Y, Oda T, Nishiyama J, Nakamura T, Morimoto Y, Kamakura K, Sakurai Y, Nonoyama S, Kanai Y, Shinomiya N (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 83: 744-751.

Santos CRO, Gouveia JJS, Gouveia GV, Bezerra FCM, Nogueira JF, Barauna Junior D (2020) Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. PLoS One 15: e0242347.

Turba ME, Loechel R, Rombola E, Gandini G, Gentilini F (2017) Evidence of a genomic insertion in intron 2 of SOD1 causing allelic drop-out during routine diagnostic testing for canine degenerative myelopathy. Anim Genet 48: 365-368.

Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD (2006) Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88: 551-563.

 

 

Date

16.09.2025

Type

Article

Identifier

DOI: 10.24425/pjvs.2025.156073
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