{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:19:40Z","timestamp":1758190780900,"version":"3.44.0"},"reference-count":1,"publisher":"Polish Academy of Sciences Chancellery","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Knowledge of the molecular background of hereditary diseases facilitates the unambiguous diagnosis of affected animals and the identification of healthy carriers, which is particularly important from a breeding perspective. To date 330 canine diseases with at least one known causative variant have been described. Degenerative myelopathy (DM), caused by a mutation in the SOD1 gene; progressive rod-cone degeneration (PRCD), caused by a mutation in the PRCD gene; and hyperuricosuria (HUU), caused by a mutation in the SLC2A9 gene, are among the most common monogenic autosomal recessive diseases identified in numerous dog breeds; however, their incidence varies significantly among breeds. The Labrador Retriever is a popular breed in Poland, and it was assumed that the known causative DNA variants for these three diseases are also present in its gene pool. The aim of this study was to analyze the distribution of these causal mutations in the Polish population of this breed. In total, 200 dogs were studied using Sanger sequencing. Among them, 32 carriers (16%) and 4 affected individuals (2%) were identified for PRCD, and 2 carriers (1%) were identified for HUU, while all studied dogs were free of the SOD1 mutation. The results obtained were compared with data for over 16,800 Labrador Retrievers published by Donner et al. (2023). We concluded that the frequency of the causal mutation responsible for DM in the Polish population is lower, while the frequencies of the causative variants for PRCD (0.01) and HUU (0.005) are slightly higher.<\/jats:p>","DOI":"10.24425\/pjvs.2025.156073","type":"journal-article","created":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T08:27:58Z","timestamp":1758097678000},"page":"471-471","source":"Crossref","is-referenced-by-count":0,"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"],"prefix":"10.24425","author":[{"given":"N.","family":"Rogalska-Niznik","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding, Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland, Wo\u0142y\u0144ska 33, 60-637 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Nowacka-Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding, Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland, Wo\u0142y\u0144ska 33, 60-637 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding, Faculty of Veterinary Medicine and Animal Science, Poznan University of Life Sciences, Poland, Wo\u0142y\u0144ska 33, 60-637 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"37468","published-online":{"date-parts":[[2025,9,16]]},"reference":[{"key":"ref0","unstructured":"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 &gt; 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. &nbsp; &nbsp;"}],"container-title":["Polish Journal of Veterinary Sciences"],"original-title":[],"language":"pl","link":[{"URL":"https:\/\/journals.pan.pl\/Content\/136426\/PDF-MASTER\/13%20_%20Rogalska-Niznik%20_%20Short.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T09:39:56Z","timestamp":1758101996000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.pan.pl\/dlibra\/publication\/156073\/edition\/136426\/content"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,16]]},"references-count":1,"URL":"https:\/\/doi.org\/10.24425\/pjvs.2025.156073","relation":{},"ISSN":["1505-1773"],"issn-type":[{"value":"1505-1773","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9,16]]}}}