{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:14:26Z","timestamp":1778285666233,"version":"3.51.4"},"reference-count":15,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T00:00:00Z","timestamp":1571616000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["423519\/2016-6"],"award-info":[{"award-number":["423519\/2016-6"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["100232\/2018-3"],"award-info":[{"award-number":["100232\/2018-3"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Progressive retinal atrophy (PRA) due to the c.5G&gt;A mutation in the progressive rod\u2013cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G&gt;A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8\/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.<\/jats:p>","DOI":"10.3390\/ani9100844","type":"journal-article","created":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T11:37:55Z","timestamp":1571657875000},"page":"844","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Allele Frequency of the C.5G&gt;A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6753-9121","authenticated-orcid":false,"given":"Larissa R.","family":"Andrade","sequence":"first","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda M.","family":"Caceres","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anelize S.","family":"Trecenti","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia Valeria S.","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micaella G.","family":"Gandolfi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evian V.","family":"Aguiar","sequence":"additional","affiliation":[{"name":"S\u00e3o Paulo State University (Unesp), Medical School, Botucatu 18618-687, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0305-4154","authenticated-orcid":false,"given":"Danilo G.A.","family":"Andrade","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre S.","family":"Borges","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9890-2640","authenticated-orcid":false,"given":"Jose P.","family":"Oliveira-Filho","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, S\u00e3o Paulo State University (Unesp), Botucatu 18618-681, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/2052-6687-1-3","article-title":"The genetics of eye disorders in the dog","volume":"1","author":"Mellersh","year":"2014","journal-title":"Canine Genet. Epidemiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/vop.12122","article-title":"Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds","volume":"17","author":"Downs","year":"2014","journal-title":"Vet. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1007\/s00335-011-9361-3","article-title":"Genetic and phenotypic variations of inherited retinal diseases in dogs: The power of within- and across-breed studies","volume":"23","author":"Miyadera","year":"2012","journal-title":"Mamm. Genome"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ygeno.2006.07.007","article-title":"Identical mutation in a novel retinal gene causes progressive rod\u2013cone degeneration in dogs and retinitis pigmentosa in humans","volume":"88","author":"Zangerl","year":"2006","journal-title":"Genomics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1746-6148-3-1","article-title":"The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9","volume":"3","author":"Sargan","year":"2007","journal-title":"BMC Vet. Res."},{"key":"ref_6","unstructured":"Maggs, D.J., Miller, P.E., and Ofri, R. (2012). Breed predisposition to eye disorders. Slatter\u2019s Fundametals of Veterinary Ophthalmology, Saunders. [4th ed.]."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1939-1676.2000.tb01492.x","article-title":"Companion animal medicine in the age of medical genetics","volume":"14","author":"Patterson","year":"2000","journal-title":"J. Vet. Intern. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1177\/104063870902100515","article-title":"Real-time detection of the mutation responsible for progressive rod\u2013cone degeneration in Labrador Retriever dogs using locked nucleic acid TaqMan probes","volume":"21","author":"Gentilini","year":"2009","journal-title":"J. Vet. Diagn. Invest."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"243","DOI":"10.17221\/1564-VETMED","article-title":"Progressive rod\u2013cone degeneration (PRCD) in selected dog breeds and variability in its phenotypic expression","volume":"56","author":"Dostal","year":"2011","journal-title":"Vet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1590\/S0100-736X2010000200009","article-title":"Full field electroretinogram in English Cocker Spaniels presenting cataracts","volume":"30","author":"Safatle","year":"2010","journal-title":"Pesq. Vet. Bras."},{"key":"ref_11","first-page":"1","article-title":"Involvement of PRCD and RPGR Genes in Progressive Retinal Atrophy in Locally Bred Canines","volume":"5","author":"Dave","year":"2014","journal-title":"J. Mol. Biomark. Diagn."},{"key":"ref_12","unstructured":"Dean, A.G., Sullivan, K.M., and Soe, M.M. (2019, September 08). Open Source Epidemiologic Statistics for Public Health. Available online: https:\/\/www.scienceopen.com\/document?vid=61cdd360-9883-4330-8c18-3f0341b0f715."},{"key":"ref_13","unstructured":"Garbe, J.R., and Da, Y. (2019, September 08). Pedigraph: A Software Tool for the Graphing and Analysis of Large Complex Pedigree. Available online: https:\/\/animalgene.umn.edu\/pedigraph."},{"key":"ref_14","unstructured":"Gelatt, K.N., Gilger, B.C., and Kern, T.J. (pp. 1303\u20131392). Diseases of the Canine Ocular Fundus. Veterinary Ophthalmology, Wiley-Blackwell. [5th ed.]."},{"key":"ref_15","first-page":"343","article-title":"Electroretinography in dogs and cats. Part, I. Retinal morphology and physiology","volume":"20","author":"Smith","year":"1998","journal-title":"Compend. Contin. Educ. Pract. Vet."}],"container-title":["Animals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-2615\/9\/10\/844\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:28:10Z","timestamp":1760189290000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-2615\/9\/10\/844"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,21]]},"references-count":15,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2019,10]]}},"alternative-id":["ani9100844"],"URL":"https:\/\/doi.org\/10.3390\/ani9100844","relation":{},"ISSN":["2076-2615"],"issn-type":[{"value":"2076-2615","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,21]]}}}