Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil

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dc.contributor.authorTrecenti-Santana, Anelize Souza [UNESP]
dc.contributor.authorGuiraldelli, Giulia Gumiero [UNESP]
dc.contributor.authorAlbertino, Lukas Garrido [UNESP]
dc.contributor.authorFerreira, Julia Franco [UNESP]
dc.contributor.authorAndrade, Fabiana Michelsen
dc.contributor.authorBorges, Alexandre Secorun [UNESP]
dc.contributor.authorOliveira-Filho, José Paes [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionFederal University of Rio Grande do Sul (UFRGS)
dc.date.accessioned2023-07-29T16:06:20Z
dc.date.available2023-07-29T16:06:20Z
dc.date.issued2022-10-17
dc.description.abstractProgressive retinal atrophy (PRA) is a term used in veterinary medicine to describe inherited and progressive retinal diseases characterized by progressive retinal degeneration and loss of vision. In the Golden Retriever (GR) breed, the mutations associated with PRA have an autosomal recessive inheritance pattern. This study aimed to verify the allele frequencies of PRA1, PRA2, and PRA-prcd in the GR breed in Brazil. A total of 121 GR DNA samples (n = 66 females and n = 55 males) were analyzed. All animals assessed in this study were identified as wild-type (121/121 animals; 100%) for PRA1 and PRA2 mutations; therefore, no carrier or homozygous animals were identified in this population. For the PRA-prcd mutation, 118 animals (118/121 animals; 97.52%) were wild-type. Three animals were genotyped as heterozygous for PRA-prcd (3/121 animals; 2.47%), demonstrating that this mutation is still present in some bloodlines and animals in Brazil, even with a rare prevalence. Five animals (5/121 animals, 4.2%) had a previous eye disease, which was diagnosed by a veterinarian as entropion (2 animals), keratoconjunctivitis sicca (1 animal), corneal ulcer (1 animal), and bilateral blindness (1 animal). This dog with bilateral blindness was identified as wild type homozygous for three mutations assessed in this study; therefore, blindness was not associated with the investigated mutations. In addition, the vast majority (98.3%) of Brazilian breeders assessed in this study were unaware of these mutations as a cause of blindness in the Golden Retriever. Therefore, the present study will serve to disseminate knowledge about PRA and its genetic etiologies, as well as to support future studies with other Brazilian GR populations.en
dc.description.affiliationSchool of Veterinary Medicine and Animal Science São Paulo State University (UNESP)
dc.description.affiliationZootechnics Department School of Agronomy Federal University of Rio Grande do Sul (UFRGS)
dc.description.affiliationUnespSchool of Veterinary Medicine and Animal Science São Paulo State University (UNESP)
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIdFAPESP: 20/15284-8
dc.identifierhttp://dx.doi.org/10.3389/fvets.2022.973854
dc.identifier.citationFrontiers in Veterinary Science, v. 9.
dc.identifier.doi10.3389/fvets.2022.973854
dc.identifier.issn2297-1769
dc.identifier.scopus2-s2.0-85148570880
dc.identifier.urihttp://hdl.handle.net/11449/249681
dc.language.isoeng
dc.relation.ispartofFrontiers in Veterinary Science
dc.sourceScopus
dc.subjectcanine PRA
dc.subjectDNA sequence analysis
dc.subjectgenetic disease
dc.subjectloss of vision
dc.subjectprevalence study
dc.subjectretinal diseases
dc.titleAllele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazilen
dc.typeArtigo

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