Description of the D4/D4 genotype in Miniature horses with dwarfism

Registro completo de metadados
MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.creatorAndrade, Danilo G. A. [UNESP]-
Autor(es): dc.creatorBasso, Roberta M. [UNESP]-
Autor(es): dc.creatorCastiglioni, Maria C. R. [UNESP]-
Autor(es): dc.creatorSilva, Jeana P. [UNESP]-
Autor(es): dc.creatorMachado, Vânia M. V. [UNESP]-
Autor(es): dc.creatorLaufer-Amorim, Renée [UNESP]-
Autor(es): dc.creatorBorges, Alexandre S. [UNESP]-
Autor(es): dc.creatorOliveira-Filho, José P. [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:28:47Z-
Data de disponibilização: dc.date.available2022-02-22T00:28:47Z-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2019-12-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1177/1040638719898164-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/199922-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/199922-
Descrição: dc.descriptionFour causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the disproportionate dwarfism phenotype. However, no case description of homozygotes for D4 (D4/D4) has been reported in the literature, to our knowledge. We report 2 Miniature horses with the genotype D4/D4 in the ACAN gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in the proximal region of the metatarsal bones. Radiographic examination revealed contour irregularities of the subchondral bone in the long bones and confirmed mandibular prognathism; histopathology revealed irregular chondrocyte organization. To determine the genotypes of the horses, we performed DNA extraction from white blood cells, PCR, and Sanger sequencing. Genotyping demonstrated that these 2 animals had the D4/D4 genotype in the ACAN gene. The D4/D4 dwarfs were clinically similar to animals with the other ACAN genotypes reported for this disease. Identification of heterozygous animals makes mating selection possible and is the most important control measure to minimize economic losses and casualties.-
Descrição: dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)-
Descrição: dc.descriptionSão Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science-
Descrição: dc.descriptionSão Paulo State University (Unesp) School of Veterinary Medicine and Animal Science Department of Veterinary Clinical Science-
Descrição: dc.descriptionFAPESP: 2016/24025-0-
Descrição: dc.descriptionFAPESP: 2016/24767-7-
Descrição: dc.descriptionFAPESP: 2018/11365-3-
Formato: dc.format99-102-
Idioma: dc.languageen-
Relação: dc.relationJournal of Veterinary Diagnostic Investigation-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectaggrecan-
Palavras-chave: dc.subjectchondrodysplasia-
Palavras-chave: dc.subjectdwarfism-
Palavras-chave: dc.subjectequine-
Título: dc.titleDescription of the D4/D4 genotype in Miniature horses with dwarfism-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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