Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses

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Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.creatorde Andrade, Danilo Giorgi Abranches [UNESP]-
Autor(es): dc.creatorBasso, Roberta Martins [UNESP]-
Autor(es): dc.creatorMagro, Angelo José [UNESP]-
Autor(es): dc.creatorLaufer-Amorim, Renée [UNESP]-
Autor(es): dc.creatorBorges, Alexandre Secorun [UNESP]-
Autor(es): dc.creatorde Oliveira-Filho, José Paes [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:35:26Z-
Data de disponibilização: dc.date.available2022-02-22T00:35:26Z-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-11-30-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1038/s41598-020-72192-3-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/202107-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/202107-
Descrição: dc.descriptionChondrodysplastic dwarfism in Miniature horses is an autosomal recessive disorder previously associated with four mutations (D1, D2, D3*, and D4) in the aggrecan (ACAN) gene. The aim of this study was to identify additional variants in the candidate ACAN gene associated with chondrodysplastic dwarfism in Miniature horses. Fifteen dwarf Miniature horses were found to possess only one of the dwarfism-causing variants, and two possessed none of the variants. The ACAN exons (EquCab3.0) of seven dwarf Miniature horses were sequenced. A missense SNP in coding exon 11 (g.95271115A > T, c.6465A > T—RefSeq XM_005602799.2), which resulted in the amino acid substitution p.Leu2155Phe (RefSeq XP_005602856.2), was initially associated with the dwarf phenotype. The variant was tested and found present in 14 dwarf foals as well as one parent of each, and both parents of a dwarf possessing two copies. Genetic testing of 347 phenotypically normal Miniature horses demonstrated that none had more than one of the dwarf alleles or c.6465A > T. However, a study of large breeds revealed the presence of c.6465A > T, which was present in homozygosis in two Mangalarga Marchador horses. We suggest that c.6465A > T as a marker of disequilibrium or complex interactions in the Miniature horse genome could contribute to the associated dwarfism.-
Descrição: dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)-
Descrição: dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)-
Descrição: dc.descriptionSchool of Veterinary Medicine and Animal Science São Paulo State University (Unesp)-
Descrição: dc.descriptionInstitute for Biotechnology São Paulo State University (Unesp)-
Descrição: dc.descriptionSchool of Agriculture São Paulo State University (Unesp)-
Descrição: dc.descriptionSchool of Veterinary Medicine and Animal Science São Paulo State University (Unesp)-
Descrição: dc.descriptionInstitute for Biotechnology São Paulo State University (Unesp)-
Descrição: dc.descriptionSchool of Agriculture São Paulo State University (Unesp)-
Descrição: dc.descriptionFAPESP: 2016/24025-0-
Descrição: dc.descriptionFAPESP: 2016/24767-7-
Descrição: dc.descriptionFAPESP: 2018/11365-3-
Descrição: dc.descriptionCNPq: 307686/2018-3-
Idioma: dc.languageen-
Relação: dc.relationScientific Reports-
???dc.source???: dc.sourceScopus-
Título: dc.titleEvaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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