gene variants as potential phenotype and performance biomarkers in Brazilian sport horses training for eventing in a tropical climate.

Can J Vet Res

Programa de Pós-Graduação em Medicina Veterinária (Clínica e Reprodução Animal), Universidade Federal Fluminense, Rua Vital Brasil Filho, 64-Vital Brasil, Niterói, Rio de Janeiro, Brazil 24230-340 (Padilha, Ferreira); Departamento de Genética e Biologia Molecular, Instituto Biomédico, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil (El-Jaick); Laboratório de Pesquisa em Farmacogenética, Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil (de Castro); Plataforma Genômica-Sequenciamento de DNA, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil (Moreira); Laboratório de Avaliação do Desempenho de Equinos, Escola de Equitação do Exército, Rio de Janeiro, Brazil (Padilha, de Almeida, Ferreira); Departamento de Medicina e Cirurgia Veterinária, Instituto de Veterinária, Universidade Federal Rural do Rio de Janeiro, Seropédica, Rio de Janeiro, Brazil (de Almeida); Laboratório de Biologia Molecular do Banco de Tecidos e Material Genético de Animais Silvestres e Domésticos, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil (Padilha, Ferreira); Departamento de Patologia e Clínica Veterinária, Universidade Federal Fluminense, Niterói, Rio de Janeiro, Brazil (Ferreira).

Published: July 2018

The aim of this study was to look for mutations in the equine gene and to identify sequence variants that might be associated with the phenotype and performance of Brazilian sport horses training for events in a tropical climate. Among 17 such horses direct DNA sequencing and mutation analysis of the exon 15 and the intron-exon boundaries of revealed 2 new sequence variants in the intron 14-15, designated c.1681-86G > A and c.1681-129delA. Wild-type/deletion heterozygotes (A/del) had a lower mean subcutaneous fat layer in the region of the gluteus medius, as measured by ultrasonography, than the del/del homozygotes; the correlation was significant ( = 0.017). This single base-pair deletion in intron 14-15 may have resulted in metabolic changes that led to increased deposition of body fat in the homozygous state. However, neither sequence variant was correlated with the time to fatigue in a test on a high-speed treadmill with an incremental-speed protocol.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040019PMC

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