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| Author(s): |
Danilo Giorgi Abranches de Andrade
Total Authors: 1
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| Document type: | Doctoral Thesis |
| Press: | Botucatu. 2020-09-01. |
| Institution: | Universidade Estadual Paulista (Unesp). Faculdade de Medicina Veterinária e Zootecnia. Botucatu |
| Defense date: | 2020-08-13 |
| Advisor: | José Paes de Oliveira Filho |
| Abstract | |
In Miniature horses, chondrodysplastic dwarfism has an autosomal recessive inheritance pattern and four causative variants (D1, D2, D3* and D4) in the aggrecan (ACAN) gene have been described previously. Homozygous or compound heterozygotes animals for these variants present the disorder. The general aims of this study were to verify the mutations already described and to investigate other possible variant(s) related to chondrodysplastic dwarfism in Miniature horses; in addition, to estimate the allelic frequency of the mutations. The mRNA of the ACAN gene was sequenced, and after comparing the affected animals and their parents, it was suggested that the single nucleotide polymorphism (SNP) c.6465A>T (g.95271115A>T; p.L2155F – RefSeq XM_005602799.2; XP_005602856.2 – EquCab3.0) could be potentially associated with dwarfism not yet described in the literature. Genetic test based in polymerase chain reaction (PCR) and Sanger sequencing for the five variants in 347 phenotypically normal Miniature horses, as well as the in silico protein structure study potentially associated c.6465A>T with dwarfism. Study in large sized horses showed the presence of the SNP in heterozygosis and two Mangalarga Marchador horses presented it in homozygosis. In the studied population of phenotypically normal Miniature horses (n=347), the combined frequency of D1, D2, D3*, D4 and c.6465A>T was 0.392, suggesting a heterozygous rate of 47.7%. Complex interactions in the Miniature horse genome could contribute to association of c.6465A>T with chondrodysplastic dwarfism or it could be a marker in linkage disequilibrium with a causative variant not yet identified. (AU) | |
| FAPESP's process: | 16/24025-0 - Evaluation of causative mutations of chondrodysplasia-like dwarfism in the Miniature Horse in Brazil |
| Grantee: | Danilo Giorgi Abranches de Andrade |
| Support Opportunities: | Scholarships in Brazil - Doctorate |