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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

Full text
Author(s):
Andrade, Danilo G. A. [1] ; Basso, Roberta M. [1] ; Castiglioni, Maria C. R. [1] ; Silva, Jeana P. [1] ; Machado, Vania M. V. [1] ; Laufer-Amorim, Renee [1] ; Borges, Alexandre S. [1] ; Oliveira-Filho, Jose P. [1]
Total Authors: 8
Affiliation:
[1] Sao Paulo State Univ Unesp, Sch Vet Med & Anim Sci, Dept Vet Clin Sci, BR-18618681 Botucatu, SP - Brazil
Total Affiliations: 1
Document type: Journal article
Source: JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION; v. 32, n. 1 JAN 2020.
Web of Science Citations: 0
Abstract

Four 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. (AU)

FAPESP's process: 16/24767-7 - Clinical and molecular study of chondrodysplasia-like dwarfism in the Miniature Horse in Brazil
Grantee:José Paes de Oliveira Filho
Support Opportunities: Regular Research Grants
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
FAPESP's process: 18/11365-3 - Study of the aggrecan protein and cytokine pattern associated with dwarfism in Mini-horse breed in Brazil
Grantee:Roberta Martins Basso
Support Opportunities: Scholarships in Brazil - Master