Clinical and molecular study of chondrodysplasia-like dwarfism in the Miniature Horse in Brazil

• Grant number: 16/24767-7
• Support Opportunities: Regular Research Grants
• Start date: April 01, 2017
• End date: March 31, 2019
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
• Principal Investigator: José Paes de Oliveira Filho
• Grantee: José Paes de Oliveira Filho
• Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil
• Associated researchers: Alexandre Secorun Borges

Abstract

Dwarfism is a form of abnormal development determined by genes which greatly reduce stature and may negatively impact health and reproduction. In horses, dwarfism is mainly described in the Miniature Horse. In this breed, four mutations that are independently segregated have been described in the Aggrecan gene, responsible for the chondrodysplasia-like dwarfism, an autosomal recessive disease. Recently, the genotyping of affected Miniature Horses and their parents from a herd at Sao Paulo state reinforced the hypothesis of the involvement of other mutations responsible for dwarfism in these animals besides those previously described. Therefore, the objectives of this project are: verify the already described mutations and to investigate other possible mutations related to chondrodysplasia-like dwarfism in the Brazilian Miniature Horse; estimate the allelic frequency of these mutations and describe the clinical, imaging and histopathological findings of the affected animals. For this, affected animals and phenotypically normal Miniature Horses from farms in the state of Sao Paulo will be used to carry out these evaluations. The dwarf animals will be subjected to physical and imaging exams, as well as necroscopic and histopathological exams, to describe their anatomy. The mRNA of the Aggrecan gene will be genotyped to verify the mutations already described and to investigate other possible mutations related to chondrodysplasia-like dwarfism. In the end, the description of the clinical signs and the mutations responsible for the disease will allow the adoption of control measures for new cases and will provide molecular tests for the disease to Brazilian breeders. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

ANDRADE, DANILO G. A.; BASSO, ROBERTA M.; CASTIGLIONI, MARIA C. R.; SILVA, JEANA P.; MACHADO, VANIA M. V.; LAUFER-AMORIM, RENEE; BORGES, ALEXANDRE S.; OLIVEIRA-FILHO, JOSE P.. Description of the D4/D4 genotype in Miniature horses with dwarfism. JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION, v. 32, n. 1, JAN 2020. (16/24767-7, 16/24025-0, 18/11365-3)

ABRANCHES DE ANDRADE, DANILO GIORGI; BASSO, ROBERTA MARTINS; MAGRO, ANGELO JOSE; LAUFER-AMORIM, RENEE; BORGES, ALEXANDRE SECORUN; DE OLIVEIRA-FILHO, JOSE PAES. Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses. SCIENTIFIC REPORTS, v. 10, n. 1, SEP 17 2020. (16/24025-0, 18/11365-3, 16/24767-7)

Filed patent(s) as a result of this research project