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Study of the aggrecan protein and cytokine pattern associated with dwarfism in Mini-horse breed in Brazil

Grant number: 18/11365-3
Support Opportunities:Scholarships in Brazil - Master
Start date: October 01, 2018
End date: October 31, 2020
Field of knowledge:Agronomical Sciences - Veterinary Medicine - Animal Clinics and Surgery
Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
Principal Investigator:José Paes de Oliveira Filho
Grantee:Roberta Martins Basso
Host Institution: Faculdade de Medicina Veterinária e Zootecnia (FMVZ). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Dwarfism is a developmental disorder characterized by abnormal body development, already reported in human and some domestic species such as canines, cattle, birds, rodents. The most striking features in horses with dwarfism are retarded fetal growth in limbs and ribs, disproportionate large skull, shortened legs, trunk or neck, and malformations in the skull, including palate or tongue fissures. Mutations in the gene encoding the aggrecan protein are responsible for several abnormalities in bone development, causing disproportionate dwarfism. In the Mini-Horse breed, the disease is autosomal recessive and involves the Aggrecan gene (ACAN) present in chromosome 1. Therefore, the aim of this work is to detect the presence of aggrecan glycoprotein in cartilage of Mini-Horses horses with dwarfism and correlation with cytokines of major importance in the development of the disease. For this, the quantification of the aggrecan protein will be performed by Western Blot technique and the cytokines will be measured by RT-qPCR using cartilage samples from eight Mini-Horse horses with dwarfism.

News published in Agência FAPESP Newsletter about the scholarship:
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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)
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, . (16/24025-0, 18/11365-3, 16/24767-7)
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, . (16/24767-7, 16/24025-0, 18/11365-3)
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
BASSO, Roberta Martins. Study of the aggrecan proteoglycan and cytokine pattern associated with dwarfism in Mini-Horse breed in Brazil. 2020. Master's Dissertation - Universidade Estadual Paulista (Unesp). Faculdade de Medicina Veterinária e Zootecnia. Botucatu Botucatu.