nvestigation of variants responsible for cutaneous asthenia in Quarter Horse

• Grant number: 23/18268-1
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2024
• End date: August 31, 2026
• 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

Abstract

Based on a case study of a Quarter Horse stallion showing clinical and histological signs compatible with Ehlers-Danlos syndrome (EDS) of unknown genetic etiology, i.e., not associated with the PPIB_c.115G>A variant responsible for Hereditary Equine Regional Dermal Asthenia (HERDA), nor the PLOD1_c.2032G>A variant responsible for Warmblood Fragile Foal Syndrome type 1 (WFFS). These two diseases are the main genetic connective tissue disorders described in horses. In light of these findings, the aim of this study will be to investigate possible variants associated with cutaneous asthenia in this stallion. Therefore, candidate genes involved in cases of cutaneous asthenia in animals and in Ehlers-Danlos Syndrome in humans will be selected. PCR will be used to genotype the coding sequences (including exon-intron junctions) of the candidate genes by Sanger sequencing, standardized with DNA samples from healthy horses. Subsequently, these genes will be genotyped using the stallion's DNA in order to identify possible variants associated with the clinical condition. The variants found will be verified in the stallion's dam and a full sibling, as well as in the population of horses sampled in Brazil in this study. (AU)