Dr. Carrie Finno provides a comprehensive overview of genetic research in horses, focusing on malformations and diseases linked to specific genetic mutations. She covers various aspects such as the genetic basis of C6 and C7 malformations, genotype versus phenotype, inheritance patterns, and penetrance. The use of microsatellites, SNPs, GWAS, and whole genome sequencing is discussed in narrowing down genetic variations and identifying disease markers.
The importance of multi-generational family data, collaboration, and DNA sample collection is highlighted, emphasizing accurate phenotyping and owner consent for sample submission. The research delves into specific mutations found in quarter horses and thoroughbreds, like those causing immune-mediated myositis and hypocalcemia. Additionally, the role of HoxB genes and anatomical variations in different horse breeds are explored. Challenges in genetic testing, such as interpreting results and understanding penetrance, are also addressed.
Dr. Finno text underscores the impact of genetic defects on breeding, noting that breeders often prioritize desired traits over genetic conditions despite testing mandates. Overall, the discussion during the meeting highlighted the complexity of genetic disorders in horses and the collaborative efforts needed to advance genetic analysis, driven by industry importance and peer pressure.
- Rivas VN, Magdesian KG, Fagan S, Slovis NM, Luethy D, Javsicas LH, et al. (2020) A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals. PLoS Genet 16(9): e1009028. doi: 10.1371/journal.pgen.1009028
- Finno CJ, Gianino G, Perumbakkam S, et al. (2018) A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses. Skeletal Muscle 8:7. doi: 10.1186/s13395-018-0155-0
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