Understanding the Genetic Factors Associated with Forelimb Deformity
Vilma Yuzbasiyan-Gurkan, PhD, Michigan State University, D21CA-503
FINAL REPORT RESULTS: Researchers generate high-quality, long-read genomic assemblies of three Newfoundland dogs.
Morris Animal Foundation-funded researchers at Michigan State University generated high-resolution sequencing data on a Newfoundland dog affected by forelimb anomaly as well as on the dog's parents. The team is currently analyzing the data to look for variations that could be associated with the abnormality, with the ultimate goal of identifying a mutation that could form the basis of a genetic test for the disease.
Newfoundland dog forelimb anomaly is a deformity characterized by short stature and bowed, thickened front legs. Although early studies supported a simple recessive mode of inheritance, further research showed that disease manifestation is more complex.
Preliminary analysis revealed one genomic region of interest that contains a gene involved in bone and chondrogenesis, the process associated with cartilage development. Interestingly, this region is similar to a region on the long arm of chromosome 10 in humans, which contains a gene associated with spondyloepiphyseal dysplasia, a form of inherited chondrodysplasia that shares similarities to Newfoundland forelimb anomaly.
Long-read assemblies are becoming the backbone for understanding many genetic diseases which may result from not only coding variants, but, from structural changes in the genome. The data generated from this study will help identify both simple and complex genomic changes associated with Newfoundland forelimb anomaly as well as other diseases in the breed.
PRESENTATION:
Symposium, the 4th Precision Medicine Symposium at Michigan State University, “An Interesting and Unexplained Chondrodysplasia in Newfoundland Dogs. A Genomic Approach,” October 2022