Towards mapping the genetic cause of polydactyly in a miniature Shetland pony family : Kartläggning av den genetiska orsaken till polydaktyli genom analys av helgenomssekvensdata från rasen miniatyr shetlandsponny

Sammanfattning: Polydactyly is a vertebrate developmental condition characterized by the presence of supernumerary digits. Its manifestation and severity can vary, ranging from cosmetic to debilitating, and it is commonly inherited in a dominant manner. The present study investigates a family of miniature Shetland ponies exhibiting a rare case of polydactyly, which appears to be inherited recessively and is accompanied by limb deformities. To shed light on the genetic basis of this observed phenotype, bioinformatic analyses were conducted on the whole genome sequences of five family members (consisting of one stallion, two mares, and two foals), along with several samples from healthy controls. The aim was to compare and contrast their genomes, in order to identify the mutation responsible for this change in development. Although these analyses succeeded in narrowing down the potential variations from millions to thousands, the limited number of samples proved inadequate to definitively pinpoint the precise genetic change underlying this distinct form of polydactyly.