Epsilon Archive for Student Projects

Abstract

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.