Genetic Characterization of Congenital Defects in Dogs: Caudal Dysplasia, Ectodermal Dysplasia, and Mucopolysaccharidosis VII

    September 2013 in “ Helda (University of Helsinki) ”
    Marjo K. Hytönen
    TLDR Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
    This study investigated the genetics of three inherited developmental defects in dogs: caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, which have human counterparts. For caudal dysplasia, a mutation in the T gene was linked to short-tail phenotype in 17 dog breeds, with homozygous mutations being lethal. Ectodermal dysplasia was linked to a 7-bp duplication in the FOXI3 gene, affecting hair and tooth formation. In Brazilian Terriers, mucopolysaccharidosis VII was caused by a mutation in the GUSB gene. The study highlighted the use of dogs as models for human diseases, identified new genetic pathways, and developed genetic tests for breeding purposes.
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