Common genetic basis of skin disorder in golden retrievers and humans

A rare skin disorder seen in golden retriever dogs and humans shares a common genetic basis, reports a study published online this week in Nature Genetics. The condition, called congenital ichthyosis, results in generalized scaling of the skin beginning shortly after birth. Catherine Andre, Judith Fischer and colleagues took advantage of the unique breeding history of dog populations to identify the genetic defect responsible for this skin disorder in golden retriever dogs. They then analyzed the related gene, called PNPLA1, in a collection of human subjects with a similar skin disorder and identified six individuals from two families carrying two disrupted copies of this gene. PNPLA1 is expressed in the epidermal layer of the skin and appears to be important for maintaining the skin’s barrier function. It belongs to a family of proteins that modify the structure of lipids, including the class of lipids that form the outer membrane of cells.