Science  20 Jan 2012:
Vol. 335, Issue 6066, pp. 271
  1. Common Origin for Dog and Human Skin Disorders


    Some skin diseases in humans and those iconic pooches, golden retrievers, appear to share a common genetic origin. In golden retrievers, as well as the more twee Jack Russell and Norfolk terriers, the disorders, types of ichthyosis, have cropped up more and more, likely due to inbreeding. The canine conditions resemble a cluster of maladies in people that often cause the skin to form scaly patches. While these diseases are rare in humans—one form, called Harlequin ichthyosis, occurs so seldom that scientists can't even estimate its prevalence—they can be fatal.

    Researchers report online 15 January in Nature Genetics that the human diseases and the more common golden retriever variants stem from similar mutations. The scientists first sequenced the genomes of ichthyosis-affected and healthy golden retrievers. In the dogs, ichthyosis seemed to stem from mutations in a gene called PNPLA1. Six people with ichthyosis also carried mutations on both copies of that gene. PNPLA1 produces a protein that helps to break down fats, an important process in forming cellular membranes. Indeed, the research team spotted abnormal cell membranes in skin biopsies taken from several afflicted dogs and one person.

Log in to view full text

Log in through your institution

Log in through your institution

Navigate This Article