Gene Responsible for Screw Tail in Dogs Linked to Rare Human Disease

January 9, 2019

Rare Daily Staff

Researchers at the University of California Davis have found a genetic connection between so-called screwtail breed dogs with a gene that causes a rare genetic disease in humans known as Robinow syndrome.

Robinow syndrome is a rare inherited disorder in humans characterized by anatomical changes that include a short, wide “babyface,” short limbs, and spinal deformities. The genetic mutation that causes the condition has been linked to a gene that is shared with bulldogs, French bulldogs, and Boston terriers, and is responsible for the screw tail in these dogs.

The discovery of the link opens the possibilities of these dogs serving as an animal model for the Robinow syndrome, condition.

The researchers performed whole genome sequencing on 100 dogs, including 10 from screwtail breeds. All the participating dogs were privately owned pets seen at the UC Davis Veterinary Medical Teaching Hospital, whose owners agreed to participate.

From more than 12 million individual genetic differences they were able to identify one mutation, in a gene called DISHEVELLED 2 or DVL2. This variant was found in 100 percent of the bulldogs and French bulldogs sampled and was very common in Boston terriers.

Mutations in the related DVL1 and DVL3 genes are known to cause Robinow syndrome and causes similar anatomical changes, such as short limbs and facial characteristics. Robinow patients and the screwtail breeds also share other disease traits, such as cleft palate.

In both humans and dogs, DVL genes are part of a signaling pathway called WNT, which is involved in development of the skeleton and nervous system, among other things. By characterizing the screwtail DVL2 protein product, researchers identified a biochemical step in the WNT pathway that is disrupted by the mutation. They said the finding suggests that a common molecular defect is responsible for the distinct appearances of both Robinow patients and screwtail dog breeds.

The findings were published in the journal PLOS Genetics.

January 9, 2019
Photo: Moxie, a participant in the UC Davis study

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