French bulldogs give an insight into Robinow syndrome genetic disease

French bulldogs give an insight into Robinow syndrome genetic disease
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The ‘screwtail’ of French bulldogs, bulldogs and Boston terriers has been linked to the rare genetic disease Robinow syndrome in humans.

Researchers at the University of California- Davis School of Veterinary Medicine have discovered the genetic basis for the distinctive of French bulldogs, bulldogs and Boston terriers and linked this to the rare genetic disease Robinow syndrome in humans.

The appearance of French bulldogs

The popular breeds Bulldogs, French bulldogs and Boston terriers all have small bodies, wide-set eyes, and short, wide faces. They are not the only dog breeds with similar features. However, these three dogs breeds all share in common a distinctive feature – the ‘screwtail’. The three dog breeds lack the vertebrae that make up the tail bone, which gives them a short, kinked tail.

The researchers sequenced the whole genome, the entire DNA sequence, of 100 privately owned dogs, including 10 from screwtail breeds. They looked for the genetic changes associated with screwtail breeds.

How are the breeds linked to rare genetic disease?

They were able to identify one mutation associated with screwtail breeds of the dogs. The mutation is called DISHEVELLED 2, or DVL2. This gene variant was found in 100 percent of the bulldogs and French bulldogs sampled, and was very common in Boston terriers.

Mutations in the related genes DVL1 and DVL3 in humans are known to cause the rate genetic disease Robinow syndrome.

Robinow syndrome

Only a few hundred cases of Robinow syndrome have been documented since its identification in 1969.

The researchers say that understanding a common genetic mutation in popular dog breeds may provide more insight into the rare genetic disease Robinow syndrome in humans.

Professor Danika Bannasch, from the Department of Population Health and Reproduction in the UC Davis School of Veterinary Medicine, said: “It’s a very rare human disease but very common in dogs, so that could be a model for the human syndrome.”

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