UC Davis School of Veterinary Medicine researchers have identified the genetic mutation responsible for a form of cleft palate in the dog breed Nova Scotia Duck Tolling Retrievers.
They hope that the discovery, which provides the first dog model for the craniofacial defect, will lead to a better understanding of cleft palate in humans. Although cleft palate is one of the most common birth defects in children, affecting approximately one in 1,500 live human births in the United States, it is not completely understood.
By conducting a genome-wide study of this breed with a naturally occurring cleft palate, researchers identified a mutation responsible for the development of cleft palate. Dogs with this mutation also have a shortened lower jaw, similar to humans who have Pierre Robin Sequence. The disorder, a subset of cleft palate, affects one in 8,500 live human births and is characterized by a cleft palate, shortened lower jaw and displacement of the tongue base.
Cleft palate condition occurs when there is a failure in the formation of the secondary palate, which makes up all of the soft palate and the majority of the hard palate.
The team have published their study in the journal PLOS Genetics.
Source: UC Davis media release