US researchers have identified the genetic mutation responsible for a form of cleft palate in the dog breed Nova Scotia Duck Tolling Retrievers.1
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.
By conducting a genome-wide study of these particular retrievers with a naturally occurring cleft palate, researchers identified a mutation responsible for the development of cleft palate in the breed. 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 characterised by a cleft palate, shortened lower jaw and displacement of the tongue base.
The findings are online at https://tinyurl.com/knr8wb3.
References
Wolf Z T, Leslie E J, Arzi B et al. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin Sequence. PLoS Genet 2014; 10: e1004257.
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Dogs may aid understanding of cleft palate. Br Dent J 216, 444 (2014). https://doi.org/10.1038/sj.bdj.2014.319
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DOI: https://doi.org/10.1038/sj.bdj.2014.319