Gene responsible for cleft palate is discovered during canine study

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Scientists at the University of California have identified the gene responsible for cleft palates and cleft lips in humans and our four-legged friends.

Just like us, cleft lip and cleft palate in dogs occur naturally with differing degrees of severity. The birth defects can also be caused by various genetic and environmental factors. As purebred dogs tend to breed only with another purebred of the same breed there is less genetic variation, that’s why the scientists used purebreds for this research.

The team compared the genes of dogs with cleft lips or palates to those without the birth defect. This enabled the team to locate the exact mutation in the gene (known as ADAMTS20) to cleft birth defects. This mutation caused the protein in encodes to be shortened by 75 per cent. Similar results in human studies suggest that mutations in the ADAMTS20 human gene, may also be the cause of cleft lips and palates.

The results from this genome-wide study were presented at the recent American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.

Zena Wolf, a graduate student at the University of California, Davis School of Veterinary Medicine, says: “These results have potential implications for both human and animal health, by improving our understanding of what causes these birth defects in both species…Cleft lip and cleft palate are complex conditions in people, and the canine model offers a simpler approach to study them.”

The team plan to use their research to ultimately eliminate the defect altogether – welcome news for both humans and furries.

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