Researchers identified the gene responsible for cleft palates and cleft lips in humans and dogs.
Scientists noticed the link between the conditions (which form during pregnancy) and the ADAMTS20 gene while looking at gene mutations in canines, the American Society of Human Genetics reported.
"These results have potential implications for both human and animal health, by improving our understanding of what causes these birth defects in both species," said Zena Wolf, a graduate student at the University of California, Davis School of Veterinary Medicine.
Since purebred dogs breed only with each other there is less genetic variation, making it easier to identify gene mutations linked to certain conditions. In the past researchers had linked mutations in dogs' DLX5 and DLX6 genes, which are responsible for head and face development in 12 of 22 cases of cleft palate.
The researchers conducted a genome-wide association study (GWAS) that compared the genes of dogs with cleft lips or palates to those without the condition. This method allowed the researchers to pinpoint the mutation in the gene ADAMTS20 to cleft birth defects; the mutation caused the protein in encodes to be shortened by 75 percent. Similar GWAS results in humans suggest mutations in the ADAMTS20 human gene may also be the cause of cleft lips and palates.
“Cleft lip and cleft palate are complex conditions in people, and the canine model offers a simpler approach to study them,” Wolf said. “Not only does this research help people, but it helps dogs, too."
The findings were published Oct. 19 in the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego.
