Scientists studying birth defects in humans and purebred dogs have identified an association between cleft lip and cleft palate – conditions that occur when the lip and mouth fail to form properly during pregnancy – and a mutation in the ADAMTS20 gene. Their findings were presented on Sunday, October 19, at the American Society of Human Genetics (ASHG) 2014 Annual Meeting in San Diego, California. ADAMTS stands for “A Disintegrin And Metalloproteinase with Thrombospondin Motifs” and represents a family of peptidases. 19 members of this family, including ADAMTS20, have been identified in humans. Known functions of the ADAMTS proteases include processing of procollagens and von Willebrand factor as well as cleavage of aggrecan, versican, brevican, and neurocan. These proteins have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis, and cell migration. A homologous subfamily of ADAMTSL (ADAMTS-like) proteins, which lack enzymatic activity, has also been described. “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, B.S., a graduate student at the University of California, Davis, School of Veterinary Medicine. In both humans and dogs, cleft lip and cleft palate occur naturally with varying degrees of severity, and can be caused by various genetic and environmental factors. Because purebred dogs breed only with each other, there is less genetic variation to consider, making cleft lip and cleft palate easier to understand in these populations, Ms. Wolf explained. From previous studies, the researchers knew that a mutation in the dog genes DLX5 and DLX6, which are involved in face and skull development, explained 12 of 22 cases of cleft palate.
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