Cleft palate discovery in dogs to aid in understanding human birth defect
April 7, 2014
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.
The findings appear this week online in the journalPLOS Genetics.
"This discovery provides novel insight into the genetic cause of a form of cleft palate through the use of a less conventional animal model," said Professor Danika Bannasch, a veterinary geneticist who led the study. "It also demonstrates that dogs have multiple genetic causes of cleft palate that we anticipate will aid in the identification of additional candidate genes relevant to human cleft palate."
Bannasch, who holds the Maxine Adler endowed chair in genetics, explains that common breeding practices have made the dog a unique animal model to help understand the genetic basis of naturally occurring birth defects. (full article)
Zena T. Wolf, Elizabeth J. Leslie, Boaz Arzi, Kartika Jayashankar, Nili Karmi, Zhonglin Jia, Douglas J. Rowland, Amy Young, Noa Safra, Saundra Sliskovic, Jeffrey C. Murray, Claire M. Wade, Danika L. Bannasch. A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genetics, 2014; 10 (4): e1004257 DOI: 10.1371/journal.pgen.1004257
FIGURE 2: Phenotype of neonatal CP1 NSDTRs.
A. Neonatal CP1 NSDTR with an extensive cleft of the hard and soft palate. B. Neonatal NSDTR with a normal palate (WT). C. Lateral view of CP1 head exhibiting relative mandibular brachygnathia. D. Lateral view of WT head with a normal jaw relationship… (x)