A recent study has shed light on a genetic clue that may help explain why some children are born with orofacial clefts, such as cleft lip or palate. The study focused on a rare breed of hunting dog known as Turkish Pointers, or Catalburun, which have a distinctive forked nose. This unique feature has long been associated with the breed’s exceptional sense of smell.
Published in the journal Genome Research, the study identified a mutation in the PDFGRA gene as the genetic source of the bifid nose in Turkish Pointers. This gene is crucial for the development of the mouth and nose in embryonic stages, as evidenced by previous studies on mice. The researchers suggest that this finding may have implications for understanding human orofacial clefts, as PDFGRA mutations could potentially play a role in these conditions.
In addition to PDFGRA, the study also found mutations in the LCORL gene that are linked to variations in size among dog breeds. Specifically, one variant was associated with larger breeds, while another variant was associated with smaller breeds. This highlights the complex interplay between genetics and physical traits in dogs.
The research was a collaborative effort involving several institutions, including the KTH Royal Institute of Technology, the U.S. National Human Genome Research Institute, and universities in Turkey, the Netherlands, Finland, and the United States. By studying the genetic makeup of purebred dogs, the researchers were able to gain valuable insights that may have implications for human health.
According to Peter Savolainen, a researcher at KTH Royal Institute of Technology, studying dog breeds with limited genetic diversity can provide important clues for understanding genetic disorders in humans. The relatively homogenous gene pool of purebred dogs makes it easier to identify specific genetic mutations that are associated with certain traits or diseases.
Overall, this study demonstrates the potential of canine genetics research to inform our understanding of human genetic conditions. By unraveling the genetic basis of unique traits in dogs like Turkish Pointers, researchers may uncover new avenues for investigating and treating orofacial clefts and other genetic disorders in humans.
For more information on this study, you can refer to the original publication in Genome Research by Reuben M. Buckley et al. DOI: 10.1101/gr.280092.124.
This content is provided by KTH Royal Institute of Technology. For more information, you can visit their website at http://www.kth.se/en.
