Rare hunting dogs’ unique noses may offer clue to cause of cleft lip and palate in humans
en-GBde-DEes-ESfr-FR

Rare hunting dogs’ unique noses may offer clue to cause of cleft lip and palate in humans


It’s not entirely understood why some children are born with orofacial clefts, such as cleft lip or palate. But a new study suggests a genetic clue may be found in a rare breed of hunting dog.

An international research team reports that it identified the genetic origins of the forked nose that distinguishes Turkish Pointers – or Catalburun – a breed that have been prized for their supposed superior sense of smell. Publishing in the scientific journal Genome Research, the researchers traced the dogs’ forked, or bifid, nose to a mutation of the gene PDFGRA.

Peter Savolainen, a canine genealogy authority at Stockholm's KTH Royal Institute of Technology, says the study raises the possibility that there may be a connection between the mutation of PDFGRA and cases of human orofacial clefts.

One indication is in the role PDFGRA was previously found to play in embryonic development of mice. PDFGRA is essential for connecting the halves of the mouth and nose during embryonic development, the study stated.

“This indicates that the gene might be involved in some cases of human orofacial clefts,” Savolainen says. “While there are several genetic and environmental reasons behind orofacial clefts in humans, this study offers a clue to another factor.”

A mutated variant of PDFGRA was also found to be behind unexpected forked-nose deformities in other breeds of dog. The researchers also found two mutations in another gene, LCORL, which code for large breeds and small breeds, respectively.

The work was a collaboration between KTH Royal Institute of Technology, the U.S. National Human Genome Research Institute; University of Ankara; Afyon Kocatepe University and University of Selcuk in Turkey; Utrecht University in the Netherlands; University of Helsinki and Folkhälsan Research Center in Finland; Cornell University in Ithaca, New York; and Embark Veterinary in Boston, Massachusetts.

Savolainen says the research demonstrates how studying the smaller gene pool of bred dogs provides valuable genomic insights for medical science. “Studying the very inbred dog breeds is an excellent tool for finding the genetic reason for many morphologic traits and diseases in humans,” he says.

“In humans there is just too much genetic variation, making it hard to identify exactly which genetic mutation causes a specific disease,” he says.

Analysis of canine gene constraint identifies new variants for orofacial clefts and stature
Published in Advance March 24, 2025, doi:
10.1101/gr.280092.124
Genome Res. 2025. 35: 1080-1093
Attached files
  • A gene mutation linked to the unique noses of Turkish Pointers – or Catalburun – has been identified.
  • A mixed breed dog with a forked nose.
  • An international research team reports that it identified the genetic origins of the forked nose that distinguishes Turkish Pointers – or Catalburun – a breed that have been prized for their supposed superior sense of smell. Pictured, a mixed breed dog with a bifid nose (left) and a Turkish pointer (right).
Regions: Europe, Sweden
Keywords: Science, Life Sciences

Disclaimer: AlphaGalileo is not responsible for the accuracy of content posted to AlphaGalileo by contributing institutions or for the use of any information through the AlphaGalileo system.

Testimonials

For well over a decade, in my capacity as a researcher, broadcaster, and producer, I have relied heavily on Alphagalileo.
All of my work trips have been planned around stories that I've found on this site.
The under embargo section allows us to plan ahead and the news releases enable us to find key experts.
Going through the tailored daily updates is the best way to start the day. It's such a critical service for me and many of my colleagues.
Koula Bouloukos, Senior manager, Editorial & Production Underknown
We have used AlphaGalileo since its foundation but frankly we need it more than ever now to ensure our research news is heard across Europe, Asia and North America. As one of the UK’s leading research universities we want to continue to work with other outstanding researchers in Europe. AlphaGalileo helps us to continue to bring our research story to them and the rest of the world.
Peter Dunn, Director of Press and Media Relations at the University of Warwick
AlphaGalileo has helped us more than double our reach at SciDev.Net. The service has enabled our journalists around the world to reach the mainstream media with articles about the impact of science on people in low- and middle-income countries, leading to big increases in the number of SciDev.Net articles that have been republished.
Ben Deighton, SciDevNet

We Work Closely With...


  • e
  • The Research Council of Norway
  • SciDevNet
  • Swiss National Science Foundation
  • iesResearch
Copyright 2025 by AlphaGalileo Terms Of Use Privacy Statement