Catalburun, or Turkish hunting dog, is a rare breed that is believed to have an exceptional sense of smell due to its cleft nose. Now, researchers have identified the genetic mutation behind the special appearance.
It is a mutation on the PDFGRA gene, which previous research on mice has shown to be significant for how facial halves grow together during the fetal period. The discovery can be a piece of the puzzle as to how cleft palate occurs in humans, says Peter Savolainen, professor at KTH in Stockholm and expert on dog genetics.
Medically, it may not be a giant leap forward, but there have already been indications that this gene is involved, so one can say that this is further indication.
Cleft lip and palate depend on several factors, he emphasizes.
There are both genetic and environmental causes. This is a piece of the puzzle and not conclusive evidence.
Today, most dog breeds are more or less inbred. Many at levels that would be deeply worrying if it concerned humans, says Savolainen.
In humans, the genetic variation is too great, which makes it much more difficult to identify which mutation causes a particular disease. But inbreeding makes many dog breeds have a limited gene pool, something that makes them an important tool for finding genetic causes of human diseases.
Since there is less genetic variation, there are fewer puzzle pieces to search among in the genome, explains Peter Savolainen.
And if you can find the gene that is altered, in most cases, the same gene and the same disease are found in humans.
Cleft lip, jaw, and palate, CLP, occur in approximately 2 out of 1,000 newborn babies and are the most common congenital facial deformity.
The upper lip, the tooth-bearing part of the jawbone and/or the palate are cleft, which is due to the parts that form the upper jaw not growing together during the fetal stage. The cleft can be single- or double-sided.
It is not clear what causes CLP. Some studies show that it may be due to inheritance. There may also be a connection to how the fetus has been affected during pregnancy, for example, due to folic acid deficiency, smoking, or alcohol. There are also certain medications that can affect the fetus.
Source: ne.se, 1177.se
