Brachycephaly

Brachycephaly in dogs is understood as the shortening of the skull that has occurred as a result of selective breeding. Typical brachycephalic breeds include the Pug, Bulldog, and Boxer. These breeds are characterised by a short, upward-pointing snout, a massive and rounded head, and a shortened upper jaw.

Brachycephaly is a quantitative trait, which means it is influenced by multiple genes. Studies suggest that skull shape is regulated by at least five separate quantitative trait loci. One of these regions contains a missense mutation (c.1343C>A) in the BMP3 gene, which is frequently found in extreme brachycephalic breeds and is considered a causal factor affecting the degree of skull variability associated with this mutation.

The BMP3 gene encodes a protein that belongs to the bone morphogenetic protein family. Through its antagonistic effect on other bone morphogenetic proteins and activins, it limits bone growth, which contributes to the brachycephalic skull phenotype.

The testing is performed by Perro Genetics’ partner laboratory.

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References:

Schoenebeck, J.J., Hutchinson, S.A., Byers, A., Beale, H.C., Carrington, B., Faden, D.L., Rimbault, M., Decker, B., Kidd, J.M., Sood, R., Boyko, A.R., Fondon, J.W., Wayne, R.K., Bustamante, C.D., Ciruna, B., Ostrander, E.A.

Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet 8:e1002849, 2012. PubMed reference: 22876193