Skull Diversity (All Breeds) Overview
Skull Diversity (All Breeds)
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Category: Trait (Associated with Phenotype)
Variant Detected: c.2031C>A variant in the BMP3 (bone morphogenetic protein 3) gene
Severity: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.
Mode of Inheritance: Autosomal Recessive
Test Overview: Skull shape is a dog breed defining characteristic (or trait) that includes a shortened head (referred to as brachycephaly) or an elongated head (referred to as dolichocephaly). The brachycephaly phenotype is associated with shortened pushed in faces, an underbite and widely spaced shallow orbits, examples include the Bulldog, Pug and Boston terrier. Dolichocephaly associated with slender elongated skulls, is found in dog breeds such as the Greyhound, Saluki, and Collie breeds. A c.2031C>A variant in the BMP3 (bone morphogenetic protein 3) gene was found to be almost fixed in extreme brachycephalic breeds such as the Pug Dog, Pekingese, French Bulldog, Griffon Brussels and Boston Terrier. This variant was never seen in dolichocephalic breeds such as the basset hound, great dane, Doberman pincher and Saluki. Functional studies in Zebrafish found that this gene was necessary for craniofacial development.
Research Citation(s): The genetics of canine skull shape variation. Schoenebeck JJ, et al. Genetics. 2013.
Boyko et al. 2010 PLoS Biol. 8: e1000451
Schoenebeck et al. 2012 PLoS Genet 8(8): e1002849