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Head shape

Dog breeds vary significantly in head shape, from long-headed (dolichocephalic) breeds like Afghan Hounds and Greyhounds to broad, wide-skulled (brachycephalic) breeds like Pugs and French Bulldogs.

Affected Genes: SMOC2, THBS2, BMP3

Inheritance: Complex Inheritance

Variant(canFam6):
SMOC2 chr1:56731345-56732881: 1,531 bp insertion
THBS2 chr1:57198814: T>C
BMP3_chr32:36649938: G>T

Dog breeds exhibit significant variability in head shape, ranging from long-headed (dolichocephalic) breeds like the Afghan Hound and Greyhound to broad, wide-skulled (brachycephalic) breeds like the Pug and French Bulldog.

References:
Marchant TW, Johnson EJ, McTeir L, Johnson CI, Gow A, Liuti T, Kuehn D, Svenson K, Bermingham ML, Drögemüller M, Nussbaumer M, Davey MG, Argyle DJ, Powell RM, Guilherme S, Lang J, Ter Haar G, Leeb T, Schwarz T, Mellanby RJ, Clements DN, Schoenebeck JJ. Canine brachycephaly is associated with a retrotransposon-mediated missplicing of SMOC2. Curr Biol. 2017 27(11):1573-1584.

Schoenebeck JJ, Hutchinson SA, Byers A, Beale HC, Carrington B, Faden DL, Rimbault M, Decker B, Kidd JM, Sood R, Boyko AR, Fondon JW 3rd, Wayne RK, Bustamante CD, Ciruna B, Ostrander EA. Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet. 2012 8(8):e1002849.

Heinrich J, Berger C, Berger B, Hecht W, Phillips C, Parson W. The LASSIE MPS panel: Predicting externally visible traits in dogs for forensic purposes. Forensic Science International: Genetics 2023 66:102893

Plassais J, Kim J, Davis BW, Karyadi DM, Hogan AN, Harris AC, Decker B, Parker HG, and Ostrander EA. Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology. Nat Commun. 2019 10(1):1489.