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PLoS Genetics Issue Image | Vol. 14(12) December 2018

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A French Bulldog, one of the three dog breeds characterized by truncated and malformed caudal vertebrae or "screw tail".

Screw tail dog breeds include the Bulldog, French Bulldog and Boston terrier. These breeds share morphological characteristics including vertebral malformations, short stature, brachycephaly and widely set eyes. Breed defining characteristics for screw tail dog breeds were investigated using whole genome association analysis of all variants identified in 100 dogs (12.4 million variants). The single most associated variant was a protein truncating DVL2 frameshift variant analogous to frameshift mutations in human DVL1 and DVL3 which are responsible for Robinow syndrome. See Mansour et al.

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Image Credit: Katy Robertson

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A French Bulldog, one of the three dog breeds characterized by truncated and malformed caudal vertebrae or "screw tail".

Screw tail dog breeds include the Bulldog, French Bulldog and Boston terrier. These breeds share morphological characteristics including vertebral malformations, short stature, brachycephaly and widely set eyes. Breed defining characteristics for screw tail dog breeds were investigated using whole genome association analysis of all variants identified in100 dogs (12.4 million variants). The single most associated variant was a protein truncating DVL2 frameshift variant analogous to frameshift mutations in human DVL1 and DVL3 which are responsible for Robinow syndrome. See Mansour et al.

Download December's cover page.

Image Credit: Katy Robertson

https://doi.org/10.1371/image.pgen.v14.i12.g001