Screwtail mutation in dogs linked to human genetic disease, study finds

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Findings from a recent UC Davis Veterinary School of Medicine study shows that screwtail breeds have DNA sequences shockingly similar to humans with Robinow syndrome-a rare genetic disorder that causes skeletal abnormalities including the shortening of bones in the body, fusing of the ribs and short stature. Here's what veterinary professionals need to know: 

Who

Danika Bannasch, BS, DVM, PhD, of the Department of Population Health and Reproduction at UC Davis School of Veterinary Medicine spearheaded and oversaw the study. Graduate students and faculty from the university's school of medicine and members of the school of veterinary medicine rounded out the research team.

Sample population and size

DNA was gathered from 100 dogs, 10 of which were screwtail breeds, specifically bulldogs, French bulldogs and Boston terriers. All participating dogs are privately owned and the owners consented to the study. 

Findings

Out of the 12 million differences in the genetic sequences observed, one mutation in DVL2 genes was found in nearly all of the screwtail canines that participated in the study. 

Link to Robinow syndrome

Mutations to DLV1 and DLV3 genes are known to be the cause of Robinow syndrome in humans. As a result of the large role DLV genes play in the nerve and skeletal systems of both dogs and humans, screwtail breeds and those diagnosed with Robinow syndrome have similar physical features, such as cleft palates.

What it means

The analysis of the DLV2 genes found in the sampled screwtail breeds provided further insight as to how the mutation disrupts the WNT signaling pathway. The findings of the analysis strongly suggest that the distinct anatomical traits shared by Robinow syndrome patients and screwtail breeds are caused by a shared molecular defect. A better understanding of the genetic mutations found in these canines has the potential to enhance and quicken research for humans with similar mutations.

Read the full study here. 

Journal Reference

Tamer A. Mansour, Katherine Lucot, Sara E. Konopelski, Peter J. Dickinson, Beverly K. Sturges, Karen L. Vernau, Shannon Choi, Joshua A. Stern, Sara M. Thomasy, Sophie Döring, Frank J. M. Verstraete, Eric G. Johnson, Daniel York, Robert B. Rebhun, Hsin-Yi Henry Ho, C. Titus Brown, Danika L. Bannasch. Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PLOS Genetics, 2018; 14 (12): e1007850 DOI: 10.1371/journal.pgen.1007850