ArticlePLoS genetics2018
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.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 77 citations in OpenAlex.
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- Vertebral Vascular Canal Dysplasia in Three Brachycephalic Breeds and Its Relationship With BOAS Grade.Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association · 2026Article
- Association of the Disheveled 2 (DVL2) Gene c.2044delC Variant with Increased Risk of Canine Cleft Palate.Animal genetics · 2026Article
- Immunohistochemical characterization of neural stem cells in brains of adult brachycephalic dogs in comparison with canine oligodendroglioma cells.The Journal of veterinary medical science · 2026Article
- Salvage Stabilization via Transthoracic Approach for Congenital Vertebral Malformations in a Toy Breed Dog: A Case Report.Animals : an open access journal from MDPI · 2026Article
- A Splice Acceptor Variant inGenes · 2026Article
- A cross-sectional study into the prevalence and conformational risk factors of BOAS across fourteen brachycephalic dog breeds.PloS one · 2026Article
- Quantitative genetic analysis of respiratory function and related traits in Bulldogs, French Bulldogs and Pugs.PloS one · 2026Article
- A 120-y time series of genomes reveals the consequences of closed breeding in German Shepherd Dogs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Health status and disease prevalences in French bulldogs in Germany: insights from a survey-based study.Companion animal health and genetics · 2025Article
- Breed-specific variations in canine spinal cord anatomy: conus medullaris and dural sac termination and filum terminale internum length.BMC veterinary research · 2025Article
- Selective attraction to shorter muzzles in dogs is a hidden driver of the brachycephalic welfare crisis.Scientific reports · 2025Article
- Copy-cat evolution: Divergence and convergence within and between cat and dog breeds.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Comparison of Clinical Features of Intervertebral Disc Extrusions in English Cocker Spaniels, French Bulldogs and Dachshunds.Animals : an open access journal from MDPI · 2025Article
- Prevalence and breed predisposition for spinal diseases in pugs and French bulldogs.The Veterinary record · 2025Article
- Article
- Why do dogs wag their tails?Biology letters · 2024Article
- Retrospective analysis of custom 3D-printed drill guides and titanium plate use in spinal stabilization of eleven dogs.Frontiers in veterinary science · 2024Article
- BOAS in the Boston Terrier: A healthier screw-tailed breed?PloS one · 2024Article
- GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
Abstract
Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs and Boston Terriers share many morphological and disease-predisposition traits, including brachycephalic skull morphology, widely set eyes and short stature. Unlike other brachycephalic dogs, these breeds also exhibit vertebral malformations that result in a truncated, kinked tail (screw tail). Whole genome sequencing of 100 dogs from 21 breeds identified 12.4 million bi-allelic variants that met inclusion criteria. Whole Genome Association of these variants with the breed defining phenotype of screw tail was performed using 10 cases and 84 controls and identified a frameshift mutation in the WNT pathway gene DISHEVELLED 2 (DVL2) (Chr5: 32195043_32195044del, p = 4.37 X 10-37) as the most strongly associated variant in the canine genome. This DVL2 variant was fixed in Bulldogs and French Bulldogs and had a high allele frequency (0.94) in Boston Terriers. The DVL2 variant segregated with thoracic and caudal vertebral column malformations in a recessive manner with incomplete and variable penetrance for thoracic vertebral malformations between different breeds. Importantly, analogous frameshift mutations in the human DVL1 and DVL3 genes cause Robinow syndrome, a congenital disorder characterized by similar craniofacial, limb and vertebral malformations. Analysis of the canine DVL2 variant protein showed that its ability to undergo WNT-induced phosphorylation is reduced, suggesting that altered WNT signaling may contribute to the Robinow-like syndrome in the screwtail breeds.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.