OMIA 002186-9615 : Screw tail in Canis lupus familiaris
By conducting a mammoth proof-of-principle GWAS on "11 [breeds] with curly tails and 7 [breeds] with straight tails", with each dog being genotyped with Illumina CanineHD array (yielding 157,393 SNPs for analysis) developed for this study, Vaysse et al. (2011) highlighted a region between 96.26 and 96.96Mb on chromosome CFA1, which is flanked by the genes RCL1 and JAK2.Molecular basis: Mansour et al. (2018) " identified a frameshift mutation in the WNT pathway gene DISHEVELLED 2 (DVL2) ... as the most strongly associated [with screw tail] variant in the canine genome ... . DVL2 cDNA was sequenced from the skeletal muscle of a dog with a normal tail and a screw tail Bulldog ... to confirm the presence of the mutation in the mRNA in the Bulldog sample (DVL2c.2044delC). ... This deletion is predicted to lead to a frameshift mutation, causing a premature stop codon that truncates the translated protein by 23 amino acids (p.Pro684LeufsX26)." Clinical features: Mansour et al. (2018): "One group of three breeds (Bulldog, French Bulldog and Boston Terrier) is characterized by a wide head, short muzzle, widely spaced eyes, small size and abnormalities of the vertebral bones of the back and tail. These breeds are referred to as the screw tail breeds since the characteristic that is unique and easy to see in these breeds is their shortened and kinked tails."
Niskanen et al. (2021): "The DVL2 variant segregates in a recessive manner with caudal vertebral malformations and has incomplete and variable penetrance for thoracic vertebral malformations (Mansour et al. 2018). ... With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects."Prevalence: Mansour et al. (2018): "This DVL2 variant was fixed in Bulldogs and French Bulldogs and had a high allele frequency (0.94) in Boston Terriers." These same authors also reported that "To confirm the association of the DVL2c.2044delC mutation with the screw tail phenotype, 667 dogs, from 49 breeds, were genotyped for the DVL2 mutation . . . . 177 dogs were from the screw tail breeds including 33 Bulldogs, 79 French Bulldogs and 65 Boston Terriers. All were homozygous for the mutant allele except 6 of the Boston Terriers (4 heterozygous, 2 wildtype). In addition, we identified dogs from several other breeds, including Pit bulls, Staffordshire Bull Terrier, Shih Tzu and mixed breeds, that are heterozygous or homozygous for the DLV2 mutation. The Pug breed has sometimes been classified with the screw tail breeds due to its curled tail; however, the tail is full length and does not have caudal vertebral malformations . . . . 29 Pugs tested were wild-type for the DVL2 mutation. Likewise, the Pug dogs do not share the high MAF with the screw tail breeds around the DVL2 mutation . . . . Three hundred and eighty five dogs from 43 other breeds were also tested and were all wild-type." Breeds: American Bulldog, American Staffordshire Terrier, Boston Terrier, Dogue de Bordeaux, English Bulldog, French Bulldog, Staffordshire Bull Terrier. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DVL2||dishevelled segment polarity protein 2||Canis lupus familiaris||5||NC_051809.1 (32307523..32299943)||DVL2||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1056||Boston Terrier Bulldog French Bulldog||Screw tail||DVL2||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||5||g.32195051del||c.2051del||p.(P684Lfs*26)||XM_005619960.3; XP_005620017.1; published as g.32195043_32195044del; c.2044delC and changed to HGVS nomenclature in this table||2018||30521570|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Niskanen, J.E., Reunanen, V., Salonen, M., Bannasch, D., Lappalainen, A.K., Lohi, H., Hytönen, M.K. :|
|Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet 140:1535-1545, 2021. Pubmed reference: 33599851. DOI: 10.1007/s00439-021-02261-8.|
|2018||Mansour, T.A., Lucot, K., Konopelski, S.E., Dickinson, P.J., Sturges, B.K., Vernau, K.L., Choi, S., Stern, J.A., Thomasy, S.M., Döring, S., Verstraete, F.J.M., Johnson, E.G., York, D., Rebhun, R.B., Ho, H.H., Brown, C.T., Bannasch, D.L. :|
|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 Genet 14:e1007850, 2018. Pubmed reference: 30521570. DOI: 10.1371/journal.pgen.1007850.|
|2014||Guevar, J., Penderis, J., Faller, K., Yeamans, C., Stalin, C., Gutierrez-Quintana, R. :|
|Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation. PLoS One 9:e106957, 2014. Pubmed reference: 25198374. DOI: 10.1371/journal.pone.0106957.|
|Gutierrez-Quintana, R., Guevar, J., Stalin, C., Faller, K., Yeamans, C., Penderis, J. :|
|A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds. Vet Radiol Ultrasound 55:585-91, 2014. Pubmed reference: 24833506. DOI: 10.1111/vru.12172.|
|2011||Vaysse, A., Ratnakumar, A., Derrien, T., Axelsson, E., Rosengren Pielberg, G., Sigurdsson, S., Fall, T., Seppälä, E.H., Hansen, M.S., Lawley, C.T., Karlsson, E.K. :|
|Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet 7:e1002316, 2011. Pubmed reference: 22022279. DOI: 10.1371/journal.pgen.1002316.|
|2008||Jones, P., Chase, K., Martin, A., Davern, P., Ostrander, EA., Lark, KG. :|
|Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics 179:1033-44, 2008. Pubmed reference: 18505865. DOI: 10.1534/genetics.108.087866.|
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