OMIA 001531-9615 : Furnishings (moustache and eyebrows) in Canis lupus familiaris
By conducting a mammoth proof-of-principle GWAS on "4 breeds with furnishings (a coat type with moustache and eyebrows . . . ) compared to 42 without them", with each dog being genotyped with Illumina CanineHD array (yielding 157,393 SNPs for analysis) developed for this study, Vaysse et al. (2011) confirmed the results of Cadieu et al. (2009) by highlighting a region between 10.42 and 11.68Mb on chromosome CFA13. Specifically, "The most strongly associated SNP is at 11,678,731 (Pgenome<0.001), 44 kb from the causative SNP previously identified in RSPO2".Molecular basis: Fine-mapping of the CFA13 candidate region (see Mapping section) narrowed the region to a 238kb segment containg only one gene, namely RSPO2, a likely functional candidate gene. Sequencing of this gene identified the causal mutation as a 167bp insertion "within the 3′UTR at position 11,634,766", which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings (Cadieu et al., 2009). Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RSPO2||R-spondin 2||Canis lupus familiaris||13||NC_051817.1 (9022401..8873544)||RSPO2||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Furnishings (moustache and eyebrows)||RSPO2||insertion, gross (>20)||a 167bp insertion "within the 3'UTR at position 11,634,766", which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings||2009||19713490|
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.
|2017||Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. :|
|The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.|
|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.|
|2009||Cadieu, E., Neff, M.W., Quignon, P., Walsh, K., Chase, K., Parker, H.G., Vonholdt, B.M., Rhue, A., Boyko, A., Byers, A., Wong, A., Mosher, D.S., Elkahloun, A.G., Spady, T.C., André, C., Lark, K.G., Cargill, M., Bustamante, C.D., Wayne, R.K., Ostrander, E.A. :|
|Coat variation in the domestic dog is governed by variants in three genes. Science 326:150-3, 2009. Pubmed reference: 19713490. DOI: 10.1126/science.1177808.|
- Created by Frank Nicholas on 05 Nov 2010
- Changed by Frank Nicholas on 26 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 May 2013
- Changed by Frank Nicholas on 22 May 2013