OMIA:001531-9615 : Furnishings (moustache and eyebrows) in Canis lupus familiaris
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610575 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2009
Mapping: By conducting a GWAS on "33 wire-haired, 34 smooth coat, and 29 long-haired" Dachsunds, each genotyped with an Affymetrix Version 2 Canine SNP chip (yielding 51,071 informative SNPs for analysis), Cadieu et al. (2009) highlighted a region on chromosome CFA13.
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).
|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|
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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|
|703||Furnishings (moustache and eyebrows)||RSPO2||insertion, gross (>20)||Naturally occurring variant||13||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 372:20150488, 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