OMIA 001531-9615 : Furnishings (moustache and eyebrows) in Canis lupus familiaris

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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RSPO2 R-spondin 2 Canis lupus familiaris 13 NC_006595.3 (8755727..8610227) RSPO2 Homologene, Ensembl, NCBI gene

Variants

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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

References


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.

Edit History


  • 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