Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610575 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: 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: