Whole genome analysis of a single family identifies a single SGK3 coding variant and multiple explanations for hairlessness in Scottish Deerhounds

This work describes the identification of a single mutation within the SGK3 gene which is responsible for a rare, compete hairless (alopecia universalis) phenotype in the Scottish Deerhound. Whole genome sequence from six members of a single, small Deerhound family segregating the disorder was compared to that from 722 control dogs to identify a protein-truncating one-base pair insertion. This study not only advances our understanding of alopecia, but highlights a refined mechanism for utilizing genomic analysis of small dog families for finding mutations associated with traits that parallel human disorders.