A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions

The study discovered a genetic cause for hairlessness in Scottish Deerhounds, identifying a 1-bp insertion in the SGK3 gene that caused a frameshift and early truncation of the protein, leading to hairlessness. The research involved 66 dogs and found the mutation fully segregated with hairlessness, with a 12% carrier frequency in the breed. This mutation was absent in Irish Wolfhounds. The findings suggested SGK3 as a candidate gene for human alopecia, particularly congenital hypotrichosis and early hair loss, recommending screening for SGK3 variants in humans and genetic testing in Scottish Deerhounds to manage the trait.