For the past couple of years we’ve been studying the unusual genetics of the Shetland islands with Jim Wilson’s group. Jim has a long history of studying the isolated populations of the Scottish Northern Isles, but we’ve just published the first study that is based upon whole genome sequencing (WGS), comparing Shetland (n=500) and mainland Scottish populations (n=1156). The results are quite striking, showing an enrichment of genetic variants that are rare or ultra-rare (ie not yet seen elsewhere) such that around 10% of all Shetland variants “are unique to the VIKING cohort or are seen at frequencies at least ten fold higher than in more cosmopolitan control populations”. Many of these variants are predicted to alter gene function and they are particularly enriched in promoter regions, which control gene expression patterns. This raises the possibility that gene expression may evolve relatively rapidly in isolated human populations.
The Semple Lab 