including ITPR1 itself and CACNA1A. Thus, the cerebellum-specific regulation of these genes may provide an explanation for why, despite being ubiquitously expressed in human brain, mutations in these genes give rise to cerebellar ataxia. We also identified a significant enrichment of genes implicated in lysosome function (hsa04142, lysosome; Benjamini-corrected P = 0.019 in a cis-eQTL cluster specific to frontal and temporal cortex. Given that lysosome function is increasingly being implicated in Alzheimer’s disease and fronto-temporal dementia30, this finding may provide some insight into why other brain regions, and in particular the occipital cortex (a highly related structure), are relatively protected in these diseases.
