Figure 1.
Recurrent USP8 mutations in Cushing's disease. (A) The number of somatic mutations (top) and the mutational status of the indicated gene (bottom) in each patient, as revealed by whole-exome sequencing and Sanger sequencing. The total number of each type of somatic mutation in 12 cases is shown on the top right. Patients carrying the indicated mutated gene are marked in pink (bottom). (B) Schematic diagram of USP8 domains and landscape of USP8 alterations in the 14-3-3 binding motif and its nearby region. These alterations were identified in 108 patients with Cushing's disease by Sanger sequencing. The number of cases with the indicated USP8 mutation among 108 patients is denoted in parentheses. The purple bar represents the 14-3-3 binding motif of USP8, and its amino acid sequence is shown on the bottom left. MIT, microtubule interaction and transport domain; Rhod, rhodanese-like domain; DUB, deubiquitinating domain.