Supplementary Fig. 10: Model of NPM1 function as a 2′-O-Me modulator.
From: Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita
a, NPM1 proteins assemble in pentamers and bind snoRNAs as well as FBL to facilitate snoRNA loading, proper rRNA 2′-O-methylation and normal hematopoiesis. b, NPM mutants identified in DC patients affect the complex’s ability to bind snoRNAs and hence snoRNA loading into snoRNPs is compromised. This leads to low 2′-O-Me, translational deficiencies in HSCs and to aberrant hematopoiesis. c, TCGA database reveals additional mutations in the specific NPM1 acidic repeat identified in various solid tumors.
