Fig. 7: Graphical summary.

Our data support a model in which a non-coding, germline 5 bp deletion activates a set of long-range enhancers by creating a de novo MEF2 TF motif, which in turn triggers AXIN2 expression. MEF2 presence correlates with long-range TF nucleation and chromatin compaction, suggesting that these phenomena are major drivers of AXIN2 VCM formation. In addition, this 5 bp deletion and AXIN2 expression are associated with reduced CLL predisposition and disease progression.