Figure 2.
The expanded promoter at duplicated TPSAB1 is conserved and has increased basal activity. (A) Normalized fluorescent reporter activity in unstimulated MonoMac-6 cells transfected with promoters cloned from endogenous (αWT) or replicated (αDUP) TPSAB1 loci. (B) BST from individuals grouped by TPSAB1 replication number. (C-D) Relative allelic frequency (C) and ratios (D) of αWT-tryptase (y-axis) and αDUP-tryptase (x-axis) associated 5′ variants determined by ddPCR. Dashed lines indicate predicted αWT:αDUP ratios by genotype. ∗P < .05.