Fig. 2: Functional genetic interactions between BCL11A and β-globin locus cis-regulatory elements.

a, b Globin gene expression analysis in BFU-E colony upon combined perturbation of HBG-Δ13bp and BCL11A. BCL11A-e2^Δ: frameshift mutation in BCL11A exon 2; BCL11A-e4^Δ: frameshift mutation in BCL11A exon 4; HBG^Δ: editing mutation within HBG-Δ13bp region. Results are shown as violin plot (P values are labeled on the top of each comparison. *P < 0.05, **P < 0.01, ***P < 0.001 by a two-tailed Student’s t test). c Quantitative modeling on HBG1/2 or HBB mRNA expression from combined perturbation of HBG-Δ13bp and BCL11A. HBG-Δ13bp mutation (0: ++++; 1: +++Δ; 2: ++ΔΔ; 3: +ΔΔΔ; 4: ΔΔΔΔ); BCL11A mutation (0: BCL11A^wt/wt; 1: BCL11A-e2^wt/Δ; 2: BCL11A-e4^wt/Δ; 3: BCL11A^Δ/Δ). Modeling lines and bands are shown as mean ± 95% CI. d, e Globin gene expression analysis in BFU-E colony upon combined perturbation of HBB-3.5kb element and BCL11A. Results are shown as violin plot (P values are labeled on the top of each comparison. *P < 0.05, **P < 0.01, ***P < 0.001 by a two-tailed Student’s t test). f Quantitative modeling on HBG1/2 or HBB mRNA expression from combined perturbation of HBB-3.5kb element and BCL11A. HBB-3.5kb deletion (0: +/+; 1: +/Δ; 2: Δ/Δ); BCL11A mutation (0: BCL11A^wt/wt; 1: BCL11A-e2^wt/Δ; 2: BCL11A-e4^wt/Δ; 3: BCL11A^Δ/Δ). Modeling lines and bands are shown as mean ± 95% CI.