Extended Data Figure 8: Functional sequences at the Bcl11a erythroid enhancer.
From: BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
a–c, HMM segmentation of active functional states at m+55, m+58 and m+62 orthologues. HbF enrichment scores are shown as grey lines and circles with the blue line representing smoothed enrichment score. DNase I sequencing from mouse fetal liver erythroid precursors28. PhyloP (scale from −3.3 to 2.1) and PhastCons (from 0 to 1) estimates of evolutionary conservation among 30 vertebrates are shown. d, Top: Bcl11a expression determined by RT–qPCR displayed as a heat map in 108 hemizygous m+62 orthologue deletion clones ordered by genomic position of deletion midpoint. Each bar demonstrates the genomic position of the deletion breakpoints and the associated colour demonstrates the level of Bcl11a expression. Bottom: Bcl11a expression determined by RT–qPCR in 108 hemizygous m+62 orthologue deletion clones. Per nucleotide mean effect size was calculated as the mean fold change in Bcl11a expression from all clones in which that nucleotide was deleted. Grey shading represents one s.d. The Bcl11a expression data are shown with same x axis as in panel c immediately above.
