Figure 1.
Genetic mapping and epigenetic landscape of the 13q12.2 locus. Map of the FLT3 and PAN3 loci in 13q12.2. Predicted topologically associating domains based on data from the lymphoblastic GM12878 cell line are indicated by diagonal dashed lines. (A) Hemizygous deletions identified in 27 BCP ALL samples by WGS (black) or SNP array or WES (gray). The violet square corresponds to the minimally deleted region. (B) DNase-seq signal based on the GM12878 cell line. (C) ATAC-seq signal based on the NALM-6 cell line. (D) ChIP-seq of histone modifications (H3K27ac and H3K4me3) based on the GM12878 (E) and the NALM-6 cell lines. (F) H3K27ac- and H3K4me3-enriched PLAC-seq interaction map based on the NALM-6 cell line. (G) Relative interaction frequencies in 13q12.2 in 6 primary ALL cases and the GM12878 cell line based on Hi-C, where higher values on the y-axis correspond to stronger interaction. Increased interactions with the enhancer element DS3 are seen in the case with 13q12.2 deletion.