Fig. 2

Intragenic and intergenic BORIS binding sites are associated with active transcription in K562 and male germ cells. a Schematic representation of ChIP-seq data illustrating the distribution of BORIS binding sites in K562 cells relative to a reference gene structure. Among the identified binding sites, 40, 28, and 32% are located around TSSs, inside introns or exons, and outside of RefSeqGenes, respectively. Canonical and alternative TSSs are denoted by black and red arrows, respectively, based on NGS data shown in panel b. b Heatmaps illustrating the enrichment profiles of BORIS, CTCF, RNAPII, H3K4me3 ChIP-seq signals, and CAGE-seq reads within a 6-kilobase (kb) window centered on BORIS binding sites in K562 cells. These heatmaps correspond to the genomic distribution pattern depicted in panel a. c Schematic representation of the strategy used to map TSSs associated with K562-testis-specific transcription driven from BORIS sites in K562 cells. d Genomic distribution of 1025 TSSs, active in both testis and K562 cells, relative to their genomic location with respect to RefSeqGenes. e Top diseases or function annotation for the 1025 TSSs identified using the strategy illustrated in panel c