Figure 5

Derivative chromosomes for the t(14;18) IGH-BCL2 translocation in the DB cell line. (A) Full length and split-reads mapping to both der(14) and der(18). Der(14) reads map to the BCL-2 and IGHJ5 loci and der(18) reads map to the BCL-2 and IGHD5-12 loci. Red segments in the bottom panel indicate IGH D and J segments. The small gap between pink and blue split-read pileups in the right panel covers 12 bp of sequence deleted before recombination. This junction was complex with deletion of 12 bases and insertion of 8 (shown in B, right side). The panel on the left is 38.5 Kb centromeric of the middle panel, and is shown as a separate panel because the intervening sequence was deleted from der(14). (B) The rearrangements were confirmed by Sanger sequencing, with the recovered sequences matching the junction spanning sequences found with split-reads. The split-read sequences are shown aligned to the two sequences present in the reference genome (hg19) from each junction. Aligned nucleotides are in gray, N-regions are in white, and the heptamer and nonamer of IGHD5-12 are shown in black. Both junctions contain N-regions, 11 N-region nucleotides on der(14) and 8 N-region nucleotides on der(18).