Template slippages at deletion breakpoints in DMD cases 5024, 9250, 1148, 5904, 5078, and 6194. In all the cases shown in the figure, short segments of the inserted sequence align with the template (reference genome) sequence proximal to the breakpoint as shown (each such segment of the inserted sequence is highlighted in a different color for each case). These indicate repeated slippage of the replication machinery along the template and re-replication. Each lightning symbol shown in the figure represents a slippage event of the replication machinery. Template sequence proximal to the breakpoints on both 5′ and 3′ ends of the deletion (gray bars); deletion (red dotted lines); breakpoints (vertical black bars). Below this, for each case, the gray arrow bars (with sequence enclosed) refer to the normal replication, while template slippages and re-replications leading to insertion are shown by colored arrows. Each cycle of re-replication is represented in a different color. The introns in which the deletion breakpoints lie are shown above each breakpoint. Each re-replicated sequence is also shown enclosed in corresponding colored boxes on the template DNA.
