Figure 5.
The intrastrand slipped-mispairing model as applied to the ALL1 PTD. Shown at the top of the figure is a segment of the wild-type ALL1 gene as double-stranded DNA. Gray numbered boxes represent exons. Solid boxes represent Alu elements from introns 1 and 6. In the model, slipped mispairing of a single strand of double-stranded DNA generates a structure that could prime the synthesis of the slipped region, resulting in a tandem duplication. In this example, the break in a single strand occurs in the middle of the second Alu element in intron 6 (vertical arrow). The resultant slipped region mispairs with an Alu element in intron 1. Repair synthesis produces a single strand with a tandem duplication of exons 2–6. A subsequent round of DNA replication produces and one chromosome with the partial tandem duplication of ALL1 and one chromosome with a wild-type ALL1. Adapted from Roth et al. (33).