Figure 6.

DNA sequence of recombination junction fragments. DNA sequence for each deletion-specific junction fragment obtained by DOP-PCR was perfectly aligned to the wild-type flanking finished genomic sequences for both proximal and distal breakpoints. Alignments with the proximal boundary were shaded in light gray, and those with the distal boundary were shaded in dark gray. Top, Sequence alignment in family HOU542. The recombination breakpoint was embedded in an 18-bp stretch of perfect sequence alignment (shaded in black with white letters). Middle, Sequence alignment in family HOU669. The recombination breakpoint was located within a 12-bp segment that has partial sequence identity to proximal boundary sequence (underlined). The origin of this 12-bp segment is unknown. Bottom, Sequence alignment in family PMD1. The sequences of the junction fragment consist of three segments (see fig. 5). In addition to the proximal and distal boundaries, a 34-bp middle fragment is shown in black shading. This middle segment has 2-bp overlaps with proximal and distal segments, respectively (asterisks above the alignment).