Figure 4

One Pelizaeus-Merzbacher disease (PMD)-associated complex PLP1 rearrangement results from multiple FoSTeS events, FoSTeS × 3 (Adapted from [82]). a. Duplication junctions (vertical dotted lines) for one PMD patient are displayed relative to reference sequence, with the duplicated region boxed. Two or three base pairs of microhomology were found at the breakpoint junctions (i.e. "joint points") after amplification with outward-facing primers (F and R). b. Illustration of the order, origins, and relative orientations of junctional (pink and blue) and boundary reference sequences (orange and green) for the PMD patient. Arrowheads show direction of DNA relative to the positive strand; filled arrowheads with circled numbers below represent a FoSTeS event; open arrowhead marks resumption of replication on the original template. Proximal (centromeric) and distal (telomeric) are in relation to PLP1 (red circle).