Sequence analysis of t(1;22)(p36;q13) breakpoints. For each subject the two alignments show derivatives of chromosome 1 (der1) and chromosome 22 (der22), respectively. Adjacent to these are the original chromosomal sequences, showing contribution to the derivative from chromosome 1 (red) or chromosome 22 (blue). Inverse (white on black) shows regions of derivative chromosome that match both original chromosomes. The area of chromosome 22 in subject 13 outlined by a dashed box indicates a 337-bp duplication present on both derivatives. Segments of chromosomes that are lost (deleted) are shown in light orange (chromosome 1) or light green (chromosome 22). The salmon/light red section of der22 in subject 127 represents a sequence that is generated by duplication from the original chromosome 1 sequence (in red). Motifs are indicated by colored bars adjacent to the alignments: eukaryotic topoisomerase cleavage site consensus (magenta), translin (TSN) target motifs (blue), DNA polymerase frameshift hotspots (green), and deletion hotspot consensus (red). “R” and “Y” adjacent to chromosomal sequences indicate runs of purines and pyrimidines, respectively. Interspersed repeats are represented by a gray bar, together with the repeat type and the similarity of the sequence to the repeat consensus (%). Paired arrows under a sequence indicate direct repeats (arrows in same direction) and inverted repeats (a sequence plus its inverted complement, arrows in opposite directions). The arrow line styles depict which sequences are related. Numbers adjacent to the normal chromosome sequences indicate significant potential DNA structural features, which are shown in the corresponding Supplemental Figure 2.
