Genomic comparisons by DupMasker. DupMasker facilitates the characterization of duplication-mediated genomic rearrangements. (A) Miropeats (Parsons 1995) comparison between human reference genome (build35, top) against a fosmid clone (bottom) from a Japanese individual (ABC9) identifies a ∼40-kbp deletion. DupMasker on this region identified a pair of tandem duplications (dark green) flanking the internal duplicon (light green), which was likely deleted by NAHR in this Japanese individual. The deletion removes part of the intron of the LATS1 gene. (B) A similar comparison between sequences from a chimpanzee BAC clone (AC097264.4) and its orthologous locus on human chromosome 17 predicts a large (∼80 kbp) chimpanzee-specific insertion. DupMasker analysis suggests that the insertion is the result of a duplicative transposition event composed of segmental duplications that originated from human–chimpanzee ancestral chromosome 16.
