Figure 2

The mosaic architecture of segmental duplications in the human 22q11.2 region. (A) Duplicated subunits, genes and pseudogenes. The 22q11.2 region is depicted as a grey line and colored boxes for unique and SD sequences, respectively. Eight duplicated blocks are labelled with red arrow lines for current boundary definition (Table 1) and blue arrow lines for the previous definition [14]. Paralogous subunits (i.e., in the same subunit family) are shown with same color. For simplification, both genes (green) and pseudogenes (purple) were drawn without names. (B) Hierarchy of non-overlapping duplicated loci. A total of 33 groups of duplication loci in 22q11.2 were identified and all loci were aligned to the largest locus of their corresponding groups (all subunits have the same color as in Figure 2A). Horizontal order shows relative chromosome locations with white spaces added to separate sequences in distinct duplication groups. Arrows point to paralogous subunits at the breakpoints of recurrent (> 5) duplications; numbers below them are the total subunits at breakpoints and subsets with Alu elements. A gap in LCR22-3a' was represented by a dash line with 'N'.