FIGURE 2.
Composition of the 22q11.2 locus in human and non-human primates. Schematic representations of the 22q11.2 region, including LCR22-A through –H, based on Bionano optical mapping and fiber-FISH. As represented in (A) the human reference genome hg38, (B) chimpanzee and bonobo, (C) gorilla, and (D) orangutan. (E) Bionano optical mapping results of orangutan compared to the human reference genome. The middle bar represents the human hg38 reference genome with blocks indicating the LCR22s (corresponding to A). The top and bottom bar represent the assembled haplotypes for this orangutan. Gray lines between the maps indicate orthologous loci. Blue labels in the maps are aligned labels, and yellow labels unaligned. These unaligned labels are non-similarities between the genomes. They can be present either at the nucleotide level or in very complex regions as segmental duplications. Arrows below depict rearrangements between the human and the orangutan genomes. (F) Schematic 22q11.2 representation of the rhesus monkey, only based on fiber-FISH results. Chromosomal locations of the BAC probes can be found in Supplementary Table 2. Cartoons are not to scale.