The 22q11 low copy repeats are characterized by unprecedented size and structural variability

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Figure 5.
Figure 5.

Conservation of the 22q11 region. (A) UCSC Genome Browser hg38 view of BACs that were evaluated covering the region, with LCR22A flanking BACs highlighted in green (CH17-320A22) and magenta (CH17-222C16). MULTIZ alignments (Blanchette et al. 2004) of chimpanzee (Pan_tro 3.0/panTro5), gorilla (GSMRT3/gorGor5), and orangutan (WUGSC 2.0.2/ponAbe2) genomes to the human genome identify high conservation in the unique 22q11 region, but lower conservation in the LCR22s. (B) A zoomed in view of LCR22A. (C) Fiber FISH de novo assembly performed on DNA from a chimpanzee cell line. The observed probe pattern is complementary with the predicted probe composition based on the chimpanzee reference genome. The LCR22A region is present in an opposite orientation compared to the human reference.

This Article

  1. Genome Res. 29: 1389-1401

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