Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 1.
Figure 1.

Organization of the LCR22-2 locus. We show a 128-kb-long segment homologous to LCR22-4. The locus contains one functional gene, USP18. There is a predicted gene, XM_092877, but it is not expressed (M. Babcock and B.E. Morrow, unpubl.), and many pseudogenes. The region contains three ∼35-kb-long duplications denoted dupA, dupB, and dupC (these correspond to the red blocks in Babcock et al. 2003). dupA starts in the 3′ part of the USP18 gene. USP18 introns are marked in blue, coding exons in red; the first noncoding exon is highlighted in yellow. dupB and dupC contain the 3′ part of the last internal intron, last exon, and 3′-UTR of USP18. The bottom part shows the exact localization of LCR22-2 and the region homologous to LCR22-4. The LCR22-4 homology corresponds to a segment defined by dupB and dupC.

This Article

  1. Genome Res. 15: 1487-1495

Preprint Server