Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus

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Figure 1.
Figure 1.

Schematic of the sc11.1 duplication on chromosome 22q11. The sc11.1 loci sc11.1a and sc11.1b lie immediately adjacent to low copy repeat regions termed LCR22, which are the proximal and distal breakpoint regions, respectively, of 1.5 Mb deletions associated with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). The map of the two sc11.1 repeats is shown, ordered centromere to telomere. Each locus contains a number of duplicated PCR-based markers and theDGCR6 gene and PRODH gene. Genetic markers are indicated with asterisks. The distance between them is ∼1 Mb.

This Article

  1. Genome Res. 11: 208-217

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