Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus

Lisa Edelmann, Pavel Stankiewicz, Elizabeth Spiteri, Raj K. Pandita, Lisa Shaffer, James Lupski, Bernice E. Morrow

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations


The DGCR6 (DiGeorge critical region) gene encodes a putative protein with sequence similarity to gonadal (gdl), a Drosophila melanogaster gene of unknown function. We mapped the DGCR6 gene to chromosome 22qll within a low copy repeat, termed, and identified a second copy of the gene, DGCR6L, within the duplicate locus, termed Both scll.l repeats are deleted in most persons with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), and they map immediately adjacent and internal to the low copy repeats, termed LCR22, that mediate the deletions associated with VCFS/DGS. We sequenced genomic clones from both loci and determined that the putative initiator methionine is located further upstream than originally described, but in a position similar to the mouse and chicken orthologs. DGCR6L encodes a highly homologous, functional copy of DGCR6, with some base changes rendering amino acid differences. Expression studies of the two genes indicate that both genes are widely expressed in fetal and adult tissues. Evolutionary studies using FISH mapping in several different species of ape combined with sequence analysis of DGCR6 in a number of different primate species indicate that the duplication is at least 12 million years old and may date back to before the divergence of Catarrhines from Platyrrhines, 35 mya. These data suggest that there has been selective evolutionary pressure toward the functional maintenance of both paralogs. Interestingly, a full-length HERV-K provirus integrated into the locus after the divergence of chimpanzees and humans.

Original languageEnglish (US)
Pages (from-to)208-217
Number of pages10
JournalGenome research
Issue number2
StatePublished - 2001

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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