Disease relevance of Dgcr6

• We previously mapped Dgcr6 to mouse chromosome 16B1-B3, a region known to contain other mouse homologs of genes deleted in DiGeorge syndrome [1].

High impact information on Dgcr6

• Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus [2].
• The Dgcr6 transcript has a 594 nucleotide open reading frame (ORF) encoding 198 amino acids [1].
• Results show that Dgcr6 transcripts are abundant during mouse embryogenesis, from at least 7 days post coitum [1].
• Dgcr6 is the mouse homolog of human DGCR6, previously shown to be deleted in DiGeorge syndrome, a developmental field defect affecting the derivatives of the pharyngeal arches which is associated with 22q11.2 deletions [1].

Analytical, diagnostic and therapeutic context of Dgcr6

• 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 [2].

References