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Gene Review

Dgcr6  -  DiGeorge syndrome critical region gene 6

Mus musculus

Synonyms: AU044152, DiGeorge syndrome critical region 6 homolog, Protein DGCR6
 
 
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Disease relevance of Dgcr6

 

High impact information on Dgcr6

 

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

  1. A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome. Lindsay, E.A., Baldini, A. Cytogenet. Cell Genet. (1997) [Pubmed]
  2. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R.K., Shaffer, L., Lupski, J.R., Morrow, B.E., Lupski, J. Genome Res. (2001) [Pubmed]
 
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