Figure 5.

A large subset of mouse orthologues of the genes on human Chr. 22 deleted in DiGeorge/22q11 Deletion syndrome (22q11DS) are expressed in the developing or adult brain as well as sites of neural crest-mediated M/E induction at midgestation. (A) The location on mouse chromosome 16 of 28/32 orthologues of the genes in the minimal critical deleted region of human chromosome 22 whose heterozygous deletion causes 22q11DS. (B) PCR, in situ hybridization, immunoblotting, and immunlocalization identify expression of 22 of the 28 murine 22q11 orthologues in the developing and adult mouse brain. (C) Multiple 22q11 orthologues are expressed uniformly at sites of neural crest-mediated M/E induction as well as in the nascent central nervous system in the midgestation mouse embryo (E10.5). The purple-blue label shows in situ hybridization labeling of mRNA for several 22q11 genes at these sites, and the brown label shows the localization of proteins encoded by three of the deleted genes (panel A, B, adapted from Meechan et al., 2015; panel C adapted from Motahari et al., 2019).