Fig. 1

Genes deleted in 22q11DS. a Schematic of the 22q11.2 region. Low copy repeats (LCRs) are shown as gray boxes: LCR A-D (not to scale). b Protein-coding genes (n = 56) are color-coded based on primary, putative, or family member functions as eleven groups. c mRNA (Prodh, Zdhhc8, Sept5, Gnb1l, Ranbp1, Dgcr8, Arvcf, Dgcr2, and Trmt2a) or protein (Ufd1l, Hira, Comt) expression of selected genes at mouse embryonic stage E10.5 [58, 73, 169]. d Expression localization of Cdc45, Ranbp1, and Sept5 in the entire cortical hemisphere of E14.5 embryos (left) and in a higher magnification (right) [60]. Expression pattern of Zdhhc8 is shown in the adult cerebellum (left) and the cortex (right) [310]. Immunolocalization of Ufd1l and Comt proteins in the hippocampus (left) and cerebellum (right) of the adult mouse brain are shown [58]. VZ ventricular zone, IZ intermediate zone, CP cortical plate, gc granular cell layer, P purkinje cell layer, ml molecular layer, Cb cerebellum, Ctx cortex. Hip hippocampus, Calb calbindin. Scale bars: Cdc45, Ranbp1, Sept5 = 250 μm, insets = 6.6x, Zdhhc8 = 50 μm (left) and 100 μm (right). Ufd/Comt: hippocampus (upper left) = 250 μm, insets (lower left) = 10x, cerebellum (right) = 25 μm