Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus

摘要

Schematic diagram showing the human chromosome 22q11.2 region and the syntenic region of mouse chromosome 16qA13. Each black box represents one gene. Red horizontal bars indicate the hemizygous genomic deletion most frequently (~90%) found in human 22q11.2DS and syntenic mouse genomic region. A gray horizontal bar indicates the 1.5-Mb region less frequently (~7%) affected in 22q11.2DS. Volcano plot of the mRNA microarray analysis data of the hippocampus. The -axis shows log2 of the fold change (      vs. WT). The genes in the deleted region are depicted in red. The horizontal dashed line indicates the -value of FDR = 0.05. miRNA host genes ( and ) and miR-185 target gene were upregulated in      hippocampus (see “Results”). The microarray analysis of miRNA expression in the hippocampus. Top: volcano plot of the microarray analysis data. The horizontal dashed line indicates the -value of FDR = 0.05. Bottom: histogram shows the distribution of the probe sets across the fold change. Quantitative RT-PCR analysis of mRNA from the hippocampus of WT (  = 5) and      (  = 5) mice. The expression of all the genes in deleted region were significantly decreased in the hippocampus of      mice (  t test). gene was used as a control.