A Unifying Genetic Model Constructed from the Results of Gene Set Analysis (IMAGE)
Caption
A unifying genetic model constructed from the results of gene set analysis. In SCZ pathogenesis, nine functional categories (oxidative stress response, genomic integrity, gene expression regulation, cell adhesion, neurotrophin signaling, kinase, synapse, small GTPase signaling, and endocytosis) are affected by germline CNVs. Disruption of genomic integrity and oxidative stress response induces genomic instability, which is involved in germline CNV formation and somatic CNV formation in neurons. The former accounts for an increased rate of de novo or rare CNVs, and the latter accounts for variable expressivity of CNVs.
Credit
Itaru Kushima and Norio Ozaki
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