AccessMedicine's Image of the Week: Functional Characteristics and Developmental Convergence of Autism Spectrum Disorders (ASDs) Associated Genes
From: Harrison's Principles of Internal Medicine, 20e: Chapter 443: Biology of Psychiatric Disorders
Functional characteristics and developmental convergence of autism spectrum disorders (ASDs) associated genes: genes associated with risk for ASD based on recurrent de novo mutations are shown in A and B (Sanders et al: Neuron 2015). Those genes encoding proteins meeting criteria for the highest confidence statistical association (false discovery rate [FDR] < 0.01) are highlighted with respect to their putative functions. Additional interacting and functionally related molecules that do not meet this threshold are shown in green. As a group, genes with FDR <0.01 carry large effects, conveying approximately a twentyfold increase in risk. Multiple gene ontology analyses of ASD genes have highlighted both pre- and postsynaptic molecules (A) and chromatin modifiers (B) as points of enrichment. In C, an alternative strategy for grouping ASD risk genes is highlighted, based on their spatiotemporal expression patterns as opposed to putative functions. One analytic strategy, illustrated in C, leveraged only high confidence ASD genes and examined their developmental expression patterns using the BrainSpan dataset. Convergence for ASD risk was identified in deep layer (V and VI) excitatory neurons in mid-fetal human cortex. Multiple analyses have similarly found glutamatergic neurons in mid-fetal prefrontal cortex as one point of convergence, with somewhat less agreement on layer-specificity and potential additional spatiotemporal points of convergence. (Figure drawn by Montana Morris and Sarah Pyle.)
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