a brain region-specific predictive gene map for autism derived by profiling a reference gene set自闭症大脑的特定区域预测基因地图导出了分析参考基因集.pdfVIP

A Brain Region-Specific Predictive Gene Map for Autism Derived by Profiling a Reference Gene Set 1 1 1 1 1 Ajay Kumar , Catherine Croft Swanwick , Nicole Johnson , Idan Menashe , Saumyendra N. Basu , 2 1 Michael E. Bales , Sharmila Banerjee-Basu * 1 MindSpec, McLean, Virginia, United States of America, 2 NMBI Systems, New York, New York, United States of America Abstract Molecular underpinnings of complex psychiatric disorders such as autism spectrum disorders (ASD) remain largely unresolved. Increasingly, structural variations in discrete chromosomal loci are implicated in ASD, expanding the search space for its disease etiology. We exploited the high genetic heterogeneity of ASD to derive a predictive map of candidate genes by an integrated bioinformatics approach. Using a reference set of 84 Rare and Syndromic candidate ASD genes (AutRef84), we built a composite reference profile based on both functional and expression analyses. First, we created a functional profile of AutRef84 by performing Gene Ontology (GO) enrichment analysis which encompassed three main areas: 1) neurogenesis/projection, 2) cell adhesion, and 3) ion channel activity. Second, we constructed an expression profile of AutRef84 by conducting DAVID analysis which found enrichment in brain regions critical for sensory information processing (olfactory bulb, occipital lobe), executive function (prefrontal cortex), and hormone secretion (pituitary). Disease specificity of this dual AutRef84 profile was demonstrated by comparative analysis with control, diabetes, and non-specific gene sets. We then screened the hum