36SINGLE CELL RNA SEQUENCING OF EMBRYONIC MOUSE CORTEX REVEALS OVERLAPPING AND DISTINCT PATTERNS OF ASD RISK GENE EXPRESSION

MUHLE, REBECCA ; YIM, KRISTINA ; HILL-TERÁN, GUILLERMINA; MALISON, KATHLEEN; NOONAN, JAMES

Glasgow, Escocia

Congreso; XXVIth World Congress of Psychiatric Genetics (WCPG); 2018

Autism Spectrum Disorder (ASD) is a lifelong and often debilitating neurodevelopmental condition. Genetic risk factors for ASD exhibit locus heterogeneity, and researchers have identified dozens of genes associated with ASD risk at genome-wide significance. Deciphering how these genes might contribute to ASD risk is still a major task. While many ASD risk genes encode proteins with known neuronal functions, other ASD risk genes encode proteins that regulate the expression of other genes. Regulatory ASD risk genes may act as ASD risk gene coordinators, regulating the expression of other ASD risk genes during neurodevelopment. Consistent with this, we previously showed in a model of early brain development that decreased levels of the ASD risk-associated regulatory gene CHD8 dysregulates the expression of other ASD risk genes. The developing brain has a complex and tightly orchestrated composition of cell types, however, and which cell types express one or more ASD risk genes, at what stage of neurodevelopment, and in which cellular compartment are unanswered questions.