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Jason Stein and Nil Aygun
UNC Bioinformatics & Computational Biology Student Nil Aygun, in the laboratory of Dr. Jason Stein (Assistant Professor, Genetics and Neuroscience Center), published a paper titled “Brain-trait-associated variants impact cell-type specific gene regulation during neurogenesis” in the American Journal of Human Genetics (19 Aug 2021 issue).  The paper describes mapping e/sQTLs, and allele-specific expression in cultured cells representing two major developmental stages, primary human neural progenitors (n = 85) and their sorted neuronal progeny (n = 74), identifying numerous loci not detected in either bulk developing cortical wall or adult cortex. Using colocalization and genetic imputation via transcriptome-wide association, the lab uncovered cell-type-specific regulatory mechanisms underlying risk for brain-relevant traits that are active during neocortical differentiation. Specifically, the study identified a progenitor-specific eQTL for CENPW co-localized with common variant associations for cortical surface area and educational attainment.

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