PT  - JOURNAL ARTICLE
AU  - Aygün, Nil
AU  - Elwell, Angela L.
AU  - Liang, Dan
AU  - Lafferty, Michael J.
AU  - Cheek, Kerry E.
AU  - Courtney, Kenan P.
AU  - Mory, Jessica
AU  - Hadden-Ford, Ellie
AU  - Krupa, Oleh
AU  - de la Torre-Ubieta, Luis
AU  - Geschwind, Daniel H.
AU  - Love, Michael I.
AU  - Stein, Jason L.
TI  - Genetic influences on cell type specific gene expression and splicing during neurogenesis elucidate regulatory mechanisms of brain traits
AID  - 10.1101/2020.10.21.349019
DP  - 2020 Jan 01
TA  - bioRxiv
PG  - 2020.10.21.349019
4099  - http://biorxiv.org/content/early/2020/10/28/2020.10.21.349019.short
4100  - http://biorxiv.org/content/early/2020/10/28/2020.10.21.349019.full
AB  - Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-relevant traits via gene expression and alternative splicing is mainly performed in bulk post-mortem adult tissue. However, genetic risk loci are enriched in regulatory elements of cells present during neocortical differentiation, and regulatory effects of risk variants may be masked by heterogeneity in bulk tissue. Here, we map e/sQTLs and allele specific expression in primary human neural progenitors (n=85) and their sorted neuronal progeny (n=74). Using colocalization and TWAS, we uncover cell-type specific regulatory mechanisms underlying risk for these traits.Competing Interest StatementThe authors have declared no competing interest.