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DPYSL2 Pr3SNP luciferase constructs containing low risk (LR) vs. high risk (HR) haplotypes drive different levels of reporter expression in vitro. (A) Schematic representation of the human DPYSL2 promoter region encompassing the 3-SNP haplotype (LR or HR) and a dinucleotide repeat (DNR) of fixed size (n = 11 repeats) (blue bar). (B) HR haplotype-containing constructs displayed lower luciferase expression than their LR counterparts when assayed in both cell types (HEK293 and primary cortical neurons). Each bar on the chart represents data derived from 6 technical replicates (HEK293) or 12 technical replicates (primary cortical neurons) and is consistent across two independent biological replicates. Error bar: standard error of the mean
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