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Average expression is scaled across cell types, and deeper colors represent higher gene expression. Related to Figure 3.Ī-B) Expression of RSRC1 in neural cell types detected by snuc-seq in A. RSRC1 is expressed in multiple neural cell types, including neurons. Grey lines indicate average expression of empty vector control. Exon2:0N ratio in SH-SY5Y cells following SF/RBP overexpression. N = 3, Student’s t-test * p < 0.05, *** p < 0.001, n.s = not significantĬ-D) Expression fold change (FC) of the C. EV = Empty vector control, OE = SF/RBP overexpression. Student’s t-test * p < 0.05, *** p < 0.001.ī) Representative images of western blot validation of SF/RBP overexpression in SH-SY5Y cells with densitometry quantification, normalized to GAPDH (SF/GAPDH).

Green line indicates average expression of empty vector control. Related to Figure 2.Ī) Log 10 fold change (FC) of each SF/RBP following overexpression in SH-SY5Y cells, normalized to ACTB endogenous control. SF/RBP overexpression influences MAPT splicing.

MSBB data.į-G) Pearson’s correlation coefficients between SF/RBP expression and MAPT exons 2, 3 and 10 PSI values, split between AD and control diagnosis in F. MSBB data.ĭ-E) Pearson’s correlation coefficients between SF/RBP expression and MAPT exon 2 and exon 10 PSI values split between MAPT 17q21.31 H1H1 an H2H2 haplotypes in D. Related to Figure 1.Ī) Pearson’s correlation coefficients between SF/RBP expression and MAPT exon 2, 3 and 10 PSI values following unsupervised hierarchical clustering in ROSMAP and MSBB data.ī-C) Pearson’s correlation coefficients between SF/RBP expression and MAPT exon 3 PSI split between MAPT 17q21.31 H1H1 an H2H2 haplotypes in B. SF/RBP correlations with MAPT exons 2 and 10 inclusion are highly correlated between haplotypes and disease status. Related to Figure 1.Ī) MAPT exon expression (RPKM) for each AMP-AD MSBB brain region.ī-C) MAPT exon expression (RPKM) in temporal cortex (TCX, B.) and cerebellum (CBM, C.) in the AMP-AD MAYO cohort.ĭ) PSI values for MAPT exons 2, 3 and 10 for each MSBB brain region, split by 17q21.31 haplotype.Į) PSI values for MAPT exons 2, 3 and 10 for both MAYO brain regions and ROSMAP PFC, split by 17q21.31 haplotype.į-H) Total MAPT expression (RPKM) for each 17q21.31 haplotype in F. MAPT exon 3 inclusion varies between 17q21.31 haplotypes in multiple brain regions. Supplementary Figures: Supplementary Figure 1.