Fig. 2

rs1800547 and rs17651213 regulates the haplotype-specific inclusion of MAPT exon 3. a Splice factor binding site prediction using three different online tools: SFmap, SpliceAid2 and ESE. H1/H2 alleles from SNP rs1800547 and rs17651213 both feature haplotype-specific splice factor binding sites and share common binding sites. (5′SS: 5′ splice site, 3′SS: 3′ splice site). b Left panel: a schematic representation illustrating the combinations of SNPs rs1800547 and rs17651213 exchanged between the H1 and H2 pMAPT vectors. Right panel: the corresponding pMAPT exon 3 expression in SK-N-F1 neuroblastoma cells as measured by qPCR. Exon 3 expression from the H2WT allele (0.81 ± 0.16, n = 8) was 1.76 fold higher when compared to the H1WT allele (0.46 ± 0.12, n = 8). No difference in exon 3 expression was observed between the H1–2-2 (0.62 ± 0.05, n = 4) and H2–1-1 (0.64 ± 0.13, n = 4) vectors. Exon 3 expression was 3.78 fold higher from the H2–1-2 (1.20 ± 0.12, n = 4) vector when compared to the H1–2-1 (0.32 ± 0.05, n = 4) vector. Exon 3 expression was 2.52 fold higher from the H1–1-2 (0.95 ± 0.09, n = 4) vector when compared to the H2–2-1 (0.38 ± 0.15, n = 4) vector. Statistical significance was determined using one-way ANOVA followed by Bonferroni correction (*** p < 0.001, **** p < 0.0001). Error bars represent standard deviation