Figure 2.

Isoforms of PSEN1. (A) Schematic showing the three most predominant isoforms identified for PSEN1. (B) Ratio of 4 amino acid (aa) deletion to inclusion isoform of PSEN1. Abundance (percentage of total PSEN1 transcripts) of PSEN1 (C) exon 3b inclusion isoform, and (D) intron 8 retention isoform, across cohorts. No isoform exhibited significantly different ratio or abundance across cohorts (P > 0.05, one-way ANOVA, for each). (E) Distribution of various PSEN1 isoforms as a percentage of all full-length transcripts with canonical start and stop codons. All bars are mean and standard deviation. Sporadic Alzheimer’s disease (AD) n = 7, PSEN variant carrier n = 7, control n = 6.