Fig. 2

SORL1-38b is expressed in cerebellar Purkinje cells. a RT-PCR analysis showing expression of SORL1-38b (primers E35–E38b) and control SORL1 transcripts (primers E2–E3) in brain regions. b qPCR analysis of SORL1-38b expression in human brain regions relative to housekeeping genes HPRT1, TFRC and TXNL1. Data are depicted as fold change relative to expression in total brain. Cer cerebellum, Front cortex frontal cortex, Hip hippocampus, Temp lobe temporal lobe. c Schematic representation showing how custom-designed BaseScope double-Z probes target the junctions between exon 38 and 38b (E38E38b), and between exon 38 and 39 (E38E39) to specifically detect E38b-containing transcripts. d BaseScope analysis using E38E38b probe confirms the presence of exon 38b-containing transcripts in human cerebellum. PC Purkinje cells, GC granule cells. Scale bar, 20 μm. e BaseScope images showing that E38E39 probe is mainly localized in the soma of PCs (bottom panel), whereas E38E38b probe signal is found in the soma but also distributed in the dendrites of PCs (top panel). Scale bar, 50 μm. f Quantification of the number of SORL1-38b (E38E38b) and SORL1-fl (E38E39) transcripts localized in the dendrites of PCs. Individual data points represent quantification from 3 independent brains, and in each section 25 random pictures showing homologous cerebellum regions were used for the analysis (n = 225 cells/probe). ****p < 0.0001