Fig. 5

Normal exon 1/2 splicing of human TREM2 pre-mRNA encoding the R47H variant. a Normal splicing of human TREM2 upon ectopic expression of the human wt or R47H mutant TREM2 locus in Trem2^−/− mice. b Normal exon 1/2 splicing of Trem2 in human induced pluripotent stem cell (iPSC)-derived microglia-like cells (iMG) with the wt TREM2 allele or heterozygous for the TREM2 R47H variant. c No aberrant splicing of the R47H variant in an AD case carrying one R47H mutant allele. d No reduction of total TREM2 mRNA in iMG with one R47H allele. (N = 4, +/-SEM, unpaired t test, non-significant.) e Allele specific qPCR demonstrates that the expression of the R47H allele is comparable to the wt allele in iMG. (N = 7, +/-SEM) f Allele specific qPCR demonstrates that the expression of the R47H allele is comparable to wt allele in human brains derived from R47H carriers. (N = 2). Customized probes were against Trem2 R47H and its neighbor region (see also Methods)