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. 2018 May 2;8:6937. doi: 10.1038/s41598-018-25204-2

Figure 4.

Figure 4

Exon 3 of TREM2 is flanked by a weak 5′ splice site that predisposes it to exon skipping. (A) Splice site scores of TREM2 5′ splice sites calculated using an online tool (see Methods). The 5′ splice site of exon 3 showed the lowest score. (B) Sequence of the 5′ splice site flanking to TREM2 exon 3 with and without mutations. NHD contains a GT-to-GC mutation. GC-opt contains a GT-to-GC mutation but is otherwise an optimized sequence of a 5′ splice site complementary to unmodified U1 snRNA. The red letters indicate nucleotides complementary to U1 snRNA. (C) Splicing patterns of TREM2 minigenes in HEK cells. The GC-opt minigene showed predominant inclusion of exon 3. Original gel images are shown in Supplementary Fig. S8.