Fig. 3.
From: Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies
Alternative transcripts of SNCA and MAPT, and the stem loop near MAPT exon 10 donor splice site. a Five SNCA alternative transcripts resulting from skipping of exon(s) 3, 4, and/or 5. b Tau isoforms with three (3R) or four (4R) C-terminal microtubule binding repeats due to alternative splicing of MAPT exon 10. Self-complementary stem loop at the 3’-end of exon 10 and the 5’-end of intron 10 and a strong intron splicing silencer (ISS) interfere with the pairing of U1 small nuclear RNA to MAPT exon 10, weakening exon 10 inclusion. The intronic mutation IVS10+16 C>T (as indicated by arrows) disrupts the ISS encoded by sequence 5’-ucacacgu-3’ and increases MAPT exon 10 inclusion. Exonic sequences are shown in capital letters; intronic sequences are in lower cases. Ex: exon; R: repeat.