Skip to main content
Figure 1 | Molecular Autism

Figure 1

From: Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

Figure 1

Diverse Shank3 isoforms result from intragenic promoters and alternative splicing. (A) Multiple promoters of the Shank3 gene. Mouse Shank3 has 22 coding exons as illustrated. The exon-intron structure was deduced by cDNA AB231013 in mm10 mouse genome assembly (http://www.genome.ucsc.edu). The alternatively spliced exons are highlighted in red. The positions of intragenic promoters are shown as black arrows. Protein domains encoded by exons are labeled above the gene structure. (B–D) Extensive alternative splicing of Shank3 coding exons. (B) Shank3 exons 10–12 splice variants (E10–12S I to V). The pattern was deduced from the sequences of PCR products in Figure S2A (Additional file3). I: no splicing. II: exon 11 partially spliced out. III: exon 11 spliced out. IV: exons 11 to 12 spliced out. V: exons 10 to 12 spliced out. (C) Shank3e splice variants (E18S I to V). The pattern was deduced from the sequences of PCR products in Figure S2C (Additional file3). I: no splicing. II: exon 18 spliced out. III: exons 18, 21, and 22 (partial) spliced out. IV: exons 18 to 21 and 22 (partial) spliced out. (D) Shank3 exon 21 and exon 22 splice variants (E21–22S I to IV). The pattern was deduced from the sequences of PCR products in Figure S2E (Additional file3). I: no splicing. II: exon 22 (partial) spliced out. III: exon 21 spliced out. IV: exon 21 and exon 22 (partial) spliced out. (E) The predicted Shank3 protein isoforms were deduced from the combination of intragenic promoters and alternative splicing of mRNAs described above and in silico analysis. The binding positions of several well-known PSD proteins are shown by arrows. The epitope position for the Shank3 antibody used in this study is also indicated.

Back to article page