Fig. 1: Splice donor site variant in intron 13 of the CACNA1H gene in patient F2688-1 results in retention of the entire intron in the mature mRNA. | Translational Psychiatry

Fig. 1: Splice donor site variant in intron 13 of the CACNA1H gene in patient F2688-1 results in retention of the entire intron in the mature mRNA.

From: Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

Fig. 1

A Schematic representation of intron 13 (In13) retention in the CACNA1H transcript showing the locations of primers for conventional RT-PCR. The PCR band corresponding to the wild-type allele is 370 bp long, whereas the band corresponding to the mutant allele is 526 pb long due to retention of intron 13 in the mature transcript. B Representative image of agarose gel electrophoresis showing conventional RT-PCR products. The 526 bp PCR product of the mutant allele is only observed in F2688-1-derived NPCs (n = 2 iPSC clones-derived NPCs). C Sanger sequencing of the cloned 526 bp PCR band confirmed intron 13 retention in the mature CACNA1H transcript. The location of the variant NM_001005407:c.2907+1 G>A is shown. D Quantitative RT-PCR demonstrated that the relative transcription levels of CACNA1H are not changed in F2688-1-derived NPCs (n = 2 iPSC clones-derived NPCs) compared with control NPCs (Controls, n = 4). The bar graph shows the median value and interquartile range for each group.

Back to article page