Nakama Mina, Imanaka Bunta, Kimoto Yuma
Graduate School of Science and Engineering Research, Kindai University, Osaka, Japan.
Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
Biochem Biophys Rep. 2025 Apr 8;42:102002. doi: 10.1016/j.bbrep.2025.102002. eCollection 2025 Jun.
elements are commonly located in the introns of primate genomes and, once transcribed, can alter splicing patterns. The insertion of an antisense element into intron 9 was shown to enhance exon 10 skipping in a previously developed minigene model including exon 9-exon 11. This study investigates two intrinsic original s' role located in the intron in sequence using the same minigene splicing system. The deletion of intrinsic full Sx originally located in intron 10 resulted in intron 10 retention, whereas the partial Jb or antisense Sx in the same intron was not sufficient for this process. Even normal splicing transcript wasn't shown without intrinsic full Sx. Exon skipping was induced under the condition in which the intronic splice out prior to. Also, exon skipping was required with two close elements with inverse orientations such as head-to-head and tail-to-tail in our minigene model. Intron retention seems to have been affected by shortening of introns or deletion of 's splicing regulatory elements. Either way, are associated with human gene expression incorporating themself and adopting in the human genome splicing system.
元件通常位于灵长类基因组的内含子中，一旦转录，就会改变剪接模式。在一个先前开发的包含外显子9至外显子11的小基因模型中，向内含子9中插入一个反义元件可增强外显子10的跳跃。本研究使用相同的小基因剪接系统，研究了位于内含子序列中的两个内在原件的作用。最初位于内含子10中的完整Sx的缺失导致内含子10保留，而同一内含子中的部分Jb或反义Sx不足以导致此过程。没有完整的内在Sx，甚至不会出现正常的剪接转录本。在内含子先于外显子被剪接出去的条件下，会诱导外显子跳跃。此外，在我们的小基因模型中，两个具有相反方向（如头对头和尾对尾）的紧密元件也需要外显子跳跃。内含子保留似乎受到内含子缩短或剪接调控元件缺失的影响。无论哪种方式，这些元件都与人类基因表达相关，它们融入并采用人类基因组剪接系统。
