Mueller Rachel Lockridge, Adams Alexander Nichols
Department of Biology, Colorado State University, Fort Collins, CO, 80523-1878, USA.
J Mol Evol. 2025 Aug;93(4):474-477. doi: 10.1007/s00239-025-10261-9. Epub 2025 Aug 1.
Intron splicing is a critical step that pre-mRNA transcripts undergo to become mature mRNAs. Although long thought to occur in a single step, introns are now also known to be removed by a multi-step process called recursive splicing. In recursive splicing, the spliceosome removes the intron one segment at a time with segments defined by discreet sequences called recursive splice sites. As each segment is removed, the remaining downstream intronic sequence is brought into contact with the upstream exon. Recursive splicing can be detected through RNA-seq analysis because it produces a "sawtooth" pattern of read depth across intron length with peaks corresponding to sites in the ephemeral partially spliced introns where the remaining downstream intron segments contact the upstream exon. Recursive splicing can also be detected by RNA lariat sequencing and real-time imaging of single-cell transcriptional and splicing dynamics. These methods have been applied to fruit flies, humans, and mice, revealing that recursive splicing 1) increases in prevalence with intron length, and 2) increases splicing fidelity, particularly in long introns. However, intron lengths in the typically sized genomes of these model organisms fail to represent the diversity that exists across the tree of life. Species with gigantic genomes like salamanders and lungfishes have introns that are ten- to 50-fold longer. Future studies targeting recursive splicing in gigantic genomes will provide a unique perspective on its functional significance and will also reveal whether this splicing mechanism plays a role in overcoming constraints placed on transcriptional capacity and efficiency by enormous introns.
内含子剪接是前体mRNA转录本成熟为成熟mRNA所经历的关键步骤。尽管长期以来人们认为内含子剪接是一个单一步骤,但现在已知它也通过一种称为递归剪接的多步骤过程被去除。在递归剪接中,剪接体一次去除一个内含子片段,这些片段由称为递归剪接位点的离散序列定义。随着每个片段被去除,剩余的下游内含子序列与上游外显子接触。递归剪接可以通过RNA测序分析检测到,因为它会在整个内含子长度上产生一种“锯齿状”的读取深度模式,其峰值对应于短暂的部分剪接内含子中的位点,在这些位点上,剩余的下游内含子片段与上游外显子接触。递归剪接也可以通过RNA套索测序以及单细胞转录和剪接动力学的实时成像来检测。这些方法已应用于果蝇、人类和小鼠,结果表明递归剪接:1)随着内含子长度的增加而在发生率上增加;2)提高剪接保真度,特别是在长内含子中。然而,这些模式生物典型大小基因组中的内含子长度未能代表生命之树上存在的多样性。像蝾螈和肺鱼这样具有巨大基因组的物种,其内含子长度要长10到50倍。未来针对巨大基因组中递归剪接的研究将为其功能意义提供独特的视角,还将揭示这种剪接机制是否在克服巨大内含子对转录能力和效率所施加的限制方面发挥作用。