Tan June H, Fraser Andrew G
The Donnelly Centre, University of Toronto, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, Canada.
PLoS Genet. 2017 Nov 9;13(11):e1007033. doi: 10.1371/journal.pgen.1007033. eCollection 2017 Nov.
Normal development requires the right splice variants to be made in the right tissues at the right time. The core splicing machinery is engaged in all splicing events, but which precise splice variant is made requires the choice between alternative splice sites-for this to occur, a set of splicing factors (SFs) must recognize and bind to short RNA motifs in the pre-mRNA. In C. elegans, there is known to be extensive variation in splicing patterns across development, but little is known about the targets of each SF or how multiple SFs combine to regulate splicing. Here we combine RNA-seq with in vitro binding assays to study how 4 different C. elegans SFs, ASD-1, FOX-1, MEC-8, and EXC-7, regulate splicing. The 4 SFs chosen all have well-characterised biology and well-studied loss-of-function genetic alleles, and all contain RRM domains. Intriguingly, while the SFs we examined have varied roles in C. elegans development, they show an unexpectedly high overlap in their targets. We also find that binding sites for these SFs occur on the same pre-mRNAs more frequently than expected suggesting extensive combinatorial control of splicing. We confirm that regulation of splicing by multiple SFs is often combinatorial and show that this is functionally significant. We also find that SFs appear to combine to affect splicing in two modes-they either bind in close proximity within the same intron or they appear to bind to separate regions of the intron in a conserved order. Finally, we find that the genes whose splicing are regulated by multiple SFs are highly enriched for genes involved in the cytoskeleton and in ion channels that are key for neurotransmission. Together, this shows that specific classes of genes have complex combinatorial regulation of splicing and that this combinatorial regulation is critical for normal development to occur.
正常发育需要在正确的时间、正确的组织中产生正确的剪接变体。核心剪接机制参与所有剪接事件,但产生哪种精确的剪接变体需要在可变剪接位点之间进行选择——为了实现这一点,一组剪接因子(SFs)必须识别并结合前体mRNA中的短RNA基序。在秀丽隐杆线虫中,已知发育过程中的剪接模式存在广泛差异,但对于每个SF的靶标或多个SF如何联合调节剪接知之甚少。在这里,我们将RNA测序与体外结合试验相结合,以研究4种不同的秀丽隐杆线虫SFs,即ASD-1、FOX-1、MEC-8和EXC-7,如何调节剪接。所选的4种SFs都具有特征明确的生物学特性和经过充分研究的功能丧失遗传等位基因,并且都含有RRM结构域。有趣的是,虽然我们研究的SFs在秀丽隐杆线虫发育中具有不同的作用,但它们的靶标却表现出出乎意料的高度重叠。我们还发现,这些SFs的结合位点在同一前体mRNA上出现的频率比预期更高,这表明剪接存在广泛的组合控制。我们证实,多个SFs对剪接的调节通常是组合性的,并且表明这在功能上具有重要意义。我们还发现,SFs似乎以两种模式联合影响剪接——它们要么在同一内含子内紧密结合,要么似乎以保守的顺序结合到内含子的不同区域。最后,我们发现其剪接受多个SFs调节的基因在参与细胞骨架和神经传递关键离子通道的基因中高度富集。总之,这表明特定类别的基因具有复杂的剪接组合调节,并且这种组合调节对于正常发育的发生至关重要。