Taylor Morgan, Marx Olivia, Norris Adam
Southern Methodist University, Dallas, TX 75205, USA.
Nucleic Acids Res. 2023 Oct 13;51(18):9610-9628. doi: 10.1093/nar/gkad665.
Gene expression is a multistep process and crosstalk among regulatory layers plays an important role in coordinating gene expression. To identify functionally relevant gene expression coordination, we performed a systematic reverse-genetic interaction screen in C. elegans, combining RNA binding protein (RBP) and transcription factor (TF) mutants to generate over 100 RBP;TF double mutants. We identified many unexpected double mutant phenotypes, including two strong genetic interactions between the ALS-related RBPs, fust-1 and tdp-1, and the homeodomain TF ceh-14. Losing any one of these genes alone has no effect on the health of the organism. However, fust-1;ceh-14 and tdp-1;ceh-14 double mutants both exhibit strong temperature-sensitive fertility defects. Both double mutants exhibit defects in gonad morphology, sperm function, and oocyte function. RNA-Seq analysis of double mutants identifies ceh-14 as the main controller of transcript levels, while fust-1 and tdp-1 control splicing through a shared role in exon inhibition. A skipped exon in the polyglutamine-repeat protein pqn-41 is aberrantly included in tdp-1 mutants, and genetically forcing this exon to be skipped in tdp-1;ceh-14 double mutants rescues their fertility. Together our findings identify a novel shared physiological role for fust-1 and tdp-1 in promoting C. elegans fertility and a shared molecular role in exon inhibition.
基因表达是一个多步骤过程,调控层之间的相互作用在协调基因表达中起着重要作用。为了确定功能相关的基因表达协调,我们在秀丽隐杆线虫中进行了系统的反向遗传相互作用筛选,结合RNA结合蛋白(RBP)和转录因子(TF)突变体,生成了100多个RBP;TF双突变体。我们鉴定出许多意外的双突变体表型,包括肌萎缩侧索硬化症相关RBP fust-1和tdp-1与同源结构域TF ceh-14之间的两种强遗传相互作用。单独缺失这些基因中的任何一个对生物体的健康都没有影响。然而,fust-1;ceh-14和tdp-1;ceh-14双突变体均表现出强烈的温度敏感型生育缺陷。两种双突变体在性腺形态、精子功能和卵母细胞功能方面均表现出缺陷。对双突变体的RNA测序分析确定ceh-14是转录水平的主要调控因子,而fust-1和tdp-1通过在外显子抑制中的共同作用控制剪接。多聚谷氨酰胺重复蛋白pqn-41中的一个跳跃外显子在tdp-1突变体中异常包含,而在tdp-1;ceh-14双突变体中通过基因手段迫使该外显子跳跃可挽救它们的生育能力。我们的研究结果共同确定了fust-1和tdp-1在促进秀丽隐杆线虫生育方面的一种新的共同生理作用以及在外显子抑制方面的一种共同分子作用。