Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA.
Genetics. 2022 May 5;221(1). doi: 10.1093/genetics/iyac033.
Dosage compensation involves chromosome-wide gene regulatory mechanisms which impact higher order chromatin structure and are crucial for organismal health. Using a genetic approach, we identified Argonaute genes which promote dosage compensation in Caenorhabditis elegans. Dosage compensation in C. elegans hermaphrodites is initiated by the silencing of xol-1 and subsequent activation of the dosage compensation complex which binds to both hermaphrodite X chromosomes and reduces transcriptional output by half. A hallmark phenotype of dosage compensation mutants is decondensation of the X chromosomes. We characterized this phenotype in Argonaute mutants using X chromosome paint probes and fluorescence microscopy. We found that while nuclear Argonaute mutants hrde-1 and nrde-3, as well as mutants for the piRNA Argonaute prg-1, exhibit derepression of xol-1 transcripts, they also affect X chromosome condensation in a xol-1-independent manner. We also characterized the physiological contribution of Argonaute genes to dosage compensation using genetic assays and found that hrde-1 and nrde-3 contribute to healthy dosage compensation both upstream and downstream of xol-1.
剂量补偿涉及全染色体的基因调控机制,这些机制影响高级染色质结构,对生物健康至关重要。我们使用遗传方法鉴定了 Argonaute 基因,这些基因在秀丽隐杆线虫中促进剂量补偿。线虫雌雄同体的剂量补偿是通过沉默 xol-1 并随后激活剂量补偿复合物来启动的,该复合物结合雌雄同体的两条 X 染色体,并将转录产物减少一半。剂量补偿突变体的一个显著表型是 X 染色体去凝聚。我们使用 X 染色体染色探针和荧光显微镜在 Argonaute 突变体中对这种表型进行了表征。我们发现,尽管核 Argonaute 突变体 hrde-1 和 nrde-3 以及 piRNA Argonaute prg-1 的突变体表现出 xol-1 转录本的去抑制,但它们也以 xol-1 不依赖的方式影响 X 染色体的凝聚。我们还使用遗传分析来表征 Argonaute 基因对剂量补偿的生理贡献,发现 hrde-1 和 nrde-3 在 xol-1 的上下游都有助于健康的剂量补偿。