Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, 4058 Basel, Switzerland.
Faculty of Sciences, University of Basel, 4056 Basel, Switzerland.
Nucleic Acids Res. 2023 Jan 11;51(1):117-143. doi: 10.1093/nar/gkac1159.
Nucleoli are nuclear compartments regulating ribosome biogenesis and cell growth. In embryonic stem cells (ESCs), nucleoli containing transcriptionally active ribosomal genes are spatially separated from pericentromeric satellite repeat sequences packaged in largely repressed constitutive heterochromatin (PCH). To date, mechanisms underlying such nuclear partitioning and the physiological relevance thereof are unknown. Here we show that repressive chromatin at PCH ensures structural integrity and function of nucleoli during cell cycle progression. Loss of heterochromatin proteins HP1α and HP1β causes deformation of PCH, with reduced H3K9 trimethylation (H3K9me3) and HP1γ levels, absence of H4K20me3 and upregulated major satellites expression. Spatially, derepressed PCH aberrantly associates with nucleoli accumulating severe morphological defects during S/G2 cell cycle progression. Hp1α/β deficiency reduces cell proliferation, ribosomal RNA biosynthesis and mobility of Nucleophosmin, a major nucleolar component. Nucleolar integrity and function require HP1α/β proteins to be recruited to H3K9me3-marked PCH and their ability to dimerize. Correspondingly, ESCs deficient for both Suv39h1/2 H3K9 HMTs display similar nucleolar defects. In contrast, Suv4-20h1/2 mutant ESCs lacking H4K20me3 at PCH do not. Suv39h1/2 and Hp1α/β deficiency-induced nucleolar defects are reminiscent of those defining human ribosomopathy disorders. Our results reveal a novel role for SUV39H/HP1-marked repressive constitutive heterochromatin in regulating integrity, function and physiology of nucleoli.
核仁是调节核糖体生物发生和细胞生长的核区室。在胚胎干细胞 (ESC) 中,转录活性核糖体基因所在的核仁与定位于着丝粒周围卫星重复序列在空间上分离,这些重复序列包装在受抑制的组成型异染色质(PCH)中。迄今为止,这种核分区的机制及其生理相关性尚不清楚。在这里,我们表明 PCH 上的抑制性染色质确保了核仁在细胞周期进程中的结构完整性和功能。异染色质蛋白 HP1α 和 HP1β 的缺失导致 PCH 变形,H3K9 三甲基化 (H3K9me3) 和 HP1γ 水平降低,H4K20me3 缺失和主要卫星表达上调。空间上,去抑制的 PCH 异常与核仁结合,在 S/G2 细胞周期进程中核仁积累严重的形态缺陷。Hp1α/β 缺失减少细胞增殖、核糖体 RNA 生物合成和核仁磷蛋白(一种主要的核仁成分)的迁移。核仁的完整性和功能需要 HP1α/β 蛋白被招募到 H3K9me3 标记的 PCH 上,并且它们形成二聚体的能力。相应地,Suv39h1/2 H3K9 HMT 缺失的 ESC 也显示出类似的核仁缺陷。相比之下,缺乏 PCH 上 H4K20me3 的 Suv4-20h1/2 突变型 ESC 则没有。Suv39h1/2 和 Hp1α/β 缺失诱导的核仁缺陷类似于那些定义人类核糖体病的缺陷。我们的研究结果揭示了 SUV39H/HP1 标记的抑制性组成型异染色质在调节核仁的完整性、功能和生理学方面的新作用。