Stowers Institute for Medical Research, Kansas City, MO 64110 Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS 66160 Department of Microbiology, Immunology and Cancer Biology, University of Virginia School of Medicine, Charlottesville, VA 22908.
Mol Biol Cell. 2014 Feb;25(3):337-46. doi: 10.1091/mbc.E13-07-0377. Epub 2013 Dec 4.
The cohesin complex contributes to ribosome function, although the molecular mechanisms involved are unclear. Compromised cohesin function is associated with a class of diseases known as cohesinopathies. One cohesinopathy, Roberts syndrome (RBS), occurs when a mutation reduces acetylation of the cohesin Smc3 subunit. Mutation of the cohesin acetyltransferase is associated with impaired rRNA production, ribosome biogenesis, and protein synthesis in yeast and human cells. Cohesin binding to the ribosomal DNA (rDNA) is evolutionarily conserved from bacteria to human cells. We report that the RBS mutation in yeast (eco1-W216G) exhibits a disorganized nucleolus and reduced looping at the rDNA. RNA polymerase I occupancy of the genes remains normal, suggesting that recruitment is not impaired. Impaired rRNA production in the RBS mutant coincides with slower rRNA cleavage. In addition to the RBS mutation, mutations in any subunit of the cohesin ring are associated with defects in ribosome biogenesis. Depletion or artificial destruction of cohesion in a single cell cycle is associated with loss of nucleolar integrity, demonstrating that the defects at the rDNA can be directly attributed to loss of cohesion. Our results strongly suggest that organization of the rDNA provided by cohesion is critical for formation and function of the nucleolus.
着丝粒复合物有助于核糖体的功能,尽管涉及的分子机制尚不清楚。着丝粒功能受损与一类称为着丝粒病的疾病有关。当突变降低着丝粒 Smc3 亚基的乙酰化时,就会发生一种着丝粒病,即罗伯茨综合征(RBS)。酵母和人类细胞中,着丝粒乙酰转移酶的突变与 rRNA 产生、核糖体生物发生和蛋白质合成受损有关。从细菌到人类细胞,着丝粒与核糖体 DNA(rDNA)的结合在进化上是保守的。我们报告酵母中的 RBS 突变(eco1-W216G)表现出核仁紊乱和 rDNA 环的环减少。RNA 聚合酶 I 对基因的占据仍然正常,表明招募没有受损。RBS 突变体中 rRNA 产生减少与 rRNA 切割变慢同时发生。除了 RBS 突变外,着丝粒环的任何亚基的突变都与核糖体生物发生缺陷有关。在单个细胞周期中耗尽或人为破坏凝聚会导致核仁完整性丧失,这表明 rDNA 中的缺陷可以直接归因于凝聚的丧失。我们的研究结果强烈表明,由凝聚提供的 rDNA 的组织对于核仁的形成和功能至关重要。