核糖体基因位点的扰动是细胞功能障碍和人类疾病的核心。
Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease.
机构信息
Growth Control Laboratory, Research Division, Peter MacCallum Cancer Centre, St. Andrews Place, East Melbourne, Victoria 3002, Australia ; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria 3010, Australia.
Growth Control Laboratory, Research Division, Peter MacCallum Cancer Centre, St. Andrews Place, East Melbourne, Victoria 3002, Australia ; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria 3010, Australia ; Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria 3800, Australia ; Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3010, Australia ; Division of Cancer Medicine, Peter MacCallum Cancer Centre, St. Andrews Place, East Melbourne, Victoria 3002, Australia ; School of Biomedical Sciences, University of Queensland, Brisbane, Queensland 4072, Australia.
出版信息
Cell Biosci. 2014 Aug 19;4:43. doi: 10.1186/2045-3701-4-43. eCollection 2014.
Ribosomal RNA (rRNA) gene (rDNA) transcription by RNA Polymerase I (Pol I) drives cell growth and underlies nucleolar structure and function, indirectly coordinating many fundamental cellular processes. The importance of keeping rDNA transcription under tight control is reflected by the fact that deranged Pol I transcription is a feature of cancer and other human disorders. In this review, we discuss multiple aspects of rDNA function including the relationship between Pol I transcription and proliferative capacity, the role of Pol I transcription in mediating nucleolar structure and integrity, and rDNA/nucleolar interactions with the genome and their influence on heterochromatin and global genome stability. Furthermore, we discuss how perturbations in the structure of the rDNA loci might contribute to human disease, in some cases independent of effects on ribosome biogenesis.
核糖体 RNA (rRNA) 基因 (rDNA) 的转录由 RNA 聚合酶 I (Pol I) 驱动，它促进细胞生长，并为核仁结构和功能提供基础，间接协调许多基本的细胞过程。rDNA 转录受到严格控制的重要性反映在失调的 Pol I 转录是癌症和其他人类疾病的特征这一事实上。在这篇综述中，我们讨论了 rDNA 功能的多个方面，包括 Pol I 转录与增殖能力之间的关系，Pol I 转录在介导核仁结构和完整性方面的作用，以及 rDNA/核仁与基因组的相互作用及其对异染色质和全基因组稳定性的影响。此外，我们还讨论了 rDNA 基因座结构的改变如何导致人类疾病，在某些情况下，这与核糖体生物发生的影响无关。
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