Dysregulation of RNA polymerase I transcription during disease.
Dysregulation of RNA polymerase I transcription during disease.
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DOI：
10.1016/j.bbagrm.2012.10.014
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发表时间：
2013-03
影响因子：
4.7
通讯作者：
Pearson, R. B.
中科院分区：
文献类型：
--
作者：
Hannan, K. M.;Sanij, E.;Rothblum, L. I.;Hannan, R. D.;Pearson, R. B.
核糖体RNA基因的转录和核糖体RNA的后续加工是合成功能性核糖体的基本控制步骤。Pol I转录和核糖体生物发生的失调与多种人类疾病的病因学有关。由核糖体分子组成的功能突变或与RNA聚合酶I转录和加工密切相关的因子引起的疾病统称为核糖病。脊椎病通常很少见，治疗选择也极其有限，往往更倾向于治标不治本。其他更常见的疾病与细胞生长的深刻变化有关，如心脏肥大、萎缩或癌症。与核糖体疾病不同，这些疾病中RNA聚合酶I转录活性的改变主要是由于上游致癌途径的失调或癌基因或肿瘤抑制物在RNA聚合酶I转录装置本身水平上的直接调控。与核糖体蛋白和核糖体RNA加工或组装因子突变相关的核糖体病已被最近的优秀评论所涵盖。相反，在这里，我们回顾了我们目前对人类疾病的了解，这些疾病与RNA聚合酶I转录及其相关调控机构的失调有关，包括一些这种调控失调直接导致疾病的情况。我们还将提供洞察和讨论可能的治疗方法来治疗RNA聚合酶I转录异常的患者。本文是一期特刊的一部分，题为：由奇数波尔斯转录。
Transcription of the ribosomal RNA genes by the dedicated RNA polymerase I enzyme and subsequent processing of the ribosomal RNA are fundamental control steps in the synthesis of functional ribosomes. Dysregulation of Pol I transcription and ribosome biogenesis is linked to the etiology of a broad range of human diseases. Diseases caused by loss of function mutations in the molecular constituents of the ribosome, or factors intimately associated with RNA polymerase I transcription and processing are collectively termed ribosomopathies. Ribosomopathies are generally rare and treatment options are extremely limited tending to be more palliative than curative. Other more common diseases are associated with profound changes in cellular growth such as cardiac hypertrophy, atrophy or cancer. In contrast to ribosomopathies, altered RNA polymerase I transcriptional activity in these diseases largely results from dysregulated upstream oncogenic pathways or by direct modulation by oncogenes or tumor suppressors at the level of the RNA polymerase I transcription apparatus itself. Ribosomopathies associated with mutations in ribosomal proteins and ribosomal RNA processing or assembly factors have been covered by recent excellent reviews. In contrast, here we review our current knowledge of human diseases specifically associated with dysregulation of RNA polymerase I transcription and its associated regulatory apparatus, including some cases where this dysregulation is directly causative in disease. We will also provide insight into and discussion of possible therapeutic approaches to treat patients with dysregulated RNA polymerase I transcription. This article is part of a Special Issue entitled: Transcription by Odd Pols.
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