Sadova A A, Panteleev D Yu, Pavlova G V
Institute of Higher Nervous Activity and Neurophysiology of RAS, Moscow, 117485 Russia.
Pirogov Russian National Research Medical University, Moscow, 117997 Russia.
Mol Biol (Mosk). 2023 May-Jun;57(3):411-426.
The genes coding for the rRNAs seem evolutionary conserved on the first glance, but astonish one with their variability in the structure and a variety of functions on closer examination. The non-coding parts of rDNA contain regulatory elements, protein binding sites, pseudogenes, repetitive sequences, and microRNA genes. Ribosomal intergenic spacers are not only in charge with the nucleolus morphology and functioning, namely, the rRNA expression and ribosome biogenesis, but also control nuclear chromatin formation thus mediating cell differentiation. The alterations in the expression of these non-coding regions of rDNA in response to environmental stimuli underlie the keen sense of a cell to various types of stressors. Malfunctioning of this process may result in a wide range of pathologies from oncology to neurodegenerative disease and mental illness. Here, we observe to-date materials on the structure and transcription of the ribosomal intergenic spacer in humans and its role in rRNA expression, in-born disease development, and cancer.
乍一看，编码核糖体RNA（rRNA）的基因似乎在进化上是保守的，但仔细研究就会发现，它们在结构上具有变异性且功能多样，令人惊讶。核糖体DNA（rDNA）的非编码部分包含调控元件、蛋白质结合位点、假基因、重复序列和微小RNA基因。核糖体基因间隔区不仅负责核仁的形态和功能，即rRNA的表达和核糖体生物发生，还控制核染色质的形成，从而介导细胞分化。rDNA这些非编码区域的表达响应环境刺激而发生改变，这是细胞对各种应激源敏锐感知的基础。这一过程的功能失调可能导致从肿瘤学到神经退行性疾病和精神疾病等广泛的病理状况。在此，我们观察了迄今为止关于人类核糖体基因间隔区的结构、转录及其在rRNA表达、先天性疾病发展和癌症中作用的资料。
