人存活运动神经元基因产生的环状 RNA 的特征。
Characteristics of circular RNAs generated by human Survival Motor Neuron genes.
机构信息
Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States of America.
Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States of America.
出版信息
Cell Signal. 2020 Sep;73:109696. doi: 10.1016/j.cellsig.2020.109696. Epub 2020 Jun 15.
Abstract
Circular RNAs (circRNAs) belong to a diverse class of stable RNAs expressed in all cell types. Their proposed functions include sponging of microRNAs (miRNAs), sequestration and trafficking of proteins, assembly of multimeric complexes, production of peptides, and regulation of transcription. Backsplicing due to RNA structures formed by an exceptionally high number of Alu repeats lead to the production of a vast repertoire of circRNAs by human Survival Motor Neuron genes, SMN1 and SMN2, that code for SMN, an essential multifunctional protein. Low levels of SMN due to deletion or mutation of SMN1 result in spinal muscular atrophy (SMA), a major genetic disease of infants and children. Mild SMA is also recorded in adult population, expanding the spectrum of the disease. Here we review SMN circRNAs with respect to their biogenesis, sequence features, and potential functions. We also discuss how SMN circRNAs could be exploited for diagnostic and therapeutic purposes.
摘要
环状 RNA（circRNAs）属于在所有细胞类型中表达的一类稳定的 RNA。它们的功能包括 miRNA（miRNAs）的海绵作用、蛋白质的隔离和运输、多聚体复合物的组装、肽的产生以及转录的调节。由于 RNA 结构形成的异常高数量的 Alu 重复，导致人类生存运动神经元基因 SMN1 和 SMN2 产生大量的 circRNAs，这些基因编码 SMN，一种必需的多功能蛋白。由于 SMN1 的缺失或突变导致 SMN 水平降低，导致脊髓性肌萎缩症（SMA），这是一种婴儿和儿童的主要遗传疾病。轻度 SMA 也在成年人群中记录，扩大了疾病的范围。在这里，我们将根据它们的生物发生、序列特征和潜在功能来综述 SMN circRNAs。我们还讨论了如何利用 SMN circRNAs 进行诊断和治疗目的。
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