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Characteristics of circular RNAs generated by human Survival Motor Neuron genes

机译:人类生存电动机神经元基因产生的圆形RNA的特征

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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 multi-functional 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.
机译:圆形RNA(Circrna)属于在所有细胞类型中表达的多种稳定RNA。 其所提出的功能包括微小RNA(miRNA)的海绵,封存和贩运蛋白质,多聚体复合物组合,肽的生产,以及转录的调节。 由于通过异常大量的Alu重复而形成的RNA结构导致通过人类生存电动机神经元基因,SMN1和SMN2,SMN的代码,SMN,基本多功能蛋白的代码产生巨大的Circrnas的生产。 由于SMN1的缺失或突变导致SMN1的突变导致脊柱肌肉萎缩(SMA),婴儿和儿童的主要遗传疾病导致的SMN水平低。 MILD SMA也被记录在成人人口中,扩大了疾病的谱。 在这里,我们审查了SMN Circrnas关于它们的生物生成,序列特征和潜在功能。 我们还讨论了SMN Circrnas如何剥削诊断和治疗目的。

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