脊髓性肌萎缩症基因转录本的调查。
A survey of transcripts generated by spinal muscular atrophy genes.
机构信息
Department of Biomedical Science, Iowa State University, Ames, IA, 50011, United States of America.
Department of Biomedical Science, Iowa State University, Ames, IA, 50011, United States of America.
出版信息
Biochim Biophys Acta Gene Regul Mech. 2020 Aug;1863(8):194562. doi: 10.1016/j.bbagrm.2020.194562. Epub 2020 May 6.
Abstract
Human Survival Motor Neuron (SMN) genes code for SMN, an essential multifunctional protein. Complete loss of SMN is embryonic lethal, while low levels of SMN lead to spinal muscular atrophy (SMA), a major genetic disease of children and infants. Reduced levels of SMN are associated with the abnormal development of heart, lung, muscle, gastro-intestinal system and testis. The SMN loci have been shown to generate a vast repertoire of transcripts, including linear, back- and trans-spliced RNAs as well as antisense long noncoding RNAs. However, functions of the majority of these transcripts remain unknown. Here we review the nature of RNAs generated from the SMN loci and discuss their potential functions in cellular metabolism.
摘要
人类生存运动神经元（SMN）基因编码 SMN，这是一种必需的多功能蛋白。SMN 的完全缺失是胚胎致死性的，而 SMN 水平低则导致脊髓性肌萎缩症（SMA），这是一种主要的儿童和婴儿遗传性疾病。SMN 水平降低与心脏、肺、肌肉、胃肠系统和睾丸的异常发育有关。已经表明 SMN 基因座产生了大量的转录本，包括线性、反向和转位拼接的 RNA 以及反义长非编码 RNA。然而，这些转录本的大部分功能仍然未知。在这里，我们回顾了从 SMN 基因座产生的 RNA 的性质，并讨论了它们在细胞代谢中的潜在功能。
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