Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA 90095, USA.
Proc Natl Acad Sci U S A. 2010 Oct 19;107(42):18161-6. doi: 10.1073/pnas.1005595107. Epub 2010 Oct 4.
MicroRNAs (miRNAs) are a class of small, noncoding RNAs that function as posttranscriptional regulators of gene expression. Many miRNAs are expressed in the developing brain and regulate multiple aspects of neural development, including neurogenesis, dendritogenesis, and synapse formation. Rett syndrome (RTT) is a progressive neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). Although Mecp2 is known to act as a global transcriptional regulator, miRNAs that are directly regulated by Mecp2 in the brain are not known. Using massively parallel sequencing methods, we have identified miRNAs whose expression is altered in cerebella of Mecp2-null mice before and after the onset of severe neurological symptoms. In vivo genome-wide analyses indicate that promoter regions of a significant fraction of dysregulated miRNA transcripts, including a large polycistronic cluster of brain-specific miRNAs, are DNA-methylated and are bound directly by Mecp2. Functional analysis demonstrates that the 3' UTR of messenger RNA encoding Brain-derived neurotrophic factor (Bdnf) can be targeted by multiple miRNAs aberrantly up-regulated in the absence of Mecp2. Taken together, these results suggest that dysregulation of miRNAs may contribute to RTT pathoetiology and also may provide a valuable resource for further investigations of the role of miRNAs in RTT.
微小 RNA(miRNA)是一类小的非编码 RNA,作为基因表达的转录后调节剂发挥作用。许多 miRNA 在发育中的大脑中表达,并调节神经发育的多个方面,包括神经发生、树突发生和突触形成。雷特综合征(RTT)是一种由编码甲基化-CpG 结合蛋白 2(MECP2)的基因突变引起的进行性神经发育障碍。尽管 Mecp2 已知作为一个全局转录调节剂,但直接受 Mecp2 调控的大脑中的 miRNA 尚不清楚。使用大规模平行测序方法,我们已经鉴定出在 Mecp2 缺失小鼠的小脑中,在严重神经症状出现之前和之后表达改变的 miRNA。体内全基因组分析表明,失调 miRNA 转录物的启动子区域,包括大脑特异性 miRNA 的大多顺反子簇,DNA 甲基化并直接与 Mecp2 结合。功能分析表明,编码脑源性神经营养因子(Bdnf)的信使 RNA 的 3'UTR 可以被多个 miRNA 靶向,这些 miRNA 在缺乏 Mecp2 的情况下异常上调。综上所述,这些结果表明 miRNA 的失调可能导致 RTT 发病机制,并且也可能为进一步研究 miRNA 在 RTT 中的作用提供有价值的资源。
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