Perron Marjorie P, Provost Patrick
Centre de Recherche en Rhumatologie et Immunologie, CHUL Research Center, Quebec, Canada.
Methods Mol Biol. 2009;487:369-85. doi: 10.1007/978-1-60327-547-7_18.
MicroRNAs (miRNAs) are key regulators of messenger RNA (mRNA) translation known to be involved in a wide variety of cellular processes. In fact, their individual importance is reflected in the diseases that may arise upon the loss, mutation or dysfunction of specific miRNAs. It has been appreciated only recently that diseases may also develop when the protein components of the miRNA machinery itself are affected. The core enzymes of the major protein complexes involved in miRNA biogenesis and function, such as the ribonucleases III (RNases III) Drosha and Dicer as well as Argonaute 2 (Ago2), appear to be essential. However, the accessory proteins of the miRNA pathway, such as the DiGeorge syndrome critical region gene 8 (DGCR8) protein, Exportin-5 (Exp-5), TAR RNA binding protein (TRBP) and fragile X mental retardation protein (FMRP), are each related, in various ways, to specific genetic diseases.
微小RNA（miRNA）是信使核糖核酸（mRNA）翻译的关键调节因子，已知其参与多种细胞过程。事实上，它们各自的重要性体现在特定miRNA缺失、突变或功能障碍时可能引发的疾病中。直到最近人们才认识到，当miRNA机制本身的蛋白质成分受到影响时，疾病也可能发生。参与miRNA生物合成和功能的主要蛋白质复合物的核心酶，如核糖核酸酶III（RNase III）Drosha和Dicer以及AGO2蛋白，似乎至关重要。然而，miRNA途径的辅助蛋白，如22q11.2微缺失综合征关键区域基因8（DGCR8）蛋白、输出蛋白5（Exp-5）、TAR RNA结合蛋白（TRBP）和脆性X智力低下蛋白（FMRP），都以各种方式与特定的遗传疾病相关。
