Sergi Consolato M, Minervini Fabrizio
Division of Anatomic Pathology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Biology (Basel). 2025 Jan 18;14(1):93. doi: 10.3390/biology14010093.
In 2001, two enzyme-encoding genes were recognized in the fruit fly . The genetic material, labeled and , encodes ribonuclease-type enzymes with slightly diverse target substrates. The human orthologue is . It is a gene, which has been positioned on chromosome 14q32.13. It contains 27 exons, which are linking the two enzyme domains. is found in all organ systems. It has been proved that it is paramount in human development. The protein determined by is a ribonuclease (RNase). This RNase belongs to the RNase III superfamily, formally known as 'endoribonuclease'. It has been determined that the function of RNase III proteins is set to identify and degrade double-stranded molecules of RNA. is a vital "housekeeping" gene. The multi-domain enzyme is key for small RNA processing. This enzyme functions in numerous pathways, including RNA interference paths, DNA damage renovation, and response to viruses. At the protein level, DICER is also involved in several human diseases, of which the pleuro-pulmonary blastoma is probably the most egregious entity. Numerous studies have determined the full range of DICER1 functions and the corresponding relationship to tumorigenic and non-neoplastic diseases. In fact, genetic mutations (somatic and germline) have been detected in and are genetically associated with at least two clinical syndromes: DICER1 syndrome and GLOW syndrome. The ubiquity of this enzyme in the human body makes it an exquisite target for nanotechnology-supported therapies and repurposing drug approaches.
2001年，在果蝇中发现了两个编码酶的基因。标记为 和 的遗传物质编码核糖核酸酶类型的酶，其靶底物略有不同。人类同源物是 。它是一个基因，定位于14号染色体q32.13。它包含27个外显子，连接两个酶结构域。 在所有器官系统中都有发现。事实证明，它在人类发育中至关重要。 所决定的蛋白质是一种核糖核酸酶（RNase）。这种核糖核酸酶属于核糖核酸酶III超家族，正式名称为“核糖核酸内切酶”。已经确定核糖核酸酶III蛋白的功能是识别和降解RNA的双链分子。 是一个至关重要的“管家”基因。这种多结构域酶是小RNA加工的关键。该酶在众多途径中发挥作用，包括RNA干扰途径、DNA损伤修复和对病毒的反应。在蛋白质水平上，DICER也与几种人类疾病有关，其中胸膜肺母细胞瘤可能是最严重的一种。大量研究已经确定了DICER1的全部功能以及与致瘤性和非肿瘤性疾病的对应关系。事实上，已经在 中检测到基因突变（体细胞和种系），并且这些突变与至少两种临床综合征在基因上相关：DICER1综合征和GLOW综合征。这种酶在人体中的普遍存在使其成为纳米技术支持的疗法和药物重新利用方法的理想靶点。
