DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.

IF 3.5 3区 生物学 Q1 BIOLOGY Biology-Basel Pub Date : 2025-01-18 DOI:10.3390/biology14010093
Consolato M Sergi, Fabrizio Minervini
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Abstract

In 2001, two enzyme-encoding genes were recognized in the fruit fly Drosophila melanogaster. The genetic material, labeled Dicer-1 and Dicer-2, encodes ribonuclease-type enzymes with slightly diverse target substrates. The human orthologue is DICER1. It is a gene, which has been positioned on chromosome 14q32.13. It contains 27 exons, which are linking the two enzyme domains. DICER1 is found in all organ systems. It has been proved that it is paramount in human development. The protein determined by DICER1 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. DICER1 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 DICER1 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.

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Argonaute内切酶家族成员及其在儿童和青少年病理中的作用。
2001年,在果蝇黑腹果蝇中发现了两个酶编码基因。这种遗传物质被标记为Dicer-1和Dicer-2,它们编码核糖核酸酶类型的酶,其目标底物略有不同。人类的同源物是DICER1。这是一个位于染色体14q32.13上的基因。它包含27个连接两个酶结构域的外显子。DICER1存在于所有器官系统中。事实证明,它对人类的发展至关重要。DICER1测定的蛋白是核糖核酸酶(RNase)。这种核糖核酸酶属于核糖核酸内切酶III超家族,正式名称为核糖核酸内切酶。已经确定RNase III蛋白的功能是识别和降解RNA的双链分子。DICER1是一个重要的“管家”基因。多结构域酶是小RNA加工的关键。这种酶在许多途径中起作用,包括RNA干扰途径、DNA损伤修复和对病毒的反应。在蛋白水平上,DICER也与几种人类疾病有关,其中胸膜肺母细胞瘤可能是最令人震惊的实体。大量研究已经确定了DICER1的全部功能及其与致瘤性和非肿瘤性疾病的对应关系。事实上,DICER1中已经检测到基因突变(体细胞和种系),并且与至少两种临床综合征(DICER1综合征和GLOW综合征)有遗传相关性。这种酶在人体内的普遍存在使其成为纳米技术支持的治疗和重新利用药物方法的精美目标。
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来源期刊
Biology-Basel
Biology-Basel Biological Science-Biological Science
CiteScore
5.70
自引率
4.80%
发文量
1618
审稿时长
11 weeks
期刊介绍: Biology (ISSN 2079-7737) is an international, peer-reviewed, quick-refereeing open access journal of Biological Science published by MDPI online. It publishes reviews, research papers and communications in all areas of biology and at the interface of related disciplines. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material.
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