天然NPM1蛋白及其白血病突变体的功能

IF 12.8 1区 医学 Q1 HEMATOLOGY Leukemia Pub Date : 2024-12-17 DOI:10.1038/s41375-024-02476-4
Brunangelo Falini, Daniele Sorcini, Vincenzo Maria Perriello, Paolo Sportoletti
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摘要

核磷蛋白(NPM1)基因编码最丰富的核仁蛋白。由于其作为组蛋白伴侣和在细胞核和细胞质之间穿梭的特性,NPM1蛋白参与多种细胞功能,包括通过液-液相分离形成核核,调节核糖体的生物发生和运输,控制DNA修复和中心体复制以及对核核应激的反应。NPM1在大约30-35%的成人急性髓性白血病(AML)中发生突变。由于其独特的生物学和临床特征,npm1突变的AML在WHO第5版和ICC髓系恶性肿瘤分类中被视为一种独特的白血病实体。NPM1突变体在该蛋白的c端发生变化,导致其在白血病细胞的细胞质中脱位。在这里,我们还关注其生物学功能,讨论NPM1突变的小鼠模型以及在细胞质和核水平上发生的促进和维持NPM1突变的AML的各种机制
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Functions of the native NPM1 protein and its leukemic mutant
The nucleophosmin (NPM1) gene encodes for the most abundant nucleolar protein. Thanks to its property to act as histone chaperone and to shuttle between the nucleus and cytoplasm, the NPM1 protein is involved in multiple cellular function that are here extensively reviewed and include the formation of the nucleolus through liquid-liquid phase separation, regulation of ribosome biogenesis and transport, control of DNA repair and centrosome duplication as well as response to nucleolar stress. NPM1 is mutated in about 30–35% of adult acute myeloid leukemia (AML). Due to its unique biological and clinical features, NPM1-mutated AML is regarded as a distinct leukemia entity in the WHO 5th edition and ICC classifications of myeloid malignancies. The NPM1 mutant undergoes changes at the C-terminus of the protein that leads to its delocalization in the cytoplasm of the leukemic cells. Here, we focus also on its biological functions discussing the murine models of NPM1 mutations and the various mechanisms that occur at cytoplasmic and nuclear levels to promote and maintain NPM1-mutated AML
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来源期刊
Leukemia
Leukemia 医学-血液学
CiteScore
18.10
自引率
3.50%
发文量
270
审稿时长
3-6 weeks
期刊介绍: Title: Leukemia Journal Overview: Publishes high-quality, peer-reviewed research Covers all aspects of research and treatment of leukemia and allied diseases Includes studies of normal hemopoiesis due to comparative relevance Topics of Interest: Oncogenes Growth factors Stem cells Leukemia genomics Cell cycle Signal transduction Molecular targets for therapy And more Content Types: Original research articles Reviews Letters Correspondence Comments elaborating on significant advances and covering topical issues
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