Raf/LIN-45 C末端远端尾段负向调节秀丽隐杆线虫的信号转导。

IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Genetics Pub Date : 2024-11-06 DOI:10.1093/genetics/iyae152
Robert A Townley, Kennedy S Stacy, Fatemeh Cheraghi, Claire C de la Cova
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引用次数: 0

摘要

Raf 蛋白激酶是动物细胞中 ERK 信号转导通路的 Ras-GTP 传感元件,影响着细胞的增殖、分化和存活。在人类中,BRAF 和 RAF1 基因的体细胞和种系突变与恶性肿瘤和发育障碍有关。最近的研究揭示了活化的 Raf(由 Raf 和 14-3-3 二聚体组成的异源四聚体)的结构,并提出了 Raf C 端远端尾段(DTS)调节活化的可能性。我们利用草履虫 Raf 同源物 lin-45 研究了 DTS 的作用。截断 DTS 强化了 lin-45(S312A),这是一种弱功能增益等位基因,相当于在努南综合征患者中发现的 RAF1 突变。我们从遗传学角度定义了 LIN-45 DTS 的三个元素,分别称为活性位点结合序列(ASBS)、KTP 基序和芳香簇。在lin-45(S312A)的情况下,这些元素的突变都会增强其活性。我们使用 AlphaFold 预测了 LIN-45、苍蝇 Raf 和人类 BRAF 在活化的异构四聚体复合物中的 DTS 蛋白相互作用。我们提出了 LIN-45 DTS 元件的不同功能:i)ASBS 作为抑制剂结合激酶活性位点;ii)KTP 基序的磷酸化调节 DTS 与激酶结构域的相互作用;iii)芳香族簇将 DTS 固定在抑制构象中。人类 RAS 病相关的 BRAF 变体会影响 DTS 的残基,这与上述预测一致。这项工作证实了 Raf/LIN-45 DTS 负向调控优雅小鼠的信号转导,并为其在其他 Raf 蛋白中的功能提供了一个模型。
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The Raf/LIN-45 C-terminal distal tail segment negatively regulates signaling in Caenorhabditis elegans.

Raf protein kinases act as Ras-GTP sensing components of the ERK signal transduction pathway in animal cells, influencing cell proliferation, differentiation, and survival. In humans, somatic and germline mutations in the genes BRAF and RAF1 are associated with malignancies and developmental disorders. Recent studies shed light on the structure of activated Raf, a heterotetramer consisting of Raf and 14-3-3 dimers, and raised the possibility that a Raf C-terminal distal tail segment (DTS) regulates activation. We investigated the role of the DTS using the Caenorhabditis elegans Raf ortholog lin-45. Truncations removing the DTS strongly enhanced lin-45(S312A), a weak gain-of-function allele equivalent to RAF1 mutations found in patients with Noonan Syndrome. We genetically defined three elements of the LIN-45 DTS, which we termed the active site binding sequence (ASBS), the KTP motif, and the aromatic cluster. In the context of lin-45(S312A), the mutation of each of these elements enhanced activity. We used AlphaFold to predict DTS protein interactions for LIN-45, fly Raf, and human BRAF within the activated heterotetramer complex. We propose the following distinct functions for the LIN-45 DTS elements: (1) the ASBS binds the kinase active site as an inhibitor; (2) phosphorylation of the KTP motif modulates the DTS-kinase domain interaction; and (3) the aromatic cluster anchors the DTS in an inhibitory conformation. Human RASopathy-associated variants in BRAF affect residues of the DTS, consistent with these predictions. This work establishes that the Raf/LIN-45 DTS negatively regulates signaling in C. elegans and provides a model for its function in other Raf proteins.

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来源期刊
Genetics
Genetics GENETICS & HEREDITY-
CiteScore
6.90
自引率
6.10%
发文量
177
审稿时长
1.5 months
期刊介绍: GENETICS is published by the Genetics Society of America, a scholarly society that seeks to deepen our understanding of the living world by advancing our understanding of genetics. Since 1916, GENETICS has published high-quality, original research presenting novel findings bearing on genetics and genomics. The journal publishes empirical studies of organisms ranging from microbes to humans, as well as theoretical work. While it has an illustrious history, GENETICS has changed along with the communities it serves: it is not your mentor''s journal. The editors make decisions quickly – in around 30 days – without sacrificing the excellence and scholarship for which the journal has long been known. GENETICS is a peer reviewed, peer-edited journal, with an international reach and increasing visibility and impact. All editorial decisions are made through collaboration of at least two editors who are practicing scientists. GENETICS is constantly innovating: expanded types of content include Reviews, Commentary (current issues of interest to geneticists), Perspectives (historical), Primers (to introduce primary literature into the classroom), Toolbox Reviews, plus YeastBook, FlyBook, and WormBook (coming spring 2016). For particularly time-sensitive results, we publish Communications. As part of our mission to serve our communities, we''ve published thematic collections, including Genomic Selection, Multiparental Populations, Mouse Collaborative Cross, and the Genetics of Sex.
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