Department of Biological Sciences, University of Wisconsin-Milwaukee, P.O. Box 413, Milwaukee, WI 53201USA.
Genetics. 2024 Nov 6;228(3). doi: 10.1093/genetics/iyae152.
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.
Raf 蛋白激酶在动物细胞中充当 Ras-GTP 感应成分,影响细胞增殖、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。最近的研究揭示了激活 Raf 的结构,它是由 Raf 和 14-3-3 二聚体组成的异四聚体,并提出了 Raf C 端远端尾部片段(DTS)调节激活的可能性。我们使用秀丽隐杆线虫中的 Raf 同源物 lin-45 研究了 DTS 的作用。去除 DTS 的截断强烈增强了 lin-45(S312A),这是一种弱功能获得等位基因,相当于 Noonan 综合征患者中发现的 RAF1 突变。我们通过遗传方法定义了 LIN-45 DTS 的三个元素,我们将其称为活性位点结合序列(ASBS)、KTP 基序和芳香族簇。在 lin-45(S312A)的背景下,这些元素中的每一个突变都增强了活性。我们使用 AlphaFold 预测了在激活的异四聚体复合物中 LIN-45、果蝇 Raf 和人类 BRAF 的 DTS 蛋白相互作用。我们提出了以下关于 LIN-45 DTS 元素的不同功能:(1) ASBS 作为抑制剂结合激酶活性位点;(2) KTP 基序的磷酸化调节 DTS-激酶结构域相互作用;和 (3) 芳香族簇将 DTS 锚定在抑制构象中。BRAF 中的人类 RASopathy 相关变异影响 DTS 的残基,与这些预测一致。这项工作确立了 Raf/LIN-45 DTS 负调节线虫中的信号转导,并为其在其他 Raf 蛋白中的功能提供了模型。