Taiwan International Graduate Program in Molecular Medicine, National Yang Ming Chiao Tung University and Academia Sinica, Taipei, Taiwan.
Institute of Biochemistry and Molecular Biology, National Yang Ming Chiao Tung University, Taipei, 112, Taiwan.
Cell Death Differ. 2024 Oct;31(10):1349-1361. doi: 10.1038/s41418-024-01325-2. Epub 2024 Jun 15.
Development of the cerebellum requires precise regulation of granule neuron progenitor (GNP) proliferation. Although it is known that primary cilia are necessary to support GNP proliferation, the exact molecular mechanism governing primary cilia dynamics within GNPs remains elusive. Here, we establish the pivotal roles for the centrosomal kinase TTBK2 (Tau tubulin kinase-2) and the E3 ubiquitin ligase HUWE1 in GNP proliferation. We show that TTBK2 is highly expressed in proliferating GNPs under Sonic Hedgehog (SHH) signaling, coinciding with active GNP proliferation and the presence of primary cilia. TTBK2 stabilizes primary cilia by inhibiting their disassembly, thereby promoting GNP proliferation in response to SHH. Mechanistically, we identify HUWE1 as a novel centrosomal E3 ligase that facilitates primary cilia disassembly by targeting TTBK2 degradation. Disassembly of primary cilia serves as a trigger for GNP differentiation, allowing their migration from the external granule layer (EGL) of the cerebellum to the internal granule layer (IGL) for subsequent maturation. Moreover, we have established a link between TTBK2 and SHH-type medulloblastoma (SHH-MB), a tumor characterized by uncontrolled GNP proliferation. TTBK2 depletion inhibits SHH-MB proliferation, indicating that TTBK2 may be a potential therapeutic target for this cancer type. In summary, our findings reveal the mechanism governing cerebellar development and highlight a potential anti-cancer strategy for SHH-MB.
小脑的发育需要精确调控颗粒神经元祖细胞(GNP)的增殖。虽然已经知道初级纤毛对于支持 GNP 增殖是必要的,但调控 GNP 内初级纤毛动力学的确切分子机制仍不清楚。在这里,我们确立了中心体激酶 TTBK2(微管相关蛋白 Tau 激酶-2)和 E3 泛素连接酶 HUWE1 在 GNP 增殖中的关键作用。我们表明,在 Sonic Hedgehog(SHH)信号下,TTBK2 在增殖的 GNP 中高度表达,与活跃的 GNP 增殖和初级纤毛的存在相一致。TTBK2 通过抑制其解体来稳定初级纤毛,从而促进 GNP 增殖以响应 SHH。在机制上,我们确定 HUWE1 是一种新型的中心体 E3 连接酶,通过靶向 TTBK2 降解来促进初级纤毛解体。初级纤毛的解体作为 GNP 分化的触发因素,允许它们从小脑的外颗粒层(EGL)迁移到内颗粒层(IGL),以进行随后的成熟。此外,我们已经建立了 TTBK2 与 SHH 型髓母细胞瘤(SHH-MB)之间的联系,SHH-MB 是一种以 GNP 增殖失控为特征的肿瘤。TTBK2 的缺失抑制了 SHH-MB 的增殖,表明 TTBK2 可能是这种癌症类型的潜在治疗靶点。总之,我们的发现揭示了调控小脑发育的机制,并强调了针对 SHH-MB 的潜在抗癌策略。