Institute of Experimental Biomedicine, University Hospital, and.
Rudolf Virchow Center, University of Würzburg, Würzburg, Germany.
Blood Adv. 2020 May 26;4(10):2124-2134. doi: 10.1182/bloodadvances.2019001303.
Rearrangements of the microtubule (MT) and actin cytoskeleton are pivotal for platelet biogenesis. Hence, defects in actin- or MT-regulatory proteins are associated with platelet disorders in humans and mice. Previous studies in mice revealed that loss of the actin-depolymerizing factor homology (ADF-H) protein Cofilin1 (Cof1) in megakaryocytes (MKs) results in a moderate macrothrombocytopenia but normal MK numbers, whereas deficiency in another ADF-H protein, Twinfilin1 (Twf1), does not affect platelet production or function. However, recent studies in yeast have indicated a critical synergism between Twf1 and Cof1 in the regulation of actin dynamics. We therefore investigated platelet biogenesis and function in mice lacking both Twf1 and Cof1 in the MK lineage. In contrast to single deficiency in either protein, Twf1/Cof1 double deficiency (DKO) resulted in a severe macrothrombocytopenia and dramatically increased MK numbers in bone marrow and spleen. DKO MKs exhibited defective proplatelet formation in vitro and in vivo as well as impaired spreading and altered assembly of podosome-like structures on collagen and fibrinogen in vitro. These defects were associated with aberrant F-actin accumulation and, remarkably, the formation of hyperstable MT, which appears to be caused by dysregulation of the actin- and MT-binding proteins mDia1 and adenomatous polyposis coli. Surprisingly, the mild functional defects described for Cof1-deficient platelets were only slightly aggravated in DKO platelets suggesting that both proteins are largely dispensable for platelet function in the peripheral blood. In summary, these findings reveal critical redundant functions of Cof1 and Twf1 in ensuring balanced actin/microtubule crosstalk during thrombopoiesis in mice and possibly humans.
微管 (MT) 和肌动蛋白细胞骨架的重排对于血小板的发生至关重要。因此,人类和小鼠中肌动蛋白或 MT 调节蛋白的缺陷与血小板疾病有关。先前在小鼠中的研究表明,巨核细胞 (MK) 中肌动蛋白解聚因子同源 (ADF-H) 蛋白丝切蛋白 1 (Cof1) 的缺失导致中度巨血小板减少症但 MK 数量正常,而另一种 ADF-H 蛋白 Twinfilin1 (Twf1) 的缺乏则不影响血小板的产生或功能。然而,最近在酵母中的研究表明,Twf1 和 Cof1 在调节肌动蛋白动力学方面存在关键协同作用。因此,我们研究了 MK 谱系中缺乏 Twf1 和 Cof1 的小鼠的血小板发生和功能。与单一蛋白缺乏相比,Twf1/Cof1 双重缺乏 (DKO) 导致严重的巨血小板减少症和骨髓和脾脏中 MK 数量显著增加。DKO MK 在体外和体内表现出缺陷的前血小板形成以及在体外胶原和纤维蛋白原上扩散和改变足突样结构的组装。这些缺陷与异常 F-肌动蛋白积累有关,值得注意的是,形成超稳定的微管,这似乎是由肌动蛋白和微管结合蛋白 mDia1 和结肠腺瘤性息肉病基因的失调引起的。令人惊讶的是,Cof1 缺陷型血小板描述的轻度功能缺陷在 DKO 血小板中仅略有加重,表明这两种蛋白在周围血液中的血小板功能中在很大程度上是可有可无的。总之,这些发现揭示了 Cof1 和 Twf1 在确保小鼠和可能人类的血栓发生过程中平衡的肌动蛋白/微管相互作用中的关键冗余功能。