Abstract：
The primary cilium is a hair-like projection that controls cell development and tissue homeostasis. Although accumulated studies identify the molecular link between cilia and cilia-related diseases, the underlying etiology of ciliopathies has not been fully understood. In this paper, we determine the function of Rab34, a small GTPase, as a key regulator for controlling ciliogenesis and type I collagen trafficking in craniofacial development. Mechanistically, Rab34 is required to form cilia that control osteogenic proliferation, survival, and differentiation via cilia-mediated Hedgehog signaling. In addition, Rab34 is indispensable for regulating type I collagen trafficking from the ER to the Golgi. These results demonstrate that Rab34 has both ciliary and non-ciliary functions to regulate osteogenesis. Our study highlights the critical function of Rab34, which may contribute to understanding the novel etiology of ciliopathies that are associated with the dysfunction of RAB34 in humans.
摘要：
初级纤毛是控制细胞发育和组织稳态的毛发状突起。尽管积累的研究确定了纤毛和纤毛相关疾病之间的分子联系，纤毛病的潜在病因尚未完全了解。在本文中,我们确定了Rab34的功能，一种小的GTP酶，作为控制颅面发育中纤毛发生和I型胶原蛋白运输的关键调节剂。机械上,Rab34需要形成控制成骨增殖的纤毛，生存,和通过纤毛介导的Hedgehog信号传导分化。此外,Rab34对于调节I型胶原蛋白从ER到高尔基体的运输是必不可少的。这些结果表明Rab34具有纤毛和非纤毛功能以调节成骨。我们的研究强调了Rab34的关键功能，这可能有助于理解与人类RAB34功能障碍相关的纤毛病的新病因。
