PDF(Pubmed)
Abstract：
ARL13B is a small GTPase enriched in cilia. Deletion of Arl13b in mouse kidney results in renal cysts and an associated absence of primary cilia. Similarly, ablation of cilia leads to kidney cysts. To investigate whether ARL13B functions from within cilia to direct kidney development, we examined kidneys of mice expressing an engineered cilia-excluded ARL13B variant, ARL13BV358A. These mice retained renal cilia and developed cystic kidneys. Because ARL13B functions as a guanine nucleotide exchange factor (GEF) for ARL3, we examined kidneys of mice expressing an ARL13B variant that lacks ARL3 GEF activity, ARL13BR79Q. We found normal kidney development with no evidence of cysts in these mice. Taken together, our results show that ARL13B functions within cilia to inhibit renal cystogenesis during mouse development, and that this function does not depend on its role as a GEF for ARL3.
摘要：
ARL13B是一种富含纤毛的小GTP酶。小鼠肾脏中Arl13b的缺失导致肾囊肿和相关的初级纤毛缺失。同样，纤毛消融导致肾囊肿。为了研究ARL13B是否从纤毛内部起作用以指导肾脏发育，我们检查了表达工程化纤毛排除的ARL13B变体的小鼠的肾脏，ARL13BV358A.这些小鼠保留了肾纤毛并发展了囊性肾脏。因为ARL13B作为ARL3的鸟嘌呤核苷酸交换因子（GEF），我们检查了表达缺乏ARLGEF活性的ARL13B变体的小鼠的肾脏。ARL13BR79Q。我们发现这些小鼠的肾脏发育正常，没有囊肿的迹象。一起来看,我们的结果表明，ARL13B在纤毛内的功能，以抑制小鼠发育期间的肾囊形成，并且该功能不依赖于其作为ARL3的GEF的作用。
