Department of Chemistry, Biochemistry and Molecular Biology, School of Health Sciences, Universidad CEU Cardenal Herrera, Moncada, Valencia, Spain.
PLoS One. 2011 Apr 28;6(4):e19236. doi: 10.1371/journal.pone.0019236.
Rnd proteins are a subfamily of Rho GTPases involved in the control of actin cytoskeleton dynamics and other cell functions such as motility, proliferation and survival. Unlike other members of the Rho family, Rnd proteins lack GTPase activity and therefore remain constitutively active. We have recently described that RhoE/Rnd3 is expressed in the Central Nervous System and that it has a role in promoting neurite formation. Despite their possible relevance during development, the role of Rnd proteins in vivo is not known. To get insight into the in vivo function of RhoE we have generated mice lacking RhoE expression by an exon trapping cassette. RhoE null mice (RhoE gt/gt) are smaller at birth, display growth retardation and early postnatal death since only half of RhoE gt/gt mice survive beyond postnatal day (PD) 15 and 100% are dead by PD 29. RhoE gt/gt mice show an abnormal body position with profound motor impairment and impaired performance in most neurobehavioral tests. Null mutant mice are hypoactive, show an immature locomotor pattern and display a significant delay in the appearance of the hindlimb mature responses. Moreover, they perform worse than the control littermates in the wire suspension, vertical climbing and clinging, righting reflex and negative geotaxis tests. Also, RhoE ablation results in a delay of neuromuscular maturation and in a reduction in the number of spinal motor neurons. Finally, RhoE gt/gt mice lack the common peroneal nerve and, consequently, show a complete atrophy of the target muscles. This is the first model to study the in vivo functions of a member of the Rnd subfamily of proteins, revealing the important role of Rnd3/RhoE in the normal development and suggesting the possible involvement of this protein in neurological disorders.
Rnd 蛋白是 Rho GTPases 家族的一个亚家族,参与肌动蛋白细胞骨架动力学和其他细胞功能的调控,如运动性、增殖和存活。与 Rho 家族的其他成员不同,Rnd 蛋白缺乏 GTPase 活性,因此保持组成性激活。我们最近描述了 RhoE/Rnd3 在中枢神经系统中表达,并在促进轴突形成中发挥作用。尽管它们在发育过程中可能具有相关性,但 Rnd 蛋白在体内的作用尚不清楚。为了深入了解 RhoE 的体内功能,我们通过外显子捕获盒生成了缺乏 RhoE 表达的小鼠。RhoE 缺失小鼠(RhoE gt/gt)在出生时较小,表现出生长迟缓,并且在出生后第 15 天之前只有一半的 RhoE gt/gt 小鼠存活,并且在第 29 天 100%死亡。RhoE gt/gt 小鼠表现出异常的身体姿势,运动功能严重受损,并且在大多数神经行为测试中表现出受损的表现。缺失突变小鼠活动减少,表现出不成熟的运动模式,并在出现后肢成熟反应时出现明显延迟。此外,它们在悬线、垂直攀爬和握持、翻正反射和负趋地性测试中的表现不如对照同窝仔鼠。此外,RhoE 缺失导致神经肌肉成熟延迟,并减少脊髓运动神经元的数量。最后,RhoE gt/gt 小鼠缺乏腓总神经,因此目标肌肉完全萎缩。这是第一个研究 Rnd 亚家族蛋白成员体内功能的模型,揭示了 Rnd3/RhoE 在正常发育中的重要作用,并提示该蛋白可能参与神经紊乱。