Nam Seunghee, Min Kyoengwoo, Hwang Hyejin, Lee Hae-Ock, Lee Jung Hwa, Yoon Jongbok, Lee Hyunsook, Park Sungsu, Lee Junho
Research Center for Cellulomics, Institute of Molecular Biology and Genetics, School of Biological Sciences, Seoul National University, 151-742 Seoul, Korea.
J Biol Chem. 2009 Mar 20;284(12):8195-206. doi: 10.1074/jbc.M808230200. Epub 2009 Jan 20.
Rapsyn is a postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Here we report the mechanism for posttranslational control of rapsyn protein stability. We confirmed that C18H9.7-encoded RPY-1 is a rapsyn homolog in Caenorhabditis elegans by showing that human rapsyn rescued rpy-1 mutant phenotypes in nematodes, as determined by levamisole assays and micropost array behavioral assays. We found that RPY-1 was degraded in the absence of functional UNC-29, a non-alpha subunit of the receptor, in an allele-specific manner, but not in the absence of other receptor subunits. The cytoplasmic loop of UNC-29 was found to be critical for RPY-1 stability. Through RNA interference screening, we found that UBC-1, UBC-12, NEDD-8, and RBX-1 were required for degradation of RPY-1. We identified cullin (CUL)-3 as a component of E3 ligase and KEL-8 as the substrate adaptor of RPY-1. Mammalian rapsyn was ubiquitinated by the CUL3/KLHL8-containing E3 ligase in vitro, and the knockdown of KLHL-8, a mammalian KEL-8 homolog, inhibited rapsyn ubiquitination in vivo, implying evolutionary conservation of the rapsyn stability control machinery. kel-8 suppression and rpy-1 overexpression in C. elegans produced a phenotype similar to that of a loss-of-function mutation of rpy-1, suggesting that control of rapsyn abundance is important for proper function of the receptor. Our results suggest a link between the control of rapsyn abundance and congenital myasthenic syndromes.
Rapsyn是一种突触后蛋白,对于烟碱型乙酰胆碱受体(nAChRs)在神经肌肉接头处的聚集是必需的。在此,我们报告rapyn蛋白稳定性的翻译后调控机制。我们通过左旋咪唑测定法和微柱阵列行为测定法证实,人类rapsyn可挽救线虫中rpy - 1突变体的表型,从而确认C18H9.7编码的RPY - 1是秀丽隐杆线虫中的rapsyn同源物。我们发现,在缺乏功能性UNC - 29(一种受体的非α亚基)时,RPY - 1以等位基因特异性方式被降解,但在缺乏其他受体亚基时则不会。发现UNC - 29的胞质环对RPY - 1的稳定性至关重要。通过RNA干扰筛选,我们发现UBC - 1、UBC - 12、NEDD - 8和RBX - 1是RPY - 1降解所必需的。我们确定cullin(CUL)- 3为E3连接酶的一个组分,而KEL - 8为RPY - 1的底物衔接蛋白。哺乳动物rapsyn在体外被含CUL3/KLHL8的E3连接酶泛素化,而哺乳动物KEL - 8同源物KLHL - 8的敲低在体内抑制了rapsyn的泛素化,这意味着rapsyn稳定性控制机制在进化上具有保守性。秀丽隐杆线虫中kel - 8的抑制和rpy - 1的过表达产生了与rpy - 1功能丧失突变相似的表型,表明控制rapsyn的丰度对于受体的正常功能很重要。我们的结果提示了rapsyn丰度控制与先天性肌无力综合征之间的联系。