pEGFPN1-^(wt)HSP22和pEGFPN1-^(mt)HSP22载体的构建及其在人神经母细胞瘤细胞中的表达
被引量:2
摘要
腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)是人类最常见的具有高度临床和遗传异质性的周围神经单基因遗传病。唐北沙等.成功定位了一个CMT2型大家系并将之命名为CMT2L,研究发现了小分子热休克蛋白22基因(HSP22)突变(423G→T,K141N)为CMT2L的致病突变。为研究HSP22的细胞内定位和生物学功能,我们运用体外基因重组技术构建pEGFPN1-^wtHSP22、pEGFPN1-^mtHSP22载体,转染SHSY5Y细胞后在激光共聚焦显微镜下观察蛋白的细胞内定位和聚集物形成情况。
出处
《中华医学杂志》
CAS
CSCD
北大核心
2006年第25期1780-1782,共3页
National Medical Journal of China
基金
国家自然科学基金资助项目(30300200)
国家"863"高技术研究发展计划基金资助项目(2004AA227040)
参考文献10
-
1Dyck PJ,Lambert EH.Lower motor and primary sensory neuron diseases with peroneal muscular atrophy.Ⅱ.Neurologic,genetic,and electrophysiologic findings in various neuronal degenerations.Arch Neurol,1968,18:619-625.
-
2Tang BS,Luo W,Xia K,et al.A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.Hum Genet,2004,114:527-533.
-
3Tang BS,Zhao GH,Luo W,et al.Small heat-shock protein 22mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L,Hum Genet,2005,116:222-224.
-
4Clark JI,Muchowski PJ.Small heat-shock proteins and their potential role in human disease.Curr Opin Struct Biol,2000,10:52-59.
-
5Kappe G,Franck E,Verschuure P,et al.The human genome encodes 10 alpha-crystallin-related small heat shock proteins:HspB1-10.Cell Stress Chaperones,2003,8:53-61.
-
6Andley UP,Patel HC,Xi JH.The R116C mutation in alpha Acrystallin diminishes its protective ability against stress-induced lens epithelial cell apoptosis.J Biol Chem,2002,277:10178-10186.
-
7Perng MD,Muchowski PJ,van Den IJssel P,et al.The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure,chaperone activity,and interaction with intermediate filaments in vitro.J Biol Chem,1999,274:33235-33243.
-
8Irobi J,Impe KV,Seeman P,et al.Hot-spot residue in small heatshock protein 22 causes distal motor neuropathy.Nat Genet,2004,36:597-601.
-
9Evgrafov OV,Mersiyanova I,Irobi J,et al.Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.Nat Genet,2004,36:602-606.
-
10Paul J,Muchowski,Jennifer L,et al.Modulation of neurodegeneration by molecular chaperones.Neuroscience,2005,6:11-22.
同被引文献10
-
1刘小民,唐北沙,赵国华,夏昆,张付峰,潘乾,蔡芳,胡正茂,张成,陈彪,沈璐,张如旭,江泓.中国人腓骨肌萎缩症小热休克蛋白27基因突变分析[J].中华医学遗传学杂志,2005,22(5):510-513. 被引量:16
-
2张如旭,唐北沙,资晓宏,夏昆,潘乾,张付峰,李书剑,赵国华,郭科.轴突型腓骨肌萎缩症2L型致病基因HSPB8突变导致细胞内聚集物形成的机理研究[J].中华医学遗传学杂志,2006,23(6):601-604. 被引量:6
-
3Harding AE,Thomas PK.The clinical features of hereditary motor and sensory neuropathy types Ⅰ and Ⅱ.Brain,1980,103:259-280.
-
4Tang BS,Luo W,Xia K,et al.A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L)maps to chromosome 12q24.Hum Genet,2004,114:527-533.
-
5Tang BS,Zhao GH,Luo W.Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.Hum Genet,2005,116:222-224.
-
6Miao Y,Chen J,Zhang Q,et al.Deletion of tau attenuates heat shock-induced injury in cultured cortical neurons. J Neurosei Res,2010,88:102-110.
-
7Sun Y,MacRae TH.The small heat shock proteins and their role in human disease.FEBS J,2005,272:2613-2627.
-
8Arrigo AP,Simon S,Gibert B,et al.Hsp27 (HspB1) and alphaB-crystallin (HspB5) as therapeutic targets. FEBS Lett,2007,581:3665-3674.
-
9Irobi J,Van Impe K,Seeman P,et al.Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.Nat Genet,2004,36:597-601.
-
10Ackerley S,James PA,Kalli A,et al.A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.Hum Mol G enet,2006,15:347-354.
引证文献2
-
1张如旭,杨茜,资晓宏,李小波,刘婷,刘三姝,李琳,占雅静,厉兰,夏昆,潘乾,唐北沙.HSPB1的R127W突变蛋白细胞内表达与神经丝轻链的共定位研究[J].中华医学遗传学杂志,2011,28(5):496-500.
-
2张付峰,卢晓琴,周亚芳,沈璐,江泓,严新翔,唐北沙.K141N突变型小分子热休克蛋白22轴突转运障碍及其在CMT2L发病机制中的作用[J].中华医学杂志,2012,92(7):496-498. 被引量:1
-
1张付峰,唐北沙,赵国华,陈彪,张成,罗巍,刘小民,夏昆,蔡芳,胡正茂,严新翔,张如旭,郭鹏.小热休克蛋白22基因在腓骨肌萎缩症中的突变分析(英文)[J].中华医学遗传学杂志,2005,22(4):361-363. 被引量:5
-
2张付峰,卢晓琴,周亚芳,沈璐,江泓,严新翔,唐北沙.K141N突变型小分子热休克蛋白22轴突转运障碍及其在CMT2L发病机制中的作用[J].中华医学杂志,2012,92(7):496-498. 被引量:1
-
3孙元明,李向林,李雨民,樊飞跃.腓骨肌萎缩症一家系28例[J].中华医学遗传学杂志,2005,22(3):271-271.
-
4解龙昌,张珊珊,黄莉,龙友明,高聪.聚乙烯亚胺转染人神经母细胞瘤细胞效果的影响因素[J].广东医学,2013,34(12):1801-1803.
-
5方芳,陈晓春,朱元贵.MPP^+对SHSY5Y细胞凋亡的诱导作用[J].福建医科大学学报,2001,35(3):211-215. 被引量:6
-
6卢娜,白瑞樱,黄河,李成长,李超堃.低氧预适应对氧糖剥夺损伤SH-SY5Y细胞的保护作用[J].中国应用生理学杂志,2016,32(4):319-323. 被引量:2
-
7徐倩,张付峰,唐北沙.线粒体功能障碍在腓骨肌萎缩症发病机制中的作用研究进展[J].中华神经科杂志,2007,40(11):777-779. 被引量:3
-
8肖波,苏曼.中枢神经系统缝隙连接研究进展[J].国外医学(生理病理科学与临床分册),2002,22(3):205-208. 被引量:4
-
9陈旭,胡园,李青山,郭代红,王东晓,刘屏.表没食子儿茶素没食子酸酯对H_2O_2诱导的SH-SY5Y神经细胞损伤的保护作用[J].中国药理学通报,2011,27(3):320-324. 被引量:12
-
10徐迎胜,张俊,邓敏,唐璐,郑菊阳,张朔,樊东升.中间型腓骨肌萎缩症的临床、神经电生理及病理研究[J].中华医学杂志,2008,88(31):2223-2225. 被引量:1