HSPB8蛋白与NEFL蛋白相互作用研究及HSPB8蛋白对细胞相对活力的影响
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摘要
腓骨肌萎缩症(Charcot-Marie-Tooth disease，CMT)又称为遗传性运动感觉性神经病(Hereditary Motor and Sensory Neuropathy，HMSN)，是一组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，以肢体远端肌肉进行性对称性的萎缩、腱反射减弱和远端感觉减退等为主要临床特征，发病率约为40／10万。根据电生理和病理学特点，CMT可以分为脱髓鞘型(CMT1)和轴索型(CMT2)，根据遗传方式的不同，CMT可以分为常染色体显性遗传(AD)，常染色体隐性遗传(AR)和X连锁遗传(XD／XR)。迄今为止，腓骨肌萎缩症的分子遗传学分型已达到29型，其中21型已克隆。最新研究表明，CMT2型的几个亚型与小分子量热休克蛋白(Small Heat Shock Proteins，sHSPs)基因以及神经丝轻链(Neurofilamem Light Chain，NEFL)基因突变密切相关。2000年，Mersiyanova等在1个俄罗斯CMT2E大家系中发现了NEFL基因的Q333P致病突变，从而证实NEFL基因为CMT2E的致病基因；2004年，Evgrafov OV等在1个俄罗斯和1个比利时CMT2F大家系中分别发现了小分子量热休克蛋白B1(heat shock protein B1，HSPBl)基因的R127W和S135F致病突变，从而证实HSPB1基因为CMT2F型的致病基因；2004年，我们将1个来自中国湖南和湖北常染色体显性遗传的CMT2大家系定位在12q24．2-12q24．3，命名为CMT2L型，随后通过候选基因排除克隆的方法，在该定位区间发现了小分子量热休克蛋白B8(heat shock protein B8，HSPB8)的423G→T点突变，导致氨基酸K141N替换，从而证实HSPB8为CMT2L型的致病基因。
HSPB1和HSPB8属于小分子量热休克蛋白家族成员，研究发现HSPB8具有分子伴侣功能，可以稳定细胞骨架，协助其正确组装。NEFL是真核生物体内的一种主要的中间丝结构，是细胞骨架的重要组成部分。近年来，研究表明~(wt)HSPB8及~(K141N)NHSPB8均可与HSPB1发生相互作用；而HSPB1和~(wt)NEFL之间也可能存在相互作用。但~(wt)HSPB8及~(K141n)HSPB8能否直接与~(Wt)NEFL发生相互作用，目前尚不清楚。在本研究中，我们将前期工作中成功构建的pEGFP-~(wt)HSPB8和pEGFP-~(K141N)HSPB8真核表达载体分别与PCI-~(wt)NEFL真核表达载体共转染Hela细胞，通过间接免疫荧光共定位技术初步研究了~(wt)HSPB8、~(K141N)NHSPB8与~(wt)NEFL之间的相互作用，结果表明~(wt)HSPB8、~(K141N)HSPB8均与~(wt)NEFL存在共定位，即~(wt)HSPB8、~(K141N)HSPB8可能与~(wt)NEFL存在相互作用；随后应用免疫共沉淀技术，我们进一步研究了~(wt)HSPB8、~(K141N)HSPB8与~(wt)NEFL之间的相互作用，结果证实~(wt)HSPB8、~(K141N)NHSPB8与~(wt)NEFL之间均存在相互作用。
为了解HSPB8在细胞受到致死性热休克刺激时对细胞相对活力的保护作用及K141N突变对细胞相对活力影响的改变，我们利用脂质体转染技术，将pEGFP-~(wt)HSPB8和pEGFP-~(K141N)HSPB8真核表达载体分别转染SHSY-5Y细胞，通过MTT比色法探讨了~(wt)HSPB8、~(K141N)NHSPB8过表达对细胞相对活力的影响，结果表明~(K141N)HSPB8过表达对细胞相对活力的保护作用较~(wt)HSPB8降低。我们的研究为进一步阐明HSPB8的功能奠定了基础。
Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathy (HMSN), is the most common hereditary peripheral neuropathy with highly clinical and genetic heterogeneity.CMT is characterized by progressive and symmetric distal muscle atrophy, hyporeflexia and hypoesthesia in distal limbs. The incidence of CMT is about 40/10,0000. According to the electrophysiological and histopathological criteria, CMT can be divided into two forms: the demyelinating form (CMT1) and the axonal form (CMT2). According to different modes of inheritance, CMT can be divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked dominant or recessive (XD/XR). So far 29 gene loci have been identified and 21 distinct genes have been cloned. Recent researches showed that some subtypes of CMT2 were caused by the mutations in genes encoding small heat shock proteins (sHSPs) and neurofilament light chain (NEFL). In 2000, Mersiyanova et al found the Q333P mutation in NEFL gene in a large Russian CMT2E family and confirmed NEFL as the disease causative gene of CMT2E. In 2004, Evgrafov OVet al found S135F and R127W mutation in gene encoding Heat shock protein B1 (HSPB 1) in a large Russian and a large Belgian CMT2F family respectively. In consequence, they confirmed HSPB1 as the disease causative gene of CMT2F. In 2004, we found a large Chinese CMT2 family in Hunan and Hubei provinces which was proved to be a novel genotype designated as CMT2L. After mapping the locus to chromosome I2q24.2-12q24.3, we identified a novel 423G→T mutation of HSPB8 and confirmed amino-acid change K141N as the causative gene defect in CMT2L.
HSPB8 and HSPB 1 belong to sHSPs family. Recent studies revealed that HSPB8 is a molecular chaperone which can stabilize cytoskeletons and assist their correct assembly. NEFL, as an important structure that can maintain cytoskeleton, is a main intermediate filament. Recent studies showed that both wild type HSPB8 and K141N mutant HSPB8 can interact with wild type HSPB 1. Furthermore, S 135F mutant HSPB 1 may have interaction with wild type NEFL. However, there were no reports concerning with the interaction between wild type HSPB8 and wild type NEFL, nor the interaction between K141N mutant HSPB8 and wild type NEFL. In former studies, we have successfully constructed the wild type HSPB8 and K141N mutant type HSPB8 eukaryotic expression vectors. In this study, we co-transfected wild type HSPB8/K141N mutant HSPB8 and wild type NEFL eukaryotic expression vector into Hela cell line. We analyzed the interactions between HSPB8 and NEFL by using indirect immunofluorescence technique. Our results indicated that both wild type and K141N mutant HSPB8 co-locate with NEFL, which suggests the interactions between HSPB8 and NEFL. We further confirmed the interactions between HSPB8 and NEFL by co-immunoprecipitation technique. Our results suggested that both wild type HSPB8 and K141N mutant type HSPB8 interact with wild type NEFL.
To investigate the influence of HSPB8 mutation on cell relative viability in heat shock stress, we transfected wild type HSPBS/K141N mutant HSPB8 eukaryotic expression vector into SHSY-SY cell line and investigated the cell relative viability by using MTT. We confirmed that SHSY-SY cell that overexpressed K141N mutant HSPB8 is less viable than the wild type. In a word, this study has set up a foundation for our following researches on HSPB8 functions.
HSPB1和HSPB8属于小分子量热休克蛋白家族成员，研究发现HSPB8具有分子伴侣功能，可以稳定细胞骨架，协助其正确组装。NEFL是真核生物体内的一种主要的中间丝结构，是细胞骨架的重要组成部分。近年来，研究表明~(wt)HSPB8及~(K141N)NHSPB8均可与HSPB1发生相互作用；而HSPB1和~(wt)NEFL之间也可能存在相互作用。但~(wt)HSPB8及~(K141n)HSPB8能否直接与~(Wt)NEFL发生相互作用，目前尚不清楚。在本研究中，我们将前期工作中成功构建的pEGFP-~(wt)HSPB8和pEGFP-~(K141N)HSPB8真核表达载体分别与PCI-~(wt)NEFL真核表达载体共转染Hela细胞，通过间接免疫荧光共定位技术初步研究了~(wt)HSPB8、~(K141N)NHSPB8与~(wt)NEFL之间的相互作用，结果表明~(wt)HSPB8、~(K141N)HSPB8均与~(wt)NEFL存在共定位，即~(wt)HSPB8、~(K141N)HSPB8可能与~(wt)NEFL存在相互作用；随后应用免疫共沉淀技术，我们进一步研究了~(wt)HSPB8、~(K141N)HSPB8与~(wt)NEFL之间的相互作用，结果证实~(wt)HSPB8、~(K141N)NHSPB8与~(wt)NEFL之间均存在相互作用。
为了解HSPB8在细胞受到致死性热休克刺激时对细胞相对活力的保护作用及K141N突变对细胞相对活力影响的改变，我们利用脂质体转染技术，将pEGFP-~(wt)HSPB8和pEGFP-~(K141N)HSPB8真核表达载体分别转染SHSY-5Y细胞，通过MTT比色法探讨了~(wt)HSPB8、~(K141N)NHSPB8过表达对细胞相对活力的影响，结果表明~(K141N)HSPB8过表达对细胞相对活力的保护作用较~(wt)HSPB8降低。我们的研究为进一步阐明HSPB8的功能奠定了基础。
Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathy (HMSN), is the most common hereditary peripheral neuropathy with highly clinical and genetic heterogeneity.CMT is characterized by progressive and symmetric distal muscle atrophy, hyporeflexia and hypoesthesia in distal limbs. The incidence of CMT is about 40/10,0000. According to the electrophysiological and histopathological criteria, CMT can be divided into two forms: the demyelinating form (CMT1) and the axonal form (CMT2). According to different modes of inheritance, CMT can be divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked dominant or recessive (XD/XR). So far 29 gene loci have been identified and 21 distinct genes have been cloned. Recent researches showed that some subtypes of CMT2 were caused by the mutations in genes encoding small heat shock proteins (sHSPs) and neurofilament light chain (NEFL). In 2000, Mersiyanova et al found the Q333P mutation in NEFL gene in a large Russian CMT2E family and confirmed NEFL as the disease causative gene of CMT2E. In 2004, Evgrafov OVet al found S135F and R127W mutation in gene encoding Heat shock protein B1 (HSPB 1) in a large Russian and a large Belgian CMT2F family respectively. In consequence, they confirmed HSPB1 as the disease causative gene of CMT2F. In 2004, we found a large Chinese CMT2 family in Hunan and Hubei provinces which was proved to be a novel genotype designated as CMT2L. After mapping the locus to chromosome I2q24.2-12q24.3, we identified a novel 423G→T mutation of HSPB8 and confirmed amino-acid change K141N as the causative gene defect in CMT2L.
HSPB8 and HSPB 1 belong to sHSPs family. Recent studies revealed that HSPB8 is a molecular chaperone which can stabilize cytoskeletons and assist their correct assembly. NEFL, as an important structure that can maintain cytoskeleton, is a main intermediate filament. Recent studies showed that both wild type HSPB8 and K141N mutant HSPB8 can interact with wild type HSPB 1. Furthermore, S 135F mutant HSPB 1 may have interaction with wild type NEFL. However, there were no reports concerning with the interaction between wild type HSPB8 and wild type NEFL, nor the interaction between K141N mutant HSPB8 and wild type NEFL. In former studies, we have successfully constructed the wild type HSPB8 and K141N mutant type HSPB8 eukaryotic expression vectors. In this study, we co-transfected wild type HSPB8/K141N mutant HSPB8 and wild type NEFL eukaryotic expression vector into Hela cell line. We analyzed the interactions between HSPB8 and NEFL by using indirect immunofluorescence technique. Our results indicated that both wild type and K141N mutant HSPB8 co-locate with NEFL, which suggests the interactions between HSPB8 and NEFL. We further confirmed the interactions between HSPB8 and NEFL by co-immunoprecipitation technique. Our results suggested that both wild type HSPB8 and K141N mutant type HSPB8 interact with wild type NEFL.
To investigate the influence of HSPB8 mutation on cell relative viability in heat shock stress, we transfected wild type HSPBS/K141N mutant HSPB8 eukaryotic expression vector into SHSY-SY cell line and investigated the cell relative viability by using MTT. We confirmed that SHSY-SY cell that overexpressed K141N mutant HSPB8 is less viable than the wild type. In a word, this study has set up a foundation for our following researches on HSPB8 functions.
引文
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