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痉挛素和发动蛋白,这两种在常染色体显性遗传性痉挛性截瘫中发生突变的蛋白质,是结合伴侣。

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

作者信息

Sanderson Christopher M, Connell James W, Edwards Thomas L, Bright Nicholas A, Duley Simon, Thompson Amanda, Luzio J Paul, Reid Evan

机构信息

The Psychological Laboratory, School of Biomedical Sciences, University of Liverpool, Crown Street, Liverpool L69 3BX, UK.

出版信息

Hum Mol Genet. 2006 Jan 15;15(2):307-18. doi: 10.1093/hmg/ddi447. Epub 2005 Dec 8.

Abstract

The pure hereditary spastic paraplegias (HSPs) are a group of conditions in which there is a progressive length-dependent degeneration of the distal ends of the corticospinal tract axons, resulting in spastic paralysis of the legs. Pure HSPs are most frequently inherited in an autosomal-dominant pattern and are commonly caused by mutations either in the SPG4 gene spastin or in the SPG3A gene atlastin. To identify binding partners for spastin, we carried out a yeast two-hybrid screen on a brain cDNA library, using spastin as bait. Remarkably, nearly all of the positive interacting prey clones coded for atlastin. We have verified the physiological relevance of this interaction using co-immunoprecipitation, glutathione S-transferase pull-down and intracellular co-localization experiments. We show that the spastin domain required for binding to atlastin lies within the N-terminal 80 residues of the protein, a region that is only present in the predominantly cytoplasmic, full-length spastin isoform. These data suggest that spastin and atlastin function in the same biochemical pathway and that it is the cytoplasmic function of spastin which is important for the pathogenesis of HSP. They also provide further evidence for a physiological and pathological role of spastin in membrane dynamics.

摘要

纯遗传性痉挛性截瘫(HSPs)是一组疾病,其特征为皮质脊髓束轴突远端出现进行性长度依赖性变性,导致腿部痉挛性麻痹。纯HSPs最常以常染色体显性模式遗传,通常由SPG4基因(痉挛蛋白)或SPG3A基因(atlastin)中的突变引起。为了鉴定痉挛蛋白的结合伴侣,我们以痉挛蛋白为诱饵,在脑cDNA文库上进行了酵母双杂交筛选。值得注意的是,几乎所有阳性相互作用的猎物克隆都编码atlastin。我们使用免疫共沉淀、谷胱甘肽S-转移酶下拉和细胞内共定位实验验证了这种相互作用的生理相关性。我们表明,与atlastin结合所需的痉挛蛋白结构域位于该蛋白质的N端80个残基内,该区域仅存在于主要位于细胞质的全长痉挛蛋白异构体中。这些数据表明,痉挛蛋白和atlastin在同一生化途径中发挥作用,并且痉挛蛋白的细胞质功能对HSP的发病机制很重要。它们还为痉挛蛋白在膜动力学中的生理和病理作用提供了进一步的证据。

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