Overexpressed human survival motor neurone isoforms, SMN+exon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

被引：6

作者：

Dodds, E

Dunckley, MG

Roberts, RG

Muntoni, F

Shaw, CE ^{[1
]}

机构：

[1] Guys Hosp, GKT Sch Med, Div Med & Mol Genet, London SE1 9RT, England

[2] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Dubowitz Neuromuscular Ctr, London W12 0NN, England

[3] Kings Coll London Hosp, Dept Neurol, London SE5 9RS, England

来源：

FEBS LETTERS | 2001年 / 495卷 / 1-2期

关键词：

spinal muscular atrophy; survival motor neuron; cDNA; gem;

D O I：

10.1016/S0014-5793(01)02330-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Homozygous mutations of the telomeric survival motor neurone gene (SMN1) cause spinal muscular atrophy (SMA). The centromeric copy gene (SMN2) generally skips exon 7 during splicing and fails to compensate for SMN1 deficits, so SMA cells have reduced SMN protein and few nuclear gems, To investigate the role of eh-on 7 in SMN localisation, cDNAs for full-length SMN and SMN Delta exon 7 were overexpressed in COS cells, neurones and SMA fibroblasts. Both constructs formed discrete intranuclear bodies colocalising with p80-coilin, but produced more cytoplasmic aggregates in cells overexpressing exon 7, Hence, the exon 7 domain enhances SMN aggregation but is not critical for gem formation. (C) 2001 Federation of European Biochemical Societies, Published by Elsevier Science B,V, All rights reserved.

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页码：31 / 38

页数：8

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