Overexpressed human survival motor neurone isoforms, SMNΔexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

FEBS Letters

Shaw, Christopher E.¹  Dodds, Emma¹  Muntoni, Francesco²  Roberts, Roland G.¹  Dunckley, Matthew G.² 

[1] Division of Medical and Molecular Genetics, GKT School of Medicine, Guy's Hospital, London SE1 9RT, UK;Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London W12 0NN, UK

关键词: Spinal muscular atrophy;    Survival motor neuron;    cDNA;    Gem;    SMA;    spinal muscular atrophy;    SMN;    survival motor neurone;    GFP;    green fluorescent protein;   

DOI  :  10.1016/S0014-5793(01)02330-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 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 exon 7 in SMN localisation, cDNAs for full-length SMN and SMNΔexon 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.

【 授权许可】

Unknown