FEBS Letters | |
Overexpressed human survival motor neurone isoforms, SMNΔexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution | |
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. | |
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【 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
【 预 览 】
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RO201912020310491ZK.pdf | 7071KB | ![]() |