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

E Dodds; M G Dunckley; R G Roberts; F Muntoni; C E Shaw

doi:10.1016/S0014-5793(01)02330-4

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

E Dodds, M G Dunckley, R G Roberts, F Muntoni, C E Shaw

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	31 - 38
Number of pages	8
Journal	FEBS Letters
Volume	495
Issue number	1-2
DOIs	https://doi.org/10.1016/S0014-5793(01)02330-4
Publication status	Published - 20 Apr 2001

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

abstract = "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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T1 - Overexpressed human survival motor neurone isoforms, SMN+exon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

AU - Dodds, E

AU - Dunckley, M G

AU - Roberts, R G

AU - Muntoni, F

AU - Shaw, C E

PY - 2001/4/20

Y1 - 2001/4/20

N2 - 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.

AB - 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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U2 - 10.1016/S0014-5793(01)02330-4

DO - 10.1016/S0014-5793(01)02330-4

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JF - FEBS Letters

IS - 1-2

ER -

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

Abstract

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