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rdf:type |
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lifeskim:mentions |
umls-concept:C0027882,
umls-concept:C0038952,
umls-concept:C0086418,
umls-concept:C0376315,
umls-concept:C0521449,
umls-concept:C0597298,
umls-concept:C0751972,
umls-concept:C1416797,
umls-concept:C1420295,
umls-concept:C1513492,
umls-concept:C1704711,
umls-concept:C1705994
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pubmed:issue |
1-2
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pubmed:dateCreated |
2001-4-27
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pubmed:abstractText |
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 SMNDeltaexon 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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Cyclic AMP Response...,
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Complementary,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Protein Isoforms,
http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Recombinant Fusion Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SMN Complex Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SMN1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SMN2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Smn1 protein, rat,
http://linkedlifedata.com/resource/pubmed/chemical/Survival of Motor Neuron 1 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/Survival of Motor Neuron 2 Protein,
http://linkedlifedata.com/resource/pubmed/chemical/p80-coilin
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0014-5793
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
20
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pubmed:volume |
495
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
31-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11322942-Alternative Splicing,
pubmed-meshheading:11322942-Animals,
pubmed-meshheading:11322942-COS Cells,
pubmed-meshheading:11322942-Cell Nucleus,
pubmed-meshheading:11322942-Cells, Cultured,
pubmed-meshheading:11322942-Cyclic AMP Response Element-Binding Protein,
pubmed-meshheading:11322942-Cytoplasm,
pubmed-meshheading:11322942-DNA, Complementary,
pubmed-meshheading:11322942-Exons,
pubmed-meshheading:11322942-Fibroblasts,
pubmed-meshheading:11322942-Genes, Reporter,
pubmed-meshheading:11322942-Humans,
pubmed-meshheading:11322942-Muscular Atrophy, Spinal,
pubmed-meshheading:11322942-Nerve Tissue Proteins,
pubmed-meshheading:11322942-Neurons,
pubmed-meshheading:11322942-Nuclear Proteins,
pubmed-meshheading:11322942-Protein Isoforms,
pubmed-meshheading:11322942-Protein Structure, Tertiary,
pubmed-meshheading:11322942-RNA-Binding Proteins,
pubmed-meshheading:11322942-Rats,
pubmed-meshheading:11322942-Recombinant Fusion Proteins,
pubmed-meshheading:11322942-SMN Complex Proteins,
pubmed-meshheading:11322942-Survival of Motor Neuron 1 Protein,
pubmed-meshheading:11322942-Survival of Motor Neuron 2 Protein,
pubmed-meshheading:11322942-Transfection
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pubmed:year |
2001
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pubmed:articleTitle |
Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution.
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pubmed:affiliation |
Division of Medical and Molecular Genetics, GKT School of Medicine, Guy's Hospital, London SE1 9RT, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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