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Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies
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Morse, Robert, Todd, Adrian G., Shaw, Debra J., McConville, Alison L., Robinson, Iain M. and Young, Philip J. (2011) Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. NeuroMolecular Medicine, 13 (1). pp. 77-87. doi:10.1007/s12017-010-8139-1 ISSN 1535-1084.
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Official URL: http://dx.doi.org/10.1007/s12017-010-8139-1
Abstract
The childhood disorder spinal muscular atrophy (SMA) is caused by reduced expression of the survival motor neuron (SMN) protein. SMN is a multifunctional protein that has been implicated in the production, processing and transport of RNA and ribonucleoproteins (RNPs). Within the nucleus, SMN is predominantly targeted to Cajal bodies (CB), which are involved in the maturation and processing of several subclasses of RNPs. Here, we show that the SMN exon 2b–encoded domain (SMN2b) is independently sufficient to mediate CB targeting, but that the resulting bodies are less dynamic than those containing full-length SMN protein. We also show that while two SMN proteins harbouring SMA-causing point mutations (A2G and S262I) are efficiently targeted to CBs, they also display reduced nuclear movement.
| Item Type: | Journal Article | ||||||
|---|---|---|---|---|---|---|---|
| Divisions: | Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) | ||||||
| Journal or Publication Title: | NeuroMolecular Medicine | ||||||
| Publisher: | Springer | ||||||
| ISSN: | 1535-1084 | ||||||
| Official Date: | March 2011 | ||||||
| Dates: |
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| Volume: | 13 | ||||||
| Number: | 1 | ||||||
| Page Range: | pp. 77-87 | ||||||
| DOI: | 10.1007/s12017-010-8139-1 | ||||||
| Status: | Peer Reviewed | ||||||
| Publication Status: | Published | ||||||
| Access rights to Published version: | Restricted or Subscription Access |
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