Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies

Morse, Robert and Todd, Adrian G. and Shaw, Debra J. and McConville, Alison L. and 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. ISSN 1535-1084

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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
Journal or Publication Title:
NeuroMolecular Medicine
Uncontrolled Keywords:
/dk/atira/pure/subjectarea/asjc/2800/2804
Subjects:
ID Code:
203301
Deposited By:
Deposited On:
13 Sep 2023 15:40
Refereed?:
Yes
Published?:
Published
Last Modified:
17 Sep 2023 03:30