Human molecular genetics · 2005
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.
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Gabanella Francesca, Carissimi Claudia, Usiello Alessandro, Pellizzoni Livio
Аннотация
Spinal muscular atrophy (SMA) is a lethal neuromuscular disease caused by reduced levels of expression of the survival motor neuron (SMN) protein. SMN is part of a macromolecular complex essential for the assembly of the small nuclear ribonucleoproteins (snRNPs) that carry out pre-mRNA splicing. Although the SMN complex has the potential to control the pathway of snRNP biogenesis, it is not known whether SMN function in snRNP assembly is regulated. Here, we analyze SMN interactions and function in mouse tissues and show that, when normalized per cell number, similar levels of the SMN complex are expressed throughout the ontogenesis of the central nervous system (CNS). Strikingly, however, SMN function in snRNP assembly in extracts does not correlate with its expression levels and it varies greatly both among tissues and during development. The highest levels of SMN activity are found during the embryonic and early postnatal development of the CNS and are followed by a sharp decrease to a basal level, which is then maintained throughout life. This downregulation takes place in the spinal cord earlier than in the brain and coincides with the onset of myelination. Using model cell systems and pulse-labeling experiments, we further show that SMN activity and snRNP synthesis are strongly downregulated upon neuronal as well as myogenic differentiation, and linked to the rate of global transcription of postmitotic neurons and myotubes. These results demonstrate that the SMN complex activity in snRNP assembly is regulated and point to a differential requirement for SMN function during development and cellular differentiation.
Предметные рубрики MeSH
AnimalsAutoantigensBrainCell DifferentiationCentral Nervous SystemCyclic AMP Response Element-Binding ProteinDown-RegulationFemaleMiceMuscle CellsNerve Tissue ProteinsNeuronsRNA-Binding ProteinsRibonucleoprotein, U1 Small NuclearRibonucleoproteins, Small NuclearSMN Complex ProteinsSpinal CordsnRNP Core Proteins