Survival of motor neuron

Survival motor neuron protein

Tudor domain from human SMN. PDB 1g5v[1]
Identifiers
Symbol SMN
Pfam PF06003
Pfam clan CL0049
InterPro IPR010304
SCOP 1mhn
SUPERFAMILY 1mhn

The Survival of Motor Neuron (SMN) is a protein involved in the assembly of snRNPs, the essential components of spliceosomal machinery. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.

SMN also functions in transcriptional regulation, telomerase regeneration and cellular trafficking.[2]

A 2004 study using high-throughput screening found indoprofen to increase production of the survival of motor neuron protein, suggesting it may provide insight into treatments for spinal muscular atrophies.[3]

Later research show a possible role of SMN in neuronal migration and/or differentiation.[4]

Evolutionary conservation

SMN is evolutionary conserved including the Fungi kingdom, though only fungal organisms with a great number of introns has the smn gene (or the spf30 paralogue). Surprisingly, these are filamentous fungus which have mycelia, so suggesting analogy to the neuronal axons.[5]

See also

References

  1. ↑ Sattler, M.; Selenko, P.; Sprangers, R.; Stier, G.; Bühler, D.; Fischer, U. (2001). "SMN tudor domain structure and its interaction with the Sm proteins". Nature Structural Biology 8 (1): 27–31. doi:10.1038/83014. PMID 11135666.
  2. ↑ Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN. (2009). "A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy". RNA Biology.
  3. ↑ Lunn MR, Root DE, Martino AM, et al. (2004). "Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism". Chem Biol 11 (11): 1489–93. doi:10.1016/j.chembiol.2004.08.024. PMC 3160629. PMID 15555999.
  4. ↑ http://cat.inist.fr/?aModele=afficheN&cpsidt=17713178
  5. ↑ Mier P, Pérez-Pulido AJ (2012). "Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy". Gene 491 (2): 135–41. doi:10.1016/j.gene.2011.10.006. PMID 22020225.

External links


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