Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy

Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):E2371-80. doi: 10.1073/pnas.1301738110. Epub 2013 Jun 11.

Abstract

The clinical severity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of functional Survival Motor Neuron (SMN) protein. Consequently, current strategies for developing treatments for SMA generally focus on augmenting SMN levels. To identify additional potential therapeutic avenues and achieve a greater understanding of SMN, we applied in vivo, in vitro, and in silico approaches to identify genetic and biochemical interactors of the Drosophila SMN homolog. We identified more than 300 candidate genes that alter an Smn-dependent phenotype in vivo. Integrating the results from our genetic screens, large-scale protein interaction studies, and bioinformatic analysis, we define a unique interactome for SMN that provides a knowledge base for a better understanding of SMA.

Keywords: ALS; disease model; neurodegeneration; neuromuscular junction; proteomics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Drosophila Proteins / genetics*
  • Gene Regulatory Networks
  • Genes, Insect*
  • Humans
  • Knowledge Bases
  • Neuromuscular Junction / genetics
  • Phenotype
  • RNA Interference
  • RNA-Binding Proteins / genetics*
  • Species Specificity
  • Spinal Muscular Atrophies of Childhood / genetics

Substances

  • Drosophila Proteins
  • RNA-Binding Proteins
  • Smn protein, Drosophila