Molecular and genetic analysis of the Drosophila model of fragile X syndrome

Results Probl Cell Differ. 2012;54:119-56. doi: 10.1007/978-3-642-21649-7_7.


The Drosophila genome contains most genes known to be involved in heritable disease. The extraordinary genetic malleability of Drosophila, coupled to sophisticated imaging, electrophysiology, and behavioral paradigms, has paved the way for insightful mechanistic studies on the causes of developmental and neurological disease as well as many possible interventions. Here, we focus on one of the most advanced examples of Drosophila genetic disease modeling, the Drosophila model of Fragile X Syndrome, which for the past decade has provided key advances into the molecular, cellular, and behavioral defects underlying this devastating disorder. We discuss the multitude of RNAs and proteins that interact with the disease-causing FMR1 gene product, whose function is conserved from Drosophila to human. In turn, we consider FMR1 mechanistic relationships in non-neuronal tissues (germ cells and embryos), peripheral motor and sensory circuits, and central brain circuits involved in circadian clock activity and learning/memory.

MeSH terms

  • Animals
  • Disease Models, Animal*
  • Drosophila / anatomy & histology
  • Drosophila / genetics*
  • Drosophila / physiology*
  • Drosophila Proteins / genetics
  • Drosophila Proteins / metabolism
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Mental Retardation Protein / metabolism
  • Fragile X Syndrome / physiopathology*
  • Humans
  • MicroRNAs / genetics
  • MicroRNAs / metabolism
  • Mushroom Bodies / anatomy & histology
  • Mushroom Bodies / physiology
  • Proteome / analysis


  • Drosophila Proteins
  • MicroRNAs
  • Proteome
  • Fragile X Mental Retardation Protein