Ectopic synaptogenesis in the mammalian retina caused by rod photoreceptor-specific mutations

Nat Neurosci. 2000 Nov;3(11):1121-7. doi: 10.1038/80639.


In addition to rod photoreceptor loss, many mutations in rod photoreceptor-specific genes cause degeneration of other neuronal types. Identifying mechanisms of cell-cell interactions initiated by rod-specific mutations and affecting other retinal cells is important for understanding the pathogenesis and progression of retinal degeneration. Here we show in animals with rod and cone degeneration due to mutations in the genes encoding rhodopsin and cGMP phosphodiesterase beta-subunit (PDE-beta) respectively, that rod bipolar cells received ectopic synapses from cones in the absence of rods. Thus, synaptic plasticity links certain rod-specific mutations to retina-wide structural alterations that involve different types of neurons.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics
  • 3',5'-Cyclic-GMP Phosphodiesterases / metabolism
  • Animals
  • Animals, Genetically Modified
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • GTP-Binding Proteins / metabolism
  • Mice
  • Mutation / physiology*
  • Nerve Degeneration / genetics
  • Nerve Degeneration / metabolism
  • Neuronal Plasticity / physiology*
  • Phosphoric Diester Hydrolases*
  • Retina / physiology
  • Retinal Cone Photoreceptor Cells / cytology
  • Retinal Cone Photoreceptor Cells / physiology*
  • Retinal Rod Photoreceptor Cells / cytology
  • Retinal Rod Photoreceptor Cells / physiology*
  • Rhodopsin / genetics
  • Rhodopsin / metabolism
  • Swine
  • Synapses / physiology*


  • Rhodopsin
  • Phosphoric Diester Hydrolases
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • Pde6b protein, mouse
  • GTP-Binding Proteins