The Down syndrome critical region regulates retinogeniculate refinement

J Neurosci. 2011 Apr 13;31(15):5764-76. doi: 10.1523/JNEUROSCI.6015-10.2011.

Abstract

Down syndrome (DS) is a developmental disorder caused by a third chromosome 21 in humans (Trisomy 21), leading to neurological deficits and cognitive impairment. Studies in mouse models of DS suggest that cognitive deficits in the adult are associated with deficits in synaptic learning and memory mechanisms, but it is unclear whether alterations in the early wiring and refinement of neuronal circuits contribute to these deficits. Here, we show that early developmental refinement of visual circuits is perturbed in mouse models of Down syndrome. Specifically, we find excessive eye-specific segregation of retinal axons in the dorsal lateral geniculate nucleus. Indeed, the degree of refinement scales with defects in the "Down syndrome critical region" (DSCR) in a dose-dependent manner. We further identify Dscam (Down syndrome cell adhesion molecule), a gene within the DSCR, as a regulator of eye-specific segregation of retinogeniculate projections. Although Dscam is not the sole gene in the DSCR contributing to enhanced refinement in trisomy, Dscam dosage clearly regulates cell spacing and dendritic fasciculation in a specific class of retinal ganglion cells. Thus, altered developmental refinement of visual circuits that occurs before sensory experience is likely to contribute to visual impairment in individuals with Down syndrome.

Publication types

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

MeSH terms

  • Algorithms
  • Animals
  • Bridged Bicyclo Compounds, Heterocyclic / administration & dosage
  • Bridged Bicyclo Compounds, Heterocyclic / pharmacology
  • Cell Adhesion Molecules / genetics
  • Cell Adhesion Molecules / physiology
  • Cell Count
  • Dendrites / physiology
  • Dose-Response Relationship, Drug
  • Down Syndrome / physiopathology*
  • Fasciculation / physiopathology
  • Gene Dosage
  • Geniculate Bodies / physiopathology*
  • Immunohistochemistry
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Microelectrodes
  • Neurons, Afferent / physiology
  • Nicotinic Agonists / administration & dosage
  • Nicotinic Agonists / pharmacology
  • Pyridines / administration & dosage
  • Pyridines / pharmacology
  • Retina / physiopathology*
  • Retinal Ganglion Cells / physiology
  • Trisomy / pathology
  • Visual Pathways / physiology

Substances

  • Bridged Bicyclo Compounds, Heterocyclic
  • Cell Adhesion Molecules
  • DSCAM protein, human
  • Nicotinic Agonists
  • Pyridines
  • epibatidine