IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration

PLoS One. 2012;7(2):e32050. doi: 10.1371/journal.pone.0032050. Epub 2012 Feb 23.

Abstract

Familial Dysautonomia (FD; Hereditary Sensory Autonomic Neuropathy; HSAN III) manifests from a failure in development of the peripheral sensory and autonomic nervous systems. The disease results from a point mutation in the IKBKAP gene, which encodes the IKAP protein, whose function is still unresolved in the developing nervous system. Since the neurons most severely depleted in the disease derive from the neural crest, and in light of data identifying a role for IKAP in cell motility and migration, it has been suggested that FD results from a disruption in neural crest migration. To determine the function of IKAP during development of the nervous system, we (1) first determined the spatial-temporal pattern of IKAP expression in the developing peripheral nervous system, from the onset of neural crest migration through the period of programmed cell death in the dorsal root ganglia, and (2) using RNAi, reduced expression of IKBKAP mRNA in the neural crest lineage throughout the process of dorsal root ganglia (DRG) development in chick embryos in ovo. Here we demonstrate that IKAP is not expressed by neural crest cells and instead is expressed as neurons differentiate both in the CNS and PNS, thus the devastation of the PNS in FD could not be due to disruptions in neural crest motility or migration. In addition, we show that alterations in the levels of IKAP, through both gain and loss of function studies, perturbs neuronal polarity, neuronal differentiation and survival. Thus IKAP plays pleiotropic roles in both the peripheral and central nervous systems.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Antibodies, Monoclonal / chemistry
  • Carrier Proteins / metabolism
  • Carrier Proteins / physiology*
  • Caspase 3 / metabolism
  • Cell Differentiation
  • Cell Movement
  • Cell Survival
  • Central Nervous System
  • Chick Embryo
  • Cloning, Molecular
  • DNA, Complementary / metabolism
  • Electroporation
  • Ganglia, Spinal / metabolism
  • Humans
  • Models, Biological
  • Nervous System
  • Neural Crest / pathology*
  • Neurogenesis*
  • Neurons / metabolism
  • Neurons / physiology*
  • Nucleic Acid Hybridization
  • Plasmids / metabolism
  • Transcriptional Elongation Factors

Substances

  • Antibodies, Monoclonal
  • Carrier Proteins
  • DNA, Complementary
  • Elp1 protein, human
  • Transcriptional Elongation Factors
  • Caspase 3