Identification of an element crucial for the sub-synaptic expression of the acetylcholine receptor epsilon-subunit gene

J Biol Chem. 1996 Jul 19;271(29):17433-8. doi: 10.1074/jbc.271.29.17433.

Abstract

The adult neuromuscular junction displays an accumulation of both the acetylcholine receptor (AChR) protein in the subneural domain of the post-synaptic membrane and the mRNAs coding for all its subunits at the level of the subjunctional "fundamental nuclei." In the course of end plate development, the epsilon-subunit, at variance with other subunits, becomes exclusively expressed at the level of the fundamental nuclei, yet at a rather late stage (around birth). To analyze the promoter region of the epsilon-subunit gene which directs its specific expression at the synapse, we used a quantitative transient in vivo expression assay in intact muscle tissue using constructs of the epsilon-subunit promoter placed upstream of the beta-galactosidase reporter gene. One crucial element for synapse-specific expression was detected between the -11 and -6 positions. Disruption of this element, either by a scanning mutation or single base mutations, greatly diminishes, or even completely inhibits, preferential expression of the transgene at the end plate. Gel shift experiments reveal the presence of a complex in nuclear muscle extracts that bind the core sequence of this element. The identification of such a site opens the possibility to identify regulatory factors responsible for compartmentalized expression at the neuromuscular junction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging / physiology*
  • Animals
  • Base Sequence
  • Gene Expression Regulation, Developmental*
  • Macromolecular Substances
  • Mice
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Oligonucleotide Probes
  • Point Mutation
  • Promoter Regions, Genetic*
  • Receptors, Cholinergic / biosynthesis*
  • Receptors, Cholinergic / genetics
  • Recombinant Fusion Proteins / biosynthesis
  • Sequence Deletion
  • Transcription, Genetic*
  • beta-Galactosidase / biosynthesis

Substances

  • Macromolecular Substances
  • Oligonucleotide Probes
  • Receptors, Cholinergic
  • Recombinant Fusion Proteins
  • beta-Galactosidase