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PMID:17785180

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Citation

Hippenmeyer, S, Huber, RM, Ladle, DR, Murphy, K and Arber, S (2007) ETS transcription factor Erm controls subsynaptic gene expression in skeletal muscles. Neuron 55:726-40

Abstract

Accumulation of specific proteins at synaptic structures is essential for synapse assembly and function, but mechanisms regulating local protein enrichment remain poorly understood. At the neuromuscular junction (NMJ), subsynaptic nuclei underlie motor axon terminals within extrafusal muscle fibers and are transcriptionally distinct from neighboring nuclei. In this study, we show that expression of the ETS transcription factor Erm is highly concentrated at subsynaptic nuclei, and its mutation in mice leads to severe downregulation of many genes with normally enriched subsynaptic expression. Erm mutant mice display an expansion of the muscle central domain in which acetylcholine receptor (AChR) clusters accumulate, show gradual fragmentation of AChR clusters, and exhibit symptoms of muscle weakness mimicking congenital myasthenic syndrome (CMS). Together, our findings define Erm as an upstream regulator of a transcriptional program selective to subsynaptic nuclei at the NMJ and underscore the importance of transcriptional control of local synaptic protein accumulation.

Links

PubMed Online version:10.1016/j.neuron.2007.07.028

Keywords

Animals; Cell Nucleus/genetics; Cell Nucleus/metabolism; DNA-Binding Proteins/genetics; DNA-Binding Proteins/metabolism; Down-Regulation/genetics; Gene Expression Regulation, Developmental/genetics; Mice; Mice, Knockout; Muscle Weakness/genetics; Muscle Weakness/metabolism; Muscle Weakness/physiopathology; Muscle, Skeletal/growth & development; Muscle, Skeletal/metabolism; Muscle, Skeletal/physiopathology; Mutation/genetics; Myasthenia Gravis/genetics; Myasthenia Gravis/metabolism; Myasthenia Gravis/physiopathology; Neuromuscular Junction/genetics; Neuromuscular Junction/growth & development; Neuromuscular Junction/metabolism; Receptor Aggregation/genetics; Receptors, Nicotinic/genetics; Receptors, Nicotinic/metabolism; Synaptic Membranes/genetics; Synaptic Membranes/metabolism; Synaptic Transmission/genetics; Transcription Factors/genetics; Transcription Factors/metabolism; Transcriptional Activation/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:ETV5

acts_upstream_of_or_within

GO:0007626: locomotory behavior

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3589421

P

Seeded From UniProt

complete

MOUSE:ETV5

acts_upstream_of_or_within

GO:0007274: neuromuscular synaptic transmission

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3589421

P

  • occurs_in:(EMAPA:17701)

Seeded From UniProt

complete

MOUSE:ETV5

acts_upstream_of_or_within

GO:0050807: regulation of synapse organization

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3589421

P

Seeded From UniProt

complete

MOUSE:ETV5

acts_upstream_of_or_within

GO:0071340: skeletal muscle acetylcholine-gated channel clustering

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3589421

P

  • occurs_in:(CL:0000188)
  • occurs_in:(EMAPA:17701)

Seeded From UniProt

complete


See also

References

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