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PMID:12533614

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Citation

Brandon, EP, Lin, W, D'Amour, KA, Pizzo, DP, Dominguez, B, Sugiura, Y, Thode, S, Ko, CP, Thal, LJ, Gage, FH and Lee, KF (2003) Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice. J. Neurosci. 23:539-49

Abstract

In this study we examined the developmental roles of acetylcholine (ACh) by establishing and analyzing mice lacking choline acetyltransferase (ChAT), the biosynthetic enzyme for ACh. As predicted, ChAT-deficient embryos lack both spontaneous and nerve-evoked postsynaptic potentials in muscle and die at birth. In mutant embryos, abnormally increased nerve branching occurs on contact with muscle, and hyperinnervation continues throughout subsequent prenatal development. Postsynaptically, ACh receptor clusters are markedly increased in number and occupy a broader muscle territory in the mutants. Concomitantly, the mutants have significantly more motor neurons than normal. At an ultrastructural level, nerve terminals are smaller in mutant neuromuscular junctions, and they make fewer synaptic contacts to the postsynaptic muscle membrane, although all of the typical synaptic components are present in the mutant. These results indicate that ChAT is uniquely essential for the patterning and formation of mammalian neuromuscular synapses.

Links

PubMed

Keywords

Animals; Cell Count; Cell Survival; Choline O-Acetyltransferase/deficiency; Choline O-Acetyltransferase/genetics; Diaphragm/embryology; Diaphragm/innervation; Diaphragm/pathology; Excitatory Postsynaptic Potentials/genetics; Gene Targeting; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Motor Neurons/pathology; Neuromuscular Diseases/congenital; Neuromuscular Diseases/genetics; Neuromuscular Diseases/pathology; Neuromuscular Junction/pathology; Neuromuscular Junction/ultrastructure; RNA, Messenger/biosynthesis; Receptor Aggregation; Receptors, Cholinergic/genetics; Receptors, Cholinergic/metabolism; Synapses/metabolism; Synapses/ultrastructure; Synaptic Transmission/genetics; Synaptophysin/biosynthesis

Significance

Annotations

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

MOUSE:ACES

located_in

GO:0045202: synapse

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:CLAT

acts_upstream_of_or_within

GO:0007529: establishment of synaptic specificity at neuromuscular junction

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2450310

P

Seeded From UniProt

complete

MOUSE:CLAT

acts_upstream_of_or_within

GO:0007268: chemical synaptic transmission

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2450310

P

Seeded From UniProt

complete

MOUSE:CLAT

enables

GO:0004102: choline O-acetyltransferase activity

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2450310

F

Seeded From UniProt

complete

MOUSE:SYPH

located_in

GO:0045202: synapse

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:SYPH

part_of

GO:0045202: synapse

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete


See also

References

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