ArticleProceedings of the National Academy of Sciences of the United States of America1995
Identification of a DNA element determining synaptic expression of the mouse acetylcholine receptor delta-subunit gene.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 103 citations in OpenAlex.
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- Single-nuclei sequencing of skeletal muscle reveals subsynaptic-specific transcripts involved in neuromuscular junction maintenance.Nature communications · 2025Article
- The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.Biomolecules & biomedicine · 2023Review
- Transcriptional Silencers in Drosophila Serve a Dual Role as Transcriptional Enhancers in Alternate Cellular Contexts.Molecular cell · 2020Article
- The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle.Frontiers in molecular neuroscience · 2020Review
- The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis.Frontiers in molecular neuroscience · 2020Review
- 2015 William Allan Award.American journal of human genetics · 2016Article
- HuR Mediates Changes in the Stability of AChR β-Subunit mRNAs after Skeletal Muscle Denervation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.Scientific reports · 2014Article
- GA binding protein augments autophagy via transcriptional activation of BECN1-PIK3C3 complex genes.Autophagy · 2014Article
- HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.Scientific reports · 2013Article
- Muscle-derived collagen XIII regulates maturation of the skeletal neuromuscular junction.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.Human molecular genetics · 2008Article
- Targeting the GA binding protein beta1L isoform does not perturb lymphocyte development and function.Molecular and cellular biology · 2008Article
- Ets-2 repressor factor silences extrasynaptic utrophin by N-box mediated repression in skeletal muscle.Molecular biology of the cell · 2007Article
- GA-binding protein is dispensable for neuromuscular synapse formation and synapse-specific gene expression.Molecular and cellular biology · 2007Article
- Targeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.Molecular and cellular biology · 2007Article
- PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy.Genes & development · 2007Article
- Postsynaptic chromatin is under neural control at the neuromuscular junction.The EMBO journal · 2007Article
- LL5beta: a regulator of postsynaptic differentiation identified in a screen for synaptically enriched transcripts at the neuromuscular junction.The Journal of cell biology · 2005Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
mRNAs for acetylcholine receptor genes are highly concentrated in the endplate region of adult skeletal muscle largely as a result of a transcription restricted to the subneural nuclei. To identify the regulatory elements involved, we employed a DNA injection of a plasmid containing a fragment of the acetylcholine receptor delta-subunit gene promoter (positions -839 to +45) linked to the reporter gene lacZ with a nuclear localization signal. Injection of the wild-type construct into mouse leg muscles yielded preferential expression of the reporter gene in the synaptic region. Analysis of various mutant promoters resulted in the identification of a DNA element (positions -60 to -49), referred to as the N box, that plays a critical role in subneural expression. Disruption of this 12-bp element in the context of a mouse delta-subunit promoter from positions -839 to +45 gives widespread expression of the reporter gene throughout the entire muscle fiber, indicating that this element is a silencer that represses delta-subunit gene transcription in extrajunctional areas. On the other hand, this element inserted upstream of a heterologous basal promoter preferentially enhances expression in the endplate region. This element therefore regulates the restricted expression of the delta-subunit gene both as an enhancer at the endplate level and as a silencer in extrajunctional areas. Furthermore, gel-shift experiments with mouse muscle extracts reveal an activity that specifically binds the 6-bp sequence TTCCGG of this element, suggesting that a transcription factor(s) controls the expression of the delta-subunit gene via this element.
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