Genomes and Genes
Gene Symbol: Chrnd
Description: cholinergic receptor, nicotinic, delta polypeptide
Alias: Achr-4, Acrd, L10076, acetylcholine receptor subunit delta, AChR delta subunit
- Martin M, Czajkowski C, Karlin A. The contributions of aspartyl residues in the acetylcholine receptor gamma and delta subunits to the binding of agonists and competitive antagonists. J Biol Chem. 1996;271:13497-503 pubmed..In these transitions, one possibility is that gammaAsp-174 and deltaAsp-180 move closer to bound agonist. ..
- Sugiyama F, Churchill G, Li R, Libby L, Carver T, Yagami K, et al. QTL associated with blood pressure, heart rate, and heart weight in CBA/CaJ and BALB/cJ mice. Physiol Genomics. 2002;10:5-12 pubmed..Identification of the genes for these QTL should lead to a better understanding of the causes of essential hypertension. ..
- Santos J, Cole Y, Pellicer A. Phylogenetic relationships among laboratory and wild-origin Mus musculus strains on the basis of genomic DNA RFLPs. Mamm Genome. 1993;4:485-92 pubmed..Natural. 106,283, 1972) and unbiased minimum (Genetics 89,583, 1978), Edwards (Biometrics 27,873, 1971; Genetic Distance, p. 41, 1974) and Rogers modified (1986). ..
- Markel P, Bennett B, Beeson M, Gordon L, Johnson T. Confirmation of quantitative trait loci for ethanol sensitivity in long-sleep and short-sleep mice. Genome Res. 1997;7:92-9 pubmed..This represents the first report of linkages for genes influencing alcohol action in any mammalian system using stringent, genome-wide mapping criteria. ..
- Yang X, Arber S, William C, Li L, Tanabe Y, Jessell T, et al. Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron. 2001;30:399-410 pubmed..Our results demonstrate that AChR expression is patterned in the absence of innervation, raising the possibility that similarly prepatterned muscle-derived cues restrict axon growth and initiate synapse formation. ..
- Baldwin T, Burden S. Isolation and characterization of the mouse acetylcholine receptor delta subunit gene: identification of a 148-bp cis-acting region that confers myotube-specific expression. J Cell Biol. 1988;107:2271-9 pubmed..Thus, 148 bp of 5' flanking DNA from the delta subunit gene contains all the information required for cell type-specific and differentiation-dependent expression of the AChR delta subunit.
- Hippenmeyer S, Huber R, Ladle D, Murphy K, Arber S. ETS transcription factor Erm controls subsynaptic gene expression in skeletal muscles. Neuron. 2007;55:726-40 pubmed..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. ..
- Mouslim C, Aittaleb M, Hume R, Akaaboune M. A role for the calmodulin kinase II-related anchoring protein (?kap) in maintaining the stability of nicotinic acetylcholine receptors. J Neurosci. 2012;32:5177-85 pubmed publisher..These results provide an unexpected mechanism by which ?kap controls receptor trafficking onto the surface of muscle cells and thus the maintenance of postsynaptic receptor density and synaptic function. ..
- Jaworski A, Burden S. Neuromuscular synapse formation in mice lacking motor neuron- and skeletal muscle-derived Neuregulin-1. J Neurosci. 2006;26:655-61 pubmed
- Spitzmaul G, Gumilar F, Dilger J, Bouzat C. The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms. Br J Pharmacol. 2009;157:804-17 pubmed publisher..Two analogous local anaesthetics bind to different sites and inhibit AChR activity via different mechanisms and conformational states. These results provide new information on drug modulation of AChR. ..
- Gu Y, Franco A, Gardner P, Lansman J, Forsayeth J, Hall Z. Properties of embryonic and adult muscle acetylcholine receptors transiently expressed in COS cells. Neuron. 1990;5:147-57 pubmed..Thus, some, but not all, of the differences between AChRs at adult endplates and those in the extrasynaptic membrane can be explained by the difference in subunit composition of gamma- and epsilon-AChRs. ..
- Herbst R, Avetisova E, Burden S. Restoration of synapse formation in Musk mutant mice expressing a Musk/Trk chimeric receptor. Development. 2002;129:5449-60 pubmed..Moreover, acetylcholine receptor clustering and motor terminal branching are restored in parallel, indicating that the extent of presynaptic differentiation is matched to the extent of postsynaptic differentiation. ..
- Marchand S, Devillers Thiery A, Pons S, Changeux J, Cartaud J. Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts. J Neurosci. 2002;22:8891-901 pubmed..These data also raise the interesting hypothesis of the participation of the raft machinery in the targeting of signaling molecules to synaptic sites. ..
- Yamane A, Saito T, Nakagawa Y, Ohnuki Y, Saeki Y. Changes in mRNA expression of nicotinic acetylcholine receptor subunits during embryonic development of mouse masseter muscle. Zoolog Sci. 2002;19:207-13 pubmed..The beginning of the expression of the epsilon subunit mRNA was coincident with the beginning of the decrease in the quantity of the gamma subunit mRNA, suggesting that the nAChR subunit switch begins at E17. ..
- Green K, Demuro A, Akbari Y, Hitt B, Smith I, Parker I, et al. SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production. J Cell Biol. 2008;181:1107-16 pubmed publisher..Our results point to a physiological role for the presenilins in Ca(2+) signaling via regulation of the SERCA pump. ..
- Rudell J, Borges L, Rudell J, Beck K, Ferns M. Determinants in the ? and ? subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. J Biol Chem. 2014;289:203-14 pubmed publisher..Together, these results define molecular determinants that govern a Golgi-based regulatory step in nicotinic AChR trafficking. ..
- Wen P, Warden C, Fletcher B, Kujubu D, Herschman H, Lusis A. Chromosomal organization of the inducible and constitutive prostaglandin synthase/cyclooxygenase genes in mouse. Genomics. 1993;15:458-60 pubmed
- Lin W, Dominguez B, Yang J, Aryal P, Brandon E, Gage F, et al. Neurotransmitter acetylcholine negatively regulates neuromuscular synapse formation by a Cdk5-dependent mechanism. Neuron. 2005;46:569-79 pubmed..Genetic elimination of Cdk5 or blocking ACh production prevents the dispersion of AChR clusters in agrin mutants. Therefore, we propose that ACh negatively regulates neuromuscular synapse formation through a Cdk5-dependent mechanism. ..
- Xia Y, Andersen B, Mehrabian M, Diep A, Warden C, Mohandas T, et al. Chromosomal organization of mammalian POU domain factors. Genomics. 1993;18:126-30 pubmed..Some of these newly localized genes map in close proximity to existing mouse mutations. ..
- Christianson J, Green W. Regulation of nicotinic receptor expression by the ubiquitin-proteasome system. EMBO J. 2004;23:4156-65 pubmed..Our data show that AChR surface expression is regulated by the UPS through ERAD, whose activity determines oligomeric receptor assembly efficiency. ..
- Bigger C, Casanova E, Gardner P. Transcriptional regulation of neuronal nicotinic acetylcholine receptor genes. Functional interactions between Sp1 and the rat beta4 subunit gene promoter. J Biol Chem. 1996;271:32842-8 pubmed..Furthermore, co-transfection experiments confirmed that Sp1 can transactivate a beta4 promoter-reporter gene construct, indicating that Sp1 is necessary, at least in part, for transcriptional activation of the beta4 subunit gene. ..
- Jadey S, Purohit P, Bruhova I, Gregg T, Auerbach A. Design and control of acetylcholine receptor conformational change. Proc Natl Acad Sci U S A. 2011;108:4328-33 pubmed publisher..Gating rate and equilibrium constants are estimated for seven different AChR agonists using a stepwise engineering approach. ..
- Gallegos C, Pediconi M, Barrantes F. Ceramides modulate cell-surface acetylcholine receptor levels. Biochim Biophys Acta. 2008;1778:917-30 pubmed..These effects do not involve protein kinase C zeta or protein phosphatase 2A activation. Taken together, the results indicate that Cer modulate trafficking of AChRs to and stability at the cell surface. ..
- Gomez C, Bhattacharyya B, Charnet P, Day J, Labarca C, Wollmann R, et al. A transgenic mouse model of the slow-channel syndrome. Muscle Nerve. 1996;19:79-87 pubmed..Furthermore these data support the hypothesis that the electrophysiological findings in the neuromuscular disorder, the slow-channel syndrome, are due to mutant AChRs. ..
- Duclert A, Changeux J. Acetylcholine receptor gene expression at the developing neuromuscular junction. Physiol Rev. 1995;75:339-68 pubmed
- LeBoeuf R, Xia Y, Oram J, Lusis A. Mapping of the gene for high-density lipoprotein binding protein (Hdlbp) to proximal mouse chromosome 1. Genomics. 1994;23:296-8 pubmed
- Noakes P, Phillips W, Hanley T, Sanes J, Merlie J. 43K protein and acetylcholine receptors colocalize during the initial stages of neuromuscular synapse formation in vivo. Dev Biol. 1993;155:275-80 pubmed..The precise colocalization of 43K and AChRs persisted through development. These results are consistent with 43K being involved in the nerve-induced clustering of AChRs during synapse formation. ..
- Weatherbee S, Anderson K, Niswander L. LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development. 2006;133:4993-5000 pubmed..The identification of Lrp4 as a crucial factor for NMJ formation may have implications for human neuromuscular diseases such as myasthenia syndromes. ..
- Keller S, Lindstrom J, Taylor P. Involvement of the chaperone protein calnexin and the acetylcholine receptor beta-subunit in the assembly and cell surface expression of the receptor. J Biol Chem. 1996;271:22871-7 pubmed..Thus, calnexin appears to associate with the individual nascent subunits, thereby facilitating their assembly into the mature pentameric receptor. ..
- Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008;82:464-76 pubmed publisher..Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or compound nonsense-..
- Lee Y, Rudell J, Yechikhov S, Taylor R, Swope S, Ferns M. Rapsyn carboxyl terminal domains mediate muscle specific kinase-induced phosphorylation of the muscle acetylcholine receptor. Neuroscience. 2008;153:997-1007 pubmed publisher..Together, these findings suggest that rapsyn facilitates AChR phosphorylation by activating or localizing tyrosine kinases via its C-terminal domains. ..
- Watson J, Bhattacharyya B, Vaden J, Wilson J, Icyuz M, Howard A, et al. Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS. PLoS Genet. 2015;11:e1005290 pubmed publisher..Our results indicate that HGS has multiple roles in the nervous system and demonstrate a previously unanticipated requirement for ESCRTs in the maintenance of synaptic transmission. ..
- Sapru M, Gao J, Walke W, Burmeister M, Goldman D. Cloning and characterization of a novel transcriptional repressor of the nicotinic acetylcholine receptor delta-subunit gene. J Biol Chem. 1996;271:7203-11 pubmed..Finally, the gene encoding MY1/1a, Yb2, maps to the mid-distal region of mouse chromosome 6. ..
- Hasty P, Bradley A, Morris J, Edmondson D, Venuti J, Olson E, et al. Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene. Nature. 1993;364:501-6 pubmed..Myogenin-mutant mice differ from mice carrying mutations in genes for the related myogenic factors Myf5 and MyoD, which have no muscle defects. Myogenin is therefore essential for the development of functional skeletal muscle. ..
- Crowder C, Merlie J. Stepwise activation of the mouse acetylcholine receptor delta- and gamma-subunit genes in clonal cell lines. Mol Cell Biol. 1988;8:5257-67 pubmed
- Yamane A, Ohnuki Y, Saeki Y. Developmental changes in the nicotinic acetylcholine receptor in mouse tongue striated muscle. J Dent Res. 2001;80:1840-4 pubmed..The early completion of synaptogenesis in the tongue at birth may be related to the early functional demands placed on the tongue, such as suckling and swallowing, immediately after birth. ..
- Lanuza M, Besalduch N, Gonzalez C, Santafe M, Garcia N, Tomas M, et al. Decreased phosphorylation of ? and ? subunits of the acetylcholine receptor coincides with delayed postsynaptic maturation in PKC ? deficient mouse. Exp Neurol. 2010;225:183-95 pubmed publisher..The results allow us to hypothesize that a spatially specific and opposing action of PKCtheta and PKA may result in activity-dependent alterations to synaptic connectivity at both the nerve inputs and the postsynaptic nAChR clusters. ..
- Drescher D, Khan K, Green G, Morley B, Beisel K, Kaul H, et al. Analysis of nicotinic acetylcholine receptor subunits in the cochlea of the mouse. Comp Biochem Physiol C Pharmacol Toxicol Endocrinol. 1995;112:267-73 pubmed..The presence of messages corresponding to the muscle-type beta 1 and neuronal-type nAChR subunits may be correlated with the atypical cholinergic response of cochlear hair cells to agonists and antagonists. ..
- Gupta S, Purohit P, Auerbach A. Function of interfacial prolines at the transmitter-binding sites of the neuromuscular acetylcholine receptor. J Biol Chem. 2013;288:12667-79 pubmed publisher..In adult-type ACh receptors, the energy from the affinity change for ACh is approximately the same at the two binding sites (approximately -5 kcal/mol). ..
- LaPolla R, Mayne K, Davidson N. Isolation and characterization of a cDNA clone for the complete protein coding region of the delta subunit of the mouse acetylcholine receptor. Proc Natl Acad Sci U S A. 1984;81:7970-4 pubmed..The mouse protein has the same general structural features as do the Torpedo subunits. It is encoded by a 3.3-kilobase mRNA. There is probably only one, but at most two, chromosomal genes coding for this or closely related sequences. ..
- An M, Lin W, Yang J, Dominguez B, Padgett D, Sugiura Y, et al. Acetylcholine negatively regulates development of the neuromuscular junction through distinct cellular mechanisms. Proc Natl Acad Sci U S A. 2010;107:10702-7 pubmed publisher..Together, these data suggest that ACh negatively regulates axon growth and presynaptic specialization at the neuromuscular junction through distinct cellular mechanisms. ..