Chrnb1

Summary

Gene Symbol: Chrnb1
Description: cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
Alias: Achr-2, Acrb, acetylcholine receptor subunit beta, AChR beta, acetylcholine receptor beta
Species: mouse
Products:     Chrnb1

Top Publications

  1. 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. ..
  2. Engel A, Ohno K, Milone M, Wang H, Nakano S, Bouzat C, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996;5:1217-27 pubmed
    ..The safety margin of neuromuscular transmission is compromised by AChR loss from the junctional folds and by a depolarization block owing to temporal summation of prolonged end plate potentials at physiologic rates of stimulation. ..
  3. Reiner O, Albrecht U, Gordon M, Chianese K, Wong C, Gal Gerber O, et al. Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. J Neurosci. 1995;15:3730-8 pubmed
    ..The direct correlation between cortical defects in MDS patients and Lis1 expression in the murine cortex suggest that the mouse is a model system suitable to study the mechanistic basis of this intriguing genetic disease. ..
  4. 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 ..
  5. 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. ..
  6. Yang Y, Womack J. Human chromosome 17 comparative anchor loci are conserved on bovine chromosome 19. Genomics. 1995;27:293-7 pubmed
    Eight comparative anchor loci on human chromosome 17, TP53, CHRNB1, THRA1, CRYB1, NF1, MPO, MYL4, and P4HB, were mapped to bovine chromosome 19 using bovine x hamster and bovine x mouse hybrid somatic cell lines...
  7. 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. ..
  8. Akk G, Eaton M, Li P, Zheng S, Lo J, Steinbach J. Energetic contributions to channel gating of residues in the muscle nicotinic receptor ?1 subunit. PLoS ONE. 2013;8:e78539 pubmed publisher
    ..We conclude that the conformational changes involved in channel gating propagate from the binding-site to the channel in the ACh-binding subunits and subsequently spread to the non-binding subunit. ..
  9. Cornall R, Friedman J, Todd J. Mouse microsatellites from a flow-sorted 4:6 Robertsonian chromosome. Mamm Genome. 1992;3:620-4 pubmed
    ..Eight (62%) of the 13 repeats that have been mapped lie on Chromosomes (Chr) 4 and 6. This approach is an effective way of generating informative markers on specific chromosomes. ..

More Information

Publications48

  1. Kuo C, Nishikawa E, Ichikawa H, Sadakata T, Niu S, Miki N. Calmodulin functions as an activator of Pur alpha binding to single-stranded purine-rich DNA elements (PUR elements). Biochem Biophys Res Commun. 1999;255:406-11 pubmed
    ..The data suggest a novel gene expression pathway mediated by Ca/CaM-Pur alpha which may regulate a variety of genes in addition to those regulated through the CREB pathway. ..
  2. Zoli M, Lena C, Picciotto M, Changeux J. Identification of four classes of brain nicotinic receptors using beta2 mutant mice. J Neurosci. 1998;18:4461-72 pubmed
    ..Type 4 nAChRs also exhibit faster desensitization than type 3 nAChRs at high doses of nicotine. Knock-out animals lacking individual alpha subunits should allow a further dissection of nAChR subclasses. ..
  3. Elliott R, Pazik J. An interstitial telomere array near Hba on mouse Chr 11 is a candidate for the homolog of the telomere at human 16p. Genomics. 1995;27:217-8 pubmed
  4. Duclert A, Changeux J. Acetylcholine receptor gene expression at the developing neuromuscular junction. Physiol Rev. 1995;75:339-68 pubmed
  5. Takahashi Y, Shimizu A, Sakai T, Endo Y, Osawa N, Shisa H, et al. Mapping of the nu gene using congenic nude strains and in situ hybridization. J Exp Med. 1992;175:873-6 pubmed
    ..is responsible for hairlessness and athymus, was determined using six DNA markers (interleukin 3 [Il-3], Myhs, Acrb, Evi-2, Mpo, and Hox-2) on mouse chromosome 11...
  6. 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. ..
  7. 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. ..
  8. Zhuang S, Eklund L, Cochran C, Rao G, Wiseman R, Soderkvist P. Allelotype analysis of 2',3'-dideoxycytidine- and 1,3-butadiene-induced lymphomas in B6C3F1 mice. Cancer Res. 1996;56:3338-43 pubmed
    ..Finally, 19% of ddC-induced and 29% of BD-induced lymphomas revealed LOH on chromosome 11 at the Acrb locus, which lies within 1 cM of p53, suggesting that the p53 tumor suppressor gene also plays a role in ..
  9. Friese M, Blagden C, Burden S. Synaptic differentiation is defective in mice lacking acetylcholine receptor beta-subunit tyrosine phosphorylation. Development. 2007;134:4167-76 pubmed
    ..The importance of AChR beta-subunit tyrosine phosphorylation in clustering AChRs and regulating synaptic differentiation is poorly ..
  10. Morris Rosendahl D, Schriever Schwemmer G, Robinson T. Derivation and characterization of a somatic cell hybrid containing the portion of mouse chromosome 11 (MMU11) homologous to human chromosome 17q. J Hered. 1996;87:252-8 pubmed
    ..T16Ad14B and T16Ad19A hybrids localized the T16Ad translocation breakpoint between the proximal markers Atplb2 and Acrb and the more distal markers Scya2 and Mpo...
  11. 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. ..
  12. 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. ..
  13. Tezuka T, Inoue A, Hoshi T, Weatherbee S, Burgess R, Ueta R, et al. The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses. Proc Natl Acad Sci U S A. 2014;111:16556-61 pubmed publisher
  14. 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). ..
  15. Rudell J, Ferns M. Regulation of muscle acetylcholine receptor turnover by ? subunit tyrosine phosphorylation. Dev Neurobiol. 2013;73:399-410 pubmed publisher
    ..This likely stabilizes AChR at developing synapses, and contributes to the extended half-life of AChR at adult NMJs. ..
  16. 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. ..
  17. Bruneau E, Brenner D, Kuwada J, Akaaboune M. Acetylcholine receptor clustering is required for the accumulation and maintenance of scaffolding proteins. Curr Biol. 2008;18:109-15 pubmed publisher
    ..These results provide direct evidence that AChRs are essential for the local maintenance and accumulation of intracellular scaffolding proteins and suggest that the scaffold is organized into distinct modular units at AChR clusters. ..
  18. Yeung R, Buetow K, Testa J, Knudson A. Susceptibility to renal carcinoma in the Eker rat involves a tumor suppressor gene on chromosome 10. Proc Natl Acad Sci U S A. 1993;90:8038-42 pubmed
    ..Our result suggested that the human homolog of the RC gene may reside on human chromosome 16, not known to be altered commonly in human RC. ..
  19. Remédio L, Gribble K, Lee J, Kim N, Hallock P, Delestrée N, et al. Diverging roles for Lrp4 and Wnt signaling in neuromuscular synapse development during evolution. Genes Dev. 2016;30:1058-69 pubmed publisher
    ..Our findings demonstrate that evolutionary divergent mechanisms establish muscle prepatterning in zebrafish and mice. ..
  20. Matsuda Y, Shiroishi T, Moriwaki K, Nonaka M, Natsuume Sakai S. Molecular cloning of mouse beta 2-glycoprotein I and mapping of the gene to chromosome 11. Genomics. 1992;13:1082-7 pubmed
    ..is located on the terminal portion of the D region of chromosome 11, closely linked to Gfap, and is 18 cM distal to Acrb, extending a conserved linkage group between mouse chromosome 11 and human chromosome 17...
  21. Gonzalez Gutierrez G, Lukk T, Agarwal V, Papke D, Nair S, Grosman C. Mutations that stabilize the open state of the Erwinia chrisanthemi ligand-gated ion channel fail to change the conformation of the pore domain in crystals. Proc Natl Acad Sci U S A. 2012;109:6331-6 pubmed publisher
    ..Overall, our findings bring to light the limited power of functional studies in intact membranes when it comes to inferring the functional state of a channel in a crystal, at least in the case of the nicotinic-receptor superfamily...
  22. Blackburn C, Griffith J, Morahan G. A high-resolution map of the chromosomal region surrounding the nude gene. Genomics. 1995;26:308-17 pubmed
    ..that was previously mapped to a 9-cM region of murine chromosome 11 bounded by loci encoding the acetylcholine receptor beta subunit and myeloperoxidase...
  23. Elenes S, Decker M, Cymes G, Grosman C. Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants. J Gen Physiol. 2009;133:151-69 pubmed publisher
    ..Our estimate of the rat NMDAR Ca(2+) conductance (using the same single-channel approach as for the AChR but in the nominal absence of extracellular Mg(2+)) was 7.9 pS, corresponding to a fractional Ca(2+) current of 13%. ..
  24. Buonanno A, Mudd J, Merlie J. Isolation and characterization of the beta and epsilon subunit genes of mouse muscle acetylcholine receptor. J Biol Chem. 1989;264:7611-6 pubmed
    ..The analysis showed that the first 4 exons and the last exon of all muscle and brain nAChR subunit genes have the same boundaries, with the exception of a nAChR-related gene in Drosophila. ..
  25. Dickerman R, Feinstein R, Grahn D. Position of the acatalasemia gene in linkage group V of the mouse. J Hered. 1968;59:177-8 pubmed
  26. Todd J, Aitman T, Cornall R, Ghosh S, Hall J, Hearne C, et al. Genetic analysis of autoimmune type 1 diabetes mellitus in mice. Nature. 1991;351:542-7 pubmed
    ..On the basis of comparative maps of the mouse and human genomes, the homologue of Idd-3 may reside on human chromosomes 1 or 4 and Idd-4 on chromosome 17. ..
  27. Buonanno A, Mudd J, Shah V, Merlie J. A universal oligonucleotide probe for acetylcholine receptor genes. Selection and sequencing of cDNA clones for the mouse muscle beta subunit. J Biol Chem. 1986;261:16451-8 pubmed
    ..Utilization of this oligonucleotide probe should prove useful for screening a variety of libraries made from different species and tissues which are known to express AChRs. ..
  28. Heidmann O, Buonanno A, Geoffroy B, Robert B, Guenet J, Merlie J, et al. Chromosomal localization of muscle nicotinic acetylcholine receptor genes in the mouse. Science. 1986;234:866-8 pubmed
  29. Smith C, Mittaud P, Prescott E, Fuhrer C, Burden S. Src, Fyn, and Yes are not required for neuromuscular synapse formation but are necessary for stabilization of agrin-induced clusters of acetylcholine receptors. J Neurosci. 2001;21:3151-60 pubmed
    ..and laminin-1 induced normal clustering of AChRs and that agrin induced normal tyrosine phosphorylation of the AChR beta subunit in the absence of Src and Fyn...
  30. 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. ..
  31. 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. ..
  32. 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. ..
  33. 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. ..
  34. 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. ..
  35. Borges L, Yechikhov S, Lee Y, Rudell J, Friese M, Burden S, et al. Identification of a motif in the acetylcholine receptor beta subunit whose phosphorylation regulates rapsyn association and postsynaptic receptor localization. J Neurosci. 2008;28:11468-76 pubmed publisher
    ..Phosphorylation of the AChR beta subunit is correlated with increased rapsyn/AChR binding, suggesting that the effect of betaY390 phosphorylation ..
  36. 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. ..
  37. Wang Z, Washabaugh C, Yao Y, Wang J, Zhang L, Ontell M, et al. Aberrant development of motor axons and neuromuscular synapses in MyoD-null mice. J Neurosci. 2003;23:5161-9 pubmed
    ..However, MyoD-/- mice assemble a complex postsynaptic apparatus that includes muscle-specific kinase (MuSK), rapsyn, erbB, and utrophin. ..
  38. Tsunoyama K, Gojobori T. Evolution of nicotinic acetylcholine receptor subunits. Mol Biol Evol. 1998;15:518-27 pubmed
    ..Thus, the window analysis of the f values is useful for evaluating the degree of functional constraints in not only the entire gene region, but also the within-gene subregion. ..
  39. Byrd L. Regional localization of the nu mutation on mouse chromosome 11. Immunogenetics. 1993;37:157-9 pubmed