Chrng

Summary

Gene Symbol: Chrng
Description: cholinergic receptor, nicotinic, gamma polypeptide
Alias: Achr-3, Acrg, acetylcholine receptor subunit gamma, chrng variant N1, chrng variant N2, nicotinic acetylcholine receptor gamma subunit
Species: mouse
Products:     Chrng

Top Publications

  1. Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert R, et al. Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning. Development. 2008;135:1957-67 pubmed publisher
    ..These results demonstrate that the gamma-subunit is required for the formation of pre-patterned AChR clusters, which in turn play an essential role in determining the subsequent pattern of neuromuscular synaptogenesis. ..
  2. Yampolsky P, Gensler S, McArdle J, Witzemann V. AChR channel conversion and AChR-adjusted neuronal survival during embryonic development. Mol Cell Neurosci. 2008;37:634-45 pubmed publisher
  3. Koenen M, Peter C, Villarroel A, Witzemann V, Sakmann B. Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle. EMBO Rep. 2005;6:570-6 pubmed
    ..We suggest that one function of the fetal type of AChR is to ensure an orderly innervation pattern of skeletal muscle. ..
  4. Voss G, Botteri F, Monard D, Jockusch H. Localization of protease nexin-1 gene Spi4 between villin and acetylcholine receptor gamma genes on mouse Chromosome 1. Mamm Genome. 1996;7:167-8 pubmed
  5. Copeland N, Gilbert D, Li K, Sawamura D, Giudice G, Chu M, et al. Chromosomal localization of mouse bullous pemphigoid antigens. BPAG1 and BPAG2: identification of a new region of homology between mouse and human chromosomes. Genomics. 1993;15:180-1 pubmed
    ..Bpag-2 mapped to the distal end of mouse chromosome 19 in a region of homology to human chromosome 10q. These assignments confirm and extend the relationships between the human and the mouse chromosomes. ..
  6. 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. ..
  7. Love J, Knight A, McAleer M, Todd J. Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatellites. Nucleic Acids Res. 1990;18:4123-30 pubmed
    ..This simple approach is extremely useful in linkage and genome mapping studies and will facilitate construction of high resolution maps of both the mouse and human genomes. ..
  8. Patapoutian A, Yoon J, Miner J, Wang S, Stark K, Wold B. Disruption of the mouse MRF4 gene identifies multiple waves of myogenesis in the myotome. Development. 1995;121:3347-58 pubmed
    ..Finally, a later and relatively mild phenotype was detected in intercostal muscles of newborn animals. ..
  9. Yu X, Hall Z. Amino- and carboxyl-terminal domains specify the identity of the delta subunit in assembly of the mouse muscle nicotinic acetylcholine receptor. Mol Pharmacol. 1994;46:964-9 pubmed
    ..These results show that, as with the epsilon subunit, the identity of the delta subunit in AChR assembly arises from the extracytoplasmic domains of the subunit. ..

More Information

Publications73

  1. Yumoto N, Wakatsuki S, Sehara Fujisawa A. The acetylcholine receptor gamma-to-epsilon switch occurs in individual endplates. Biochem Biophys Res Commun. 2005;331:1522-7 pubmed
    ..This finding will help our understanding of the mechanisms of the gamma-to-epsilon switch during establishment of the neuromuscular junction. ..
  2. Huang H, Acuff C, Steinhelper M. Isolation, mapping, and regulated expression of the gene encoding mouse C-type natriuretic peptide. Am J Physiol. 1996;271:H1565-75 pubmed
    ..Correlations between CNP expression and uterine fluid content suggest that CNP may regulate uterine fluid balance in mice and other mammals...
  3. 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. ..
  4. Mock B, Krall M, Dosik J. Genetic mapping of tumor susceptibility genes involved in mouse plasmacytomagenesis. Proc Natl Acad Sci U S A. 1993;90:9499-503 pubmed
  5. Malo D, Schurr E, Epstein D, Vekemans M, Skamene E, Gros P. The host resistance locus Bcg is tightly linked to a group of cytoskeleton-associated protein genes that include villin and desmin. Genomics. 1991;10:356-64 pubmed
    ..assigned to that portion of mouse chromosome 1 and was found to be centromere-Fn-1-Tp-1-(Vil,Bcg)-Des-Inha-Akp-3-Acrg+ ++-Sag. Two of these new marker genes were found very tightly linked to Bcg: Des was located 0.3 +/- 0...
  6. 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. ..
  7. Okuizumi H, Okazaki Y, Ohsumi T, Hayashizaki Y, Plass C, Chapman V. Genetic mapping of restriction landmark genomic scanning loci in the mouse. Electrophoresis. 1995;16:233-40 pubmed
    ..In this paper, we summarize the progress that has been made in the practical application of the RLGS method to genetic analysis using congenic strains, recombinant inbred (RI) strains, and in interspecific backcrosses of mice. ..
  8. Miles J, Moss J, Taylor B, Burchell B, Wolf C. Mapping genes encoding drug-metabolizing enzymes in recombinant inbred mice. Genomics. 1991;11:309-16 pubmed
    ..pi genes were mapped to the distal end of chromosome 1 near Pmv-21; one UDPGT-K39 variant to chromosome 1, between Acrg and Emv-17, and another showed linkage to Odc-10 on an unidentified chromosome...
  9. Sigoillot S, Bourgeois F, Karmouch J, Molgó J, Dobbertin A, Chevalier C, et al. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. FASEB J. 2016;30:2382-99 pubmed publisher
    ..Chevalier, C., Houlgatte, R., Léger, J., Legay, C. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. ..
  10. Schurr E, Skamene E, Morgan K, Chu M, Gros P. Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics. 1990;8:477-86 pubmed
    ..Ren-1,2 and Acrg were included as two proximal mouse chromosome 1 anchor loci...
  11. Koike S, Schaeffer L, Changeux J. Identification of a DNA element determining synaptic expression of the mouse acetylcholine receptor delta-subunit gene. Proc Natl Acad Sci U S A. 1995;92:10624-8 pubmed
  12. Vidal S, Epstein D, Malo D, Weith A, Vekemans M, Gros P. Identification and mapping of six microdissected genomic DNA probes to the proximal region of mouse chromosome 1. Genomics. 1992;14:32-7 pubmed
    ..8 cM-lambda Mm1C-165/Vil-0.4 cM-Inha-2.8 cM-lambda Mm1C-153-2.4 cM-lambda Mm1C-156-1.2 cM-Pax-3-5.6 cM-Akp-3-0.8 cM-Acrg-2.0 cM-Sag-0.5 cM-Col6a3-1.8 cM-lambda Mm1C-150-15.4 cM-Ren1,2...
  13. Dosik J, Barton C, Holiday D, Krall M, Blackwell J, Mock B. An Nramp-related sequence maps to mouse chromosome 17. Mamm Genome. 1994;5:458-60 pubmed
  14. Drouet B, Garcia L, Simon Chazottes D, Mattei M, Guenet J, Schwartz A, et al. The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32. Mamm Genome. 1993;4:499-503 pubmed
    ..On the basis of single-strand conformation polymorphism (SSCP-PCR) analysis in an interspecific backcross, we have determined that the Cchl1a3 = mdg (muscular dysgenesis) locus is very closely linked to the myogenin (Myog) locus. ..
  15. Azim S, Banday A, Sarwar T, Tabish M. Alternatively spliced variants of gamma-subunit of muscle-type acetylcholine receptor in fetal and adult skeletal muscle of mouse. Cell Mol Neurobiol. 2012;32:957-63 pubmed publisher
    Gamma-subunit of nicotinic acetylcholine receptor is encoded by chrng gene of mouse. This gene is located on chromosome 1, spans 6.5 kb, and contains 12 exons and 11 introns...
  16. Coleman M, Eisen J, Mohrenweiser H. Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse. Genomics. 2000;65:274-82 pubmed
    ..2q34-q36, and the mouse gene is localized to the syntenic region of chromosome 1 (between markers Gls and Acrg)...
  17. Ivakine E, Fox C, Paterson A, Mortin Toth S, Canty A, Walton D, et al. Sex-specific effect of insulin-dependent diabetes 4 on regulation of diabetes pathogenesis in the nonobese diabetic mouse. J Immunol. 2005;174:7129-40 pubmed
    ..Additional studies will be required to address the question of whether a sex-specific effect of Idd4, observed in this study, is also present in the spontaneous model of the disease with striking female bias. ..
  18. Cerretti D, Nelson N, Kozlosky C, Morrissey P, Copeland N, Gilbert D, et al. The murine homologue of the human interleukin-8 receptor type B maps near the Ity-Lsh-Bcg disease resistance locus. Genomics. 1993;18:410-3 pubmed
    ..9 +/- 2.7--Lsh-Ity-Bcg--1.9 +/- 1.4--Il8rb--1.9 +/- 1.4--Vil-- 5.9 +/- 2.3--Acrg--2.9 +/- 1.7--Bcl-2.
  19. Marigo V, Roberts D, Lee S, Tsukurov O, Levi T, Gastier J, et al. Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. Genomics. 1995;28:44-51 pubmed
    ..Shh mapped to a position 0.6 cM distal to En2 and 1.9 cM proximal to Il6 on mouse chromosome 5. This location is closely linked but distinct from the murine limb mutation Hx and syntenic to human chromosome 7q36. ..
  20. 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. ..
  21. Yu L, LaPolla R, Davidson N. Mouse muscle nicotinic acetylcholine receptor gamma subunit: cDNA sequence and gene expression. Nucleic Acids Res. 1986;14:3539-55 pubmed
    ..One cDNA clone was found to correspond to a partially processed nuclear transcript containing two as yet unspliced intervening sequences. ..
  22. Ogawa Y, Itoh H, Yoshitake Y, Inoue M, Yoshimasa T, Serikawa T, et al. Molecular cloning and chromosomal assignment of the mouse C-type natriuretic peptide (CNP) gene (Nppc): comparison with the human CNP gene (NPPC). Genomics. 1994;24:383-7 pubmed
    ..Using somatic hybrid cell methodology, the CNP gene (NPPC) was assigned to human chromosome 2. The present study has added another locus to the conserved syntenic group in mice and humans. ..
  23. Hulsebos T, Cerosaletti K, Fournier R, Sinke R, Rocchi M, Marzella R, et al. Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1. Genomics. 1995;28:543-8 pubmed
    ..Finally, we demonstrate that in both species the beta A2 crystallin gene is linked but separable from the gamma A crystallin gene. The beta A2 crystallin gene is a candidate gene for human and mouse hereditary cataract. ..
  24. 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. ..
  25. Takahashi M, Kubo T, Mizoguchi A, Carlson C, Endo K, Ohnishi K. Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors. EMBO Rep. 2002;3:674-81 pubmed
    ..Results suggest a requirement for gamma-AChRs in mediating synaptically-induced action potential activity critical for neuromuscular development. ..
  26. Nayak T, Auerbach A. Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic response. Proc Natl Acad Sci U S A. 2013;110:13654-9 pubmed publisher
    ..End plate current simulations suggest that the higher affinity and increased energy from ?-? are essential for generating synaptic responses at low pulse [ACh]. ..
  27. Pacifici P, Peter C, Yampolsky P, Koenen M, McArdle J, Witzemann V. Novel mouse model reveals distinct activity-dependent and -independent contributions to synapse development. PLoS ONE. 2011;6:e16469 pubmed publisher
  28. 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. ..
  29. 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. ..
  30. 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. ..
  31. Boulter J, Evans K, Martin G, Mason P, Stengelin S, Goldman D, et al. Isolation and sequence of cDNA clones coding for the precursor to the gamma subunit of mouse muscle nicotinic acetylcholine receptor. J Neurosci Res. 1986;16:37-49 pubmed
    ..gamma Subunit-coding RNA species are considerably more abundant in denervated than in innervated muscle, suggesting that neural regulation of the abundance of the gamma subunit is exerted through regulation of the amount of its mRNA. ..
  32. 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. ..
  33. 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. ..
  34. Davids M, Crawford E, Weremowicz S, Morton C, Copeland N, Gilbert D, et al. STK25 is a candidate gene for pseudopseudohypoparathyroidism. Genomics. 2001;77:2-4 pubmed
    ..We mapped Stk25 to the central region of mouse chromosome 1 linked to Chrng (formerly Acrg) and En1...
  35. 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. ..
  36. Piette J, Huchet M, Houzelstein D, Changeux J. Compartmentalized expression of the alpha- and gamma-subunits of the acetylcholine receptor in recently fused myofibers. Dev Biol. 1993;157:205-13 pubmed
    ..This has important implications for the understanding of the molecular mechanisms of neuromuscular junction formation. ..
  37. Mileo A, Monaco L, Palma E, Grassi F, Miledi R, Eusebi F. Two forms of acetylcholine receptor gamma subunit in mouse muscle. Proc Natl Acad Sci U S A. 1995;92:2686-90 pubmed
    ..The gamma s subunit may, thus, contribute to the structural and functional diversity of nAcChoRs in muscle cells. ..
  38. Mock B, Seldin M. A comparison of genetic linkage maps surrounding the Lsh/Ity/Bcg disease resistance locus. Res Immunol. 1989;140:769-74 pubmed
  39. 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. ..
  40. Yampolsky P, Pacifici P, Witzemann V. Differential muscle-driven synaptic remodeling in the neuromuscular junction after denervation. Eur J Neurosci. 2010;31:646-58 pubmed publisher
    ..Therefore, we were able to model the changes in the total receptor load of the neuromuscular endplate following denervation as a function of the abundance of available receptors and the initial receptor load of the endplate. ..
  41. Epstein D, Malo D, Vekemans M, Gros P. Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1. Genomics. 1991;10:89-93 pubmed
    ..The closest distal marker to the deletion is the Acrg gene, with the distal deletion breakpoint mapping within the 0.8-cM segment separating Akp-3 and Acrg...
  42. 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
  43. Scheffer D, Sage C, Plazas P, Huang M, Wedemeyer C, Zhang D, et al. The ?1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the ? subunit in hair cells. J Neurochem. 2007;103:2651-64 pubmed publisher
    ..In this study, we identify two novel nAChR subunits in the inner ear: ?1 and ?, encoded by Chrna1 and Chrng, respectively...
  44. Epstein D, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell. 1991;67:767-74 pubmed
    ..Our study provides evidence for a causal link between deletion of the paired homeodomain of Pax-3 and the Sp2H mutation, and infers that Pax-3 plays a key role in normal neural development. ..
  45. 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. ..
  46. Ryten M, Koshi R, Knight G, Turmaine M, Dunn P, Cockayne D, et al. Abnormalities in neuromuscular junction structure and skeletal muscle function in mice lacking the P2X2 nucleotide receptor. Neuroscience. 2007;148:700-11 pubmed
    ..These findings demonstrate a role for P2X2 receptor-mediated signaling in NMJ formation and suggest that purinergic signaling may play an as yet largely unrecognized part in synapse formation. ..
  47. 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. ..
  48. 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. ..
  49. Hoffmann K, Muller J, Stricker S, Megarbane A, Rajab A, Lindner T, et al. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet. 2006;79:303-12 pubmed
    ..linkage studies in families with Escobar syndrome and identified eight mutations within the gamma -subunit gene (CHRNG) of the AChR...
  50. 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...
  51. 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
  52. 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. ..
  53. Blizard D, Lionikas A, Vandenbergh D, Vasilopoulos T, Gerhard G, Griffith J, et al. Blood pressure and heart rate QTL in mice of the B6/D2 lineage: sex differences and environmental influences. Physiol Genomics. 2009;36:158-66 pubmed publisher
    ..Evidence for a role for mitochondrial DNA was found for both HR and SBP. QTL for HR and SBP may differ in males and females and may be sensitive to different environmental contexts. ..
  54. Copeland N, Silan C, Kingsley D, Jenkins N, Cannizzaro L, Croce C, et al. Chromosomal location of murine and human IL-1 receptor genes. Genomics. 1991;9:44-50 pubmed
    ..The murine Il-1r1 gene has thus been separated from the IL-1 genes, which lie on murine chromosome 2. ..
  55. Anderson D, Cannavino J, Li H, Anderson K, Nelson B, McAnally J, et al. Severe muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106. Proc Natl Acad Sci U S A. 2016;113:E4494-503 pubmed publisher
    ..These findings reveal a central role for Zfp106 in the maintenance of nerve-muscle signaling, and highlight the involvement of aberrant RNA processing in neuromuscular disease pathogenesis. ..
  56. Gardner P, Heinemann S, Patrick J. Transcriptional regulation of nicotinic acetylcholine receptor genes: identification of control elements of a gamma-subunit gene. Brain Res. 1987;427:69-76 pubmed
    ..We propose that this fragment contains transcriptional control elements of the mouse muscle acetylcholine receptor gamma-subunit gene. ..
  57. 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
    ..Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome...
  58. Goldsborough A, Healy L, Copeland N, Gilbert D, Jenkins N, Willison K, et al. Cloning, chromosomal localization and expression pattern of the POU domain gene Oct-11. Nucleic Acids Res. 1993;21:127-34 pubmed
    ..1. We describe the structure of Oct-11 and its chromosomal localization, and discuss the evidence that the POU class II gene family has evolved by duplication and divergence of a common ancestral gene. ..
  59. Schurr E, Skamene E, Forget A, Gros P. Linkage analysis of the Bcg gene on mouse chromosome 1. Identification of a tightly linked marker. J Immunol. 1989;142:4507-13 pubmed
    ..Our results suggest that a likely location for a putative human homologue to the murine host resistance gene Bcg is the long arm of human chromosome 2 (2q32-qter). ..
  60. 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. ..
  61. Duclert A, Changeux J. Acetylcholine receptor gene expression at the developing neuromuscular junction. Physiol Rev. 1995;75:339-68 pubmed
  62. 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. ..
  63. Weichenhan D, Kunze B, Traut W, Winking H. Restoration of the Mendelian transmission ratio by a deletion in the mouse chromosome 1 HSR. Genet Res. 1998;71:119-25 pubmed
    ..Hence, both properties--transmission ratio distortion and compensating capability--map to the deleted region. The deletion comprises three-quarters of the MUT HSR and does not extend to the nearest markers adjacent to the HSR. ..
  64. Traut W, Seldin M, Winking H. Genetic mapping and assignment of a long-range repeat cluster to band D of chromosome 1 in Mus musculus and M. spretus. Cytogenet Cell Genet. 1992;60:128-30 pubmed
    ..D1Lub1 was inseparable in 114 meiotic events from Acrg, Sag, and Akp-3...