The mouse stargazer gene encodes a neuronal Ca2+-channel γ subunit

Nature Genetics

Volumn 19, Issue 4, 1998, Pages 340-347

  Letts, Verity A ^a   Felix, Ricardo ^b   Biddlecome, Gloria H ^b   Arikkath, Jyothi ^b   Mahaffey, Connie L ^a   Valenzuela, Alicia ^a   Bartlett II, Frederick S ^a   Mori, Yasuo ^c   Campbell, Kevin P ^b   Frankel, Wayne N ^a  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c NATIONAL INSTITUTE FOR PHYSIOLOGICAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL;

ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EPILEPSY; GENE EXPRESSION; MOUSE; NONHUMAN; PRIORITY JOURNAL; RECURRENT DISEASE; SPIKE WAVE; TISSUE DISTRIBUTION;

AMINO ACID SEQUENCE; ANIMALS; BRAIN CHEMISTRY; CALCIUM CHANNELS; CELL LINE; CLONING, MOLECULAR; CRICETINAE; EPILEPSY, ABSENCE; GENE EXPRESSION REGULATION; GENES; MICE; MICE, NEUROLOGIC MUTANTS; MOLECULAR SEQUENCE DATA; NEURONS; ORGAN SPECIFICITY; PATCH-CLAMP TECHNIQUES; RESTRICTION MAPPING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SYNAPTIC MEMBRANES;

ANIMALIA; MAMMALIA; RODENTIA;

EID: 17344365408     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1228     Document Type: Article

References (59)

1. Ottman, R., Hauser, W.A., Barker-Cummings, C, Lee, J.H. & Risch, N. Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results. Am. J. Hum. Genet. 60, 667-675 (1997).
2. Charlier, C. et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet. 18, 53-55 (1998).
3. Singh, N.A. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet. 18, 25-29 (1998).
4. Biervert, C. et al. A potassium channel mutation in neonatal human epilepsy. Science 279, 403-406 (1998).
5. Smart, S.L et al. Deletion of the Kv1.1 potassium channel causes epilepsy in mice. Neuron 20, 809-819 (1998).
6. Homanics, G.E. et al. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc. Natl Acad. Sci. USA 94, 4143-4148 (1997).
7. Brusa, R. et al. Early-onset epilepsy and posnatal lethality associated with an editing-deficient GluR-B allele in mice. Science 270, 1677-1680 (1995).
8. Noebels, J.L Mutational analysis of inherited epilepsies, in Basic Mechanisms of the Epilepsies: Molecular and Cellular Approaches, (eds Delgado-Escueta, A.V., Ward, A.A., Woodbury, D.M. & Porter, R.J.) 44, 97-113 (Raven Press, New York, 1986).
9. Noebels, J.L., Qiao, X., Bronson, R.T., Spencer, C. & Davisson, M.T. Stargazer: a new neurological mutant on Chromosome 15 in the mouse with prolonged cortical seizures. Epilepsy Res. 7, 129-135 (1990).
10. Cox, G.A. et al. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 91, 1-20 (1997).
11. Fletcher, CF. et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87, 607-617 (1996).
12. 2+ channel p subunit gene Ccno4 is associated with ataxia and seizures in the lethargic (Ih) mouse. Cell 88, 385-392 (1997).
13. 2+-dependent regulation in neuronal gene expression. Curr. Opin. Neurobiol. 7, 419-429 (1997).
14. Dunlap, K., Leubke, J.I. & Turner, T.J. Exocytotic calcium channels in mammalian central neurons. Trends Neurosci. 18, 89-98 (1995).
15. 2+ channel function and drug action. Trends Pharmacol. Sci. 16, 43-49 (1995).
16. 2+ channels -more than stamp collecting? Trends Pharmacol. Sci. 18, 363-371 (1997).
17. Perez-Reyes, E. et al. Molecular characterization of a neuronal low-voltage-activated T-type calcium channel. Nature 391, 896-900 (1998).
18. De Waard, M., Gurnett, C.A. & Campbell, K.P. Structural and functional diversity of voltage-activated calcium channels, in Ion Channels (ed. Narahashi, T.) 41-87 (Plenum Press, New York, 1996).
19. Jay, S.D. et al. Primary structure of the y subunit of the DHP-sensitive calcium channel from skeletal muscle. Science 248, 490-492 (1990).
20. Ludwig, A., Flockerzi, V. & Hofmann, F. Regional expression and cellular localization of the α1 and β subunit of high voltage-activated calcium channels in rat brain. J. Neurosci. 17, 1339-1349 (1997).
21. Walker, D. & De Waard, M. Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function. Trends Neurosci. 21, 148-154 (1998).
22. 2+ channels. J. Biol. Chem. 271, 3207-3212 (1996).
23. Liu, H. et al. Identification of three subunits of the high affinity ω-conotoxin MVIIC-sensitive Ca+2 channel. J. Biol. Chem. 271, 13804-13810 (1996).
24. Sweet, H.O., Bronson, R.T., Cook, S., Spencer, C. & Davisson, M.T. Research News. 1. Waggler (wag). Mouse Genome 89, 552 (1991).
25. Letts, V.A. et al. Genetic and physical maps of the Stargazer locus on mouse Chromosome 15. Genomics 43, 62-68 (1997).
26. Morgan, J.G., Dolganov, G.M., Robbins, S.E., Hinton, L.M. & Lovett, M. The selective isolation of novel cDNAs encoded by the regions surrounding the human interleukin 4 and 5 genes. Nucleic Acids Res. 20, 5173-5179 (1992).
27. Eberst, R., Dai, S., Klugbauer, N. & Hofmann, F. Identification and functional characterization of a calcium channel γ subunit. Pflügers Arch. ·Eur. J. Physiol. 433, 633-637 (1997).
28. Wissenbach, U. et al. The structure of the murine calcium channel γ-subunit gene and protein. Biol. Chem. 379, 45-50 (1998).
29. Scott, V.E.S., Felix, R., Arikkath, J. & Campbell, K.P. Evidence for a 95 kDa short form of the α1A subunit associated with the ω-Conotoxin MVIIC receptor of the P/Q-type Ca2+ channels. J. Neurosci. 18, 641-647 (1998).
30. Singer, D. et al. The roles of the subunits in the function of the calcium channel. Science 253, 1553-1557 (1991).
31. Wei, X.Y. et al. Heterologous regulation of the cardiac Ca2+channel α1 subunit by skeletal muscle βand γ subunits. Implications for the structure of cardiac L-typeCa2+ channels. J. Biol. Chem. 266, 21943-21947 (1991).
32. Lerche, H., Klugbauer, N., Lehmann-Horn, F., Hofmann, F. & Melzer, W. Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis. Pflugers Arch. - Eur. J. Physiol. 431, 461-463 (1996).
33. Niidome, T. et al. Stable expression of the neuronal BI (class A) calcium channel in baby hamster kidney cells, Biochem. Biophys. Res. Commun. 203, 1821-1827 (1994).
34. Steinmeyer, K. et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 354, 304-308 (1991).
35. Adachi, M., Watanabe-Fukunaga, R. & Nagata, S. Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of Ipr mice. Proc. Natl Acad. Sci. USA 90, 1756-1760 (1993).
36. Herrmann, B.C. & Kispert, A. The T genes in embryogenesis. Trends in Genet. 10, 280-286 (1994).
37. Moon, B.C. & Friedman, J.M. The molecular basis of the obese mutation in ob2J mice. Genomics 42, 152-156 (1997).
38. Leveque, C et al. Purification of the N-type calcium channel associated with syntaxin and synaptotagmin. A complex implicated in synaptic vesicle exocytosis. J. Biol. Chem. 271, 13804-13810 (1994).
39. Westenbroek, R.E. et al. Immunochemical identification and subcellular distribution of the α1A subunits of brain calcium channels. J. Neurosci. 15, 6403-6418 (1995).
40. Di Pasquale, E., Keegan, K.D. & Noebels, J.L Increased excitability and inward rectification in layer V cortical pyramidal neurons in the epileptic mutant mouse Stargazer. J. Neurophysiol. 77, 621-631 (1997).
41. Luthi, A. & McCormick, D.A. Periodicity of thalamic synchronized oscillations: the role of Ca2+-mediated upregulation of Ih. Neuron 20, 553-563 (1998).
42. Qiao, X., Hefti, F., Knusel, B. & Noebels, J.L. Selective failure of brain-derived neurotrophic factor mRNA expression in the cerebellum of Stargazer, a mutant mouse with ataxia. J. Neurosci. 16, 640-648 (1996).
43. Qiao, X. et al. Selective failure of TDNF/TrkB signal transduction in cerebellum associated with impairment of classical eyeblink conditioning in Stargazer mutant mice. J. Neurosci. in press, (1998).
44. Noebels, J.L. & Sidman, R.L. Inherited epilepsy: Spike-wave and focal motor seizures in the mutant mouse tottering. Science 204, 1334-1336 (1979).
45. Hosford, D.A. et al. The role of GABAB receptor activation in absence seizures of lethargic (Ih/lh) mice. Science 257, 398-401 (1992).
46. Lorenzon, N.M., Lutz, CM., Frankel, W.N. & Beam, K.G. Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J. Neurosci. 18, 4482-4489 (1998).
47. Lambert, R.C. et al. T-type Ca2+ current properties are not modified by Ca2+ channel β subunit depletion in nodosus ganglion neurons. J. Neurosci. 17, 6621-6628 (1997).
48. Segre, J.A., Nemhauser, J.L., Taylor, B.A., Nadeau, J.H. & Lander, E.S. Positional cloning of the nude locus: genetic, physical, and transcription maps of the region and mutations in the mouse and rat. Genomics 28, 549-559 (1995).
49. Taylor, B.A., Rowe, L. & Grieco, D.A. The MEV mouse linkage testing stock: mapping 30 novel proviral insertions and establishment of an improved stock. Genomics 16, 380-394 (1993).
50. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual 2nd Edition. (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 1989).
51. Harlow, E. & Lane, D. Antibodies, A Laboratory Manual. (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 1988).
52. Sharp, A.H. & Campbell, K.P. Characterization of the 1,4-dihydropyridine receptor using subunit-specific polyclonal antibodies. Evidence for a 32,000-Da subunit. J. Biol. Chem. 264, 2816-2825 (1989).
53. Jones, D.H. & Matus, A.I. Isolation of synaptic plasma membrane from brain by combined flotation-sedimentation density gradient centrifugation. Biochim. Biophys. Acta 356, 276-287 (1974).
54. Witcher, D.R., De Waard, M., Kahl, S.D. & Campbell, K.P. Purification and reconstitution of N-type calcium channel complex from rabbit brain. Meth. Enzymol. 238, 335-348 (1994).
55. Laemmli, U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227, 680-685 (1970).
56. Kingston, R.E. Introduction of DNA into mammalian cells, in Current Protocols in Molecular Biology, (eds Ausubel, F. M. et al) 9.1.1-9.1.11 (John Wiley & Sons, New York, 1997).
57. Hamill, O.P., Marty, A., Neher, E., Sakmann, B. & Sigworth, F.J. Improved patchclamp techniques for high resolution current recording from cells and cell-free membrane patches. Pflugers Arch. - Eur. J. Physiol. 391, 85-100 (1981).
58. Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389-3402 (1997).
59. Hofmann, K. & Stoffel, W. TMbase - A database of membrane spanning proteins segments. Biol. Chem. Hoppe-Seyler 347, 166 (1993).