Evolution and diversity of mammalian sodium channel genes

Genomics

Volumn 57, Issue 2, 1999, Pages 323-331

  Plummer, Nicholas W ^a   Meisler, Miriam H ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; SODIUM CHANNEL; TETRODOTOXIN; VOLTAGE GATED CHANNEL FORMING PROTEIN;

ACTION POTENTIAL; ALTERNATIVE RNA SPLICING; CHROMOSOMAL LOCALIZATION; EVOLUTION; EXON; GENE MAPPING; MEMBRANE DEPOLARIZATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYLOGENY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN SECONDARY STRUCTURE; SHORT SURVEY;

MAMMALIA;

EID: 0345034603     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5735     Document Type: Article

References (88)

1. Akopian A. N., Sivilotti L., Wood J. N. A tetrodotoxin-resistant voltage-gated sodium channel expressed by sensory neurons. Nature. 379:1996;257-262.
2. Akopian A. N., Souslova V., Sivilotti L., Wood J. N. Structure and distribution of a broadly expressed atypical sodium channel. FEBS Lett. 400:1997;183-187.
3. Anderson P. A., Holman M. A., Greenberg R. M. Deduced amino acid sequence of a putative sodium channel from the scyphozoan jellyfishCyanea capillata. Proc. Natl. Acad. Sci. USA. 90:1993;7419-7423.
4. Bailey W. J., Kim J., Wagner G. P., Ruddle F. H. Phylogenetic reconstruction of vertebrateHox. Mol. Biol. Evol. 14:1997;843-853.
5. Belcher S. M., Zerillo C. A., Levenson R., Ritchie J. M., Howe J. R. Cloning of a sodium channel alpha subunit from rabbit Schwann cells. Proc. Natl. Acad. Sci. USA. 92:1995;11034-11038.
6. Bennett P. B., Yazawa K., Makita N., George A. L. Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 376:1995;683-685.
7. Bulman D. E. Phenotype variation and newcomers in ion channel disorders. Hum. Mol. Genet. 6:1997;1679-1685.
8. Burgess D. L., Kohrman D. C., Galt J., Plummer N. W., Jones J. M., Spear B., Meisler M. H. Mutation of a new sodium channel gene,Scn8a, Nat. Genet. 10:1995;461-465.
9. Burglin T. R., Ruvkun G. TheCaenorhabditis elegans. Curr. Opin. Genet. Dev. 3:1993;615-620.
10. Cannon S. C. From mutation to myotonia in sodium channel disorders. Neuromusc. Disorders. 7:1997;241-249.
11. Cannon S. C., Hayward L. J., Beech J., Brown R. H. Jr. Sodium channel inactivation is impaired in equine hyperkalemic periodicparalysis. J. Neurophysiol. 73:1995;1892-1899.
12. Dib-Hajj S. D., Tyrrell L., Black J. A., Waxman S. G. NaN, a novel voltage-gated Na channel, is expressed preferentially in peripheral sensory neurons and down-regulated after axotomy. Proc. Natl. Acad. Sci. USA. 95:1998;8963-8968.
13. Dietrich P. S., McGivern J. G., Delgado S. G., Koch B. D., Eglen R. M., Hunter J. C., Sangameswaran L. Functional analysis of a voltage-gated sodium channel and its splice variant from rat dorsal root ganglia. J. Neurochem. 70:1998;2262-2272.
14. +. DNA Cell Biol. 16:1997;347-356.
15. Escayg A., Jones J. M., Kearney J. A., Hitchcock P. F., Meisler M. H. Calcium channel β4 (CACNB4): Human ortholog of the mouse epilepsy gene lethargic. Genomics. 50:1998;14-22.
16. Fatt P., Ginsborg B. L. The ionic requirements for the production of action potentials in crustacean muscle fibers. J. Physiol. 142:1958;516-543.
17. Felipe A., Knittle T. J., Doyle K. L., Tamkun M. M. Primary structure and differential expression during development and pregnancy of a novel voltage-gated sodium channel in the mouse. J. Biol. Chem. 269:1994;30125-30131.
18. Felts P. A., Yokoyama S., Dib-Hajj S., Black J. A., Waxman S. G. Sodium channel α-subunit mRNAs I, II, III, NaG and hNE (PN1): Different expression patterns in developing rat nervous system. Brain Res.Mol. Brain Res. 45:1997;71-82.
19. Fletcher C. F., Lutz C. M., O'Sullivan T. N., Shaughnessy J. D. Jr., Hawkes R., Frankel W. N., Copeland N. G., Jenkins N. A. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell. 87:1996;607-617.
20. Fozzard H. A., Lipkind G. The guanidinium toxin binding site on the sodium channel. Jpn. Heart J. 37:1996;683-692.
21. Frohnwieser B., Chen L. Q., Schreibmayer W., Kallen R. G. Modulation of the human cardiac sodium channel a-subunit by cAMP-dependent protein kinase and the responsible sequence domain. J. Physiol. 498:1997;309-318.
22. Garcia K. D., Sprunger L. K., Meisler M. H., Beam K. G. Postnatal developmental increase in the density of sodium currents in murine motoneurons. J. Neurosci. 18:1998;5234-5239.
23. Gautron S., Dos Santos G., Pinto-Henrique D., Koulakoff A., Gros F., Berwald-Netter Y. The glial voltage-gated sodium channel: Cell- and tissue-specific mRNA expression. Proc. Natl. Acad. Sci. USA. 89:1992;7272-7276.
24. Gellens M. E., George A. L. Jr., Chen L. Q., Chahine M., Horn R., Barchi R. L., Kallen R. G. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc. Natl. Acad. Sci. USA. 89:1992;554-558.
25. George A. L. Jr., Iyer G. S., Kleinfield R., Kallen R. G., Barchi R. L. Genomic organization of the human skeletal muscle sodium channel gene. Genomics. 15:1993;598-606.
26. George A. L. Jr., Knittle T. J., Tamkun M. M. Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: Evidence for a distinct gene family. Proc. Natl. Acad. Sci. USA. 89:1992;4893-4897.
27. George A. L. Jr., Knops J. F., Han J., Finley W. H., Knittle T. J., Tamkun M. M., Brown G. B. Assignment of a human voltage-dependent sodium channel α-subunit gene (SCN6A) to 2q21-q23. Genomics. 19:1994;395-397.
28. Goldin, A. 1999, Diversity of mammalian voltage-gated sodium channels, In, Molecular and Functional Diversity of Ion Channels and Receptors, New York Academy of Sciences.
29. Gustafson T. A., Clevinger E. C., O'Neill T. J., Yarowsky P. J., Krueger B. K. Mutually exclusive exon splicing of type III brain sodium channel alpha subunit RNA generates developmentally regulated isoforms in rat brain. J. Biol. Chem. 268:1993;18648-18653.
30. Hagiwara S., Kidokoro Y. Na and Ca components of action potential in amphioxus muscle cells. J. Physiol. 219:1971;217-232.
31. Heinemann S. H., Terlau H., Stühmer W., Imoto K., Numa S. Calcium channel characteristics conferred on the sodium channel by single mutations. Nature. 356:1992a;441-443.
32. Heinemann S. H., Terlau H., Imoto K. Molecular basis for pharmacological differences between brain and cardiac sodium channels. Pflugers Arch. 422:1992b;90-92.
33. Hille B. Ion Channels of Excitable Membranes. 1992;Sinauer Associates, Sunderland.
34. Holland P. W. H., Garcia-Fernàndez J., Williams N. A., Sidow A. Gene duplications and the origins of vertebrate development. Development Suppl. 1994;125-133.
35. Isom L. L., De Jongh K. S., Catterall W. A. Auxiliary subunits of voltage-gated ion channels. Neuron. 12:1994;1183-1194.
36. Isom L. L., De Jongh K. S., Patton D. E., Reber B. F., Offord J., Charbonneau H., Walsh K., Goldin A. L., Catterall W. A. Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel. Science. 256:1992;839-842.
37. Isom L. L., Ragsdale D. S., De Jongh K. S., Westenbroek R. E., Reber B. F. X., Scheuer T., Catterall W. A. Structure and function of the β2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif. Cell. 83:1995;433-442.
38. Jones J. M., Meisler M. H., Isom L. L. Scn2b, Genomics. 34:1996;258-259.
39. Kenyon C., Wang B. A cluster ofAntennapedia. Science. 253:1991;516-517.
40. Kohrman D. C., Smith M. R., Goldin A. L., Harris J., Meisler M. H. A missense mutation in the sodium channelScn8ajolting. J. Neurosci. 16:1996;5993-5999.
41. Kontis K. J., Goldin A. L. Site-directed mutagenesis of the putative pore region of the rat IIA sodium channel. Mol. Pharmacol. 43:1993;635-644.
42. Loughney K., Kreber R., Ganetzky B. Molecular analysis of theparaDrosophila. Cell. 58:1989;1143-1154.
43. Lundin L. G. Evolution of the vertebrate genome as reflected in paralogous chromosomal regions in man and the house mouse. Genomics. 16:1993;1-19.
44. Makalowski W., Zhang J., Boguski M. S. Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences. Genome Res. 6:1996;846-857.
45. Makita N., Sloan-Brown K., Weghuis D. O., Ropers H. H., George A. L. Jr. Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel β-1 subunit gene (SCN1B. Genomics. 23:1994;628-634.
46. Marban E., Yamagishi T., Tomaselli G. F. Structure and function of voltage-gated sodium channels. J. Physiol. 508:1998;647-657.
47. McClatchey A. I., Cannon S. C., Slaugenhaupt S. A., Gusella J. F. The cloning and expression of a sodium channel β1-subunit cDNA from human brain. Hum. Mol. Genet. 2:1993;745-749.
48. McClatchey A. I., Lin C. S., Wang J., Hoffman E. P., Rojas C., Gusella J. F. The genomic structure of the human skeletal muscle sodium channel gene. Hum. Mol. Genet. 1:1992;521-527.
49. +. J. Biol. Chem. 273:1998;3954-3962.
50. Meisler M. H., Sprunger L. K., Plummer N. W., Escayg A., Jones J. M. Ion channel mutations in mouse models of inherited neurological disease. Ann. Med. 29:1997;569-574.
51. Messner D. J., Catterall W. A. The sodium channel from rat brain: Separation and characterization of subunits. J. Biol. Chem. 260:1985;10597-10604.
52. Murphy B. J., Rogers J., Perdichizzi A. P., Colvin A. A., Catterall W. A. cAMP-dependent phosphorylation of two sites in the alpha subunit of the cardiac sodium channel. J. Biol. Chem. 271:1996;28837-28843.
53. Noda M., Shimizu S., Tanabe T., Takai T., Kayano T., Ikeda T., Takahashi H., Nakayama H., Kanoaka Y., Minamino N., Kangawa K., Matsuo H., Raftery M. A., Hirose T., Inayama S., Hayashida H., Miyata T., Numa S. Primary structure ofElectrophorus electricus. Nature. 312:1984;121-127.
54. Oh Y., Waxman S. G. Novel splice variation of the sodium channel alpha subunit. NeuroReport. 9:1998;1267-1272.
55. Okamura Y., Ono F., Okagaki R., Chong J. A., Mandel G. Neural expression of a sodium channel gene requires cell-specific interactions. Neuron. 13:1994;937-948.
56. Patton D. E., Isom L. L., Catterall W. A., Goldin A. L. The adult brain β1 subunit modifies activation and inactivation gating of multiple sodium channel α subunits. J. Biol. Chem. 269:1994;17649-17655.
57. Plummer N. W., Galt J., Jones J. M., Burgess D. L., Sprunger L. K., Kohrman D. C., Meisler M. H. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel geneSCN8A. Genomics. 54:1998;287-296.
58. Plummer N. W., McBurney M. W., Meisler M. H. Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. J. Biol. Chem. 272:1997;24008-24015.
59. Potts J. F., Regan M. R., Rochelle J. M., Seldin M. F., Agnew W. S. A glial-specific voltage-sensitive Na channel gene maps close to clustered genes for neuronal isoforms on mouse chromosome 2. Biochem. Biophys. Res. Commun. 30:1993;100-104.
60. Ptacek L. J., George A. L. Jr., Griggs R. C., Tawil R., Kallen R. G., Barchi R. L., Robertson M., Leppert M. F. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 67:1991;1021-1027.
61. +Xenopus. J. Biol. Chem. 270:1995;25696-25701.
62. Ragsdale D. S., Avoli M. Sodium channels as molecular targets for antiepileptic drugs. Brain Res. Brain Res. Rev. 26:1998;16-28.
63. Raman I. M., Sprunger L. K., Meisler M. H., Bean B. P. Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons ofScn8a. Neuron. 19:1997;881-891.
64. +. Nature. 354:1991;387-389.
65. Ruddle F. H., Bartels J. L., Bentley K. L., Kappen C., Murtha M. T., Pendleton J. W. Evolution ofHOX. Annu. Rev. Genet. 28:1994;423-442.
66. Rudolph J. A., Spier S. J., Byrns G., Rojas C. V., Bernoco D., Hoffman E. P. Periodic paralysis in quarterhorses: A sodium channel mutation disseminated by selective breeding. Nat. Genet. 2:1992;144-147.
67. Sangameswaran L., Delgado S. G., Fish L. M., Koch B. D., Jakeman L. B., Stewart G. R., Sze P., Hunter J. C., Eglen R. M., Herman R. C. Structure and function of a novel voltage-gated, tetrodotoxin resistant sodium channel specific for sensory neurons. J. Biol. Chem. 271:1996;5953-5956.
68. Sarao R., Gupta S. K., Auld V. J., Dunn R. J. Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. Nucleic Acids Res. 19:1991;5673-5679.
69. Sato C., Matsumoto G. Primary structure of squid sodium channel deduced from the complementary DNA sequence. Biochem. Biophys. Res. Commun. 186:1992;61-68.
70. Schaller K. L., Krzemien D. M., McKenna N. M., Caldwell J. H. Alternatively spliced sodium channel transcripts in brain and muscle. J. Neurosci. 12:1992;1370-1381.
71. Smith R. D., Goldin A. L. Phosphorylation of brain sodium channels in the I-II linker modulates channel function inXenopus. J. Neurosci. 16:1996;1965-1974.
72. Smith M. R., Smith R. D., Plummer N. W., Meisler M. H., Goldin A. L. Functional analysis of the mouse Scn8a sodium channel. J. Neurosci. 18:1998;6093-6102.
73. Souslova V. A., Fox M., Wood J. N., Akopian A. N. Cloning and characterization of a mouse sensory neuron tetrodotoxin-resistant voltage-gated sodium channel geneScn10a. Genomics. 41:1997;201-209.
74. Spafford J. D., Spencer A. N., Gallin W. J. A putative voltage-gated sodium channel alpha subunit (PpSCN1) from the hydrozoan jellyfish,Polyorchis penicillatus: Biochem. Biophys. Res. Commun. 244:1998;722-780.
75. Sprunger L. K., Escayg A., Tallaksen-Greene S., Albin R. L., Meisler M. H. Generalized dystonia associated with mutation of the neuronal sodium channelScn8a:Scnm1. Hum. Mol. Genet. 1998.
76. Suzuki N., Kano M. Development of action potential in larval muscle fibers inDrosophila melanogaster. J. Cell. Physiol. 93:1977;383-388.
77. Tate S., Benn S., Hick C., Trezise D., John V., Manion R. J., Costigan M., Plumpton C., Grose D., Gladwell Z., Kendall G., Dale K., Bountra C., Woolf C. J. Two sodium channels contribute to the TTX-R sodium current in primary sensory neurons. Nat. Neurosci. 1:1998;653-655.
78. Taylor C. P., Narasimhan L. S. Sodium channels and therapy of central nervous system diseases. Adv. Pharmacol. 39:1997;47-98.
79. Thompson J. D., Higgins D. G., Gibson T. J. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22:1994;4673-4680.
80. Toledo-Aral J. J., Moss B. L., He Z-J., Koszowski A. G., Whisenand T., Levinson S. R., Wolf J. J., Silos-Santiago I., Halegoua S., Mandel G. Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. Proc. Natl. Acad. Sci. USA. 94:1997;1527-1532.
81. Tseng-Crank J., Pollack J. A., Hayashi I., Tanouye M. A. Expression of ion channel genes inDrosophila. J. Neurogenet. 7:1991;229-239.
82. +SCN1B. Nat. Genet. 19:1998;366-370.
83. +. Proc. Natl. Acad. Sci. USA. 93:1996a;13200-13205.
84. Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J. L., Moss A. J., Towbin J. A., Keating M. T. SCN5A mutations associated with an inherited cardiac arrhythmia, Long QT syndrome. Cell. 80:1995;805-811.
85. Wang Q., Li Z., Shen J., Keating M. T. Genomic organization of the humanSCN5A. Genomics. 34:1996b;9-16.
86. +. Neuron. 3:1989;695-704.
87. Wollner D. A., Messner D. J., Catterall W. A. β2 subunits of sodium channels from vertebrate brain: Studies with subunit-specific antibodies. J. Biol. Chem. 262:1987;14709-14715.
88. Yang J. S., Bennett P. B., Makita N., George A. L., Barchi R. L. Expression of the sodium channel β1 subunit in rat skeletal muscle is selectively associated with the tetrodotoxin α subunit isoform. Neuron. 11:1993;915-922.