Mutation detection in the med and med(J) alleles of the sodium channel Scn8a: Unusual splicing due to a minor class AT-AC intron

Journal of Biological Chemistry

Volumn 271, Issue 29, 1996, Pages 17576-17581

  Kohrman, David C ^a   Harris, John B ^b   Meisler, Miriam H ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ANIMAL CELL; ARTICLE; EXON; INTRON; MOUSE; NERVE ENDING; NONHUMAN; OPEN READING FRAME; PRIORITY JOURNAL; RNA SPLICING; SPLICEOSOME; SPONTANEOUS MUTATION; STOP CODON; TRANSGENE;

ALLELES; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BRAIN; DNA PRIMERS; EXONS; GENES, RECESSIVE; HUMANS; INTRONS; MICE; MICE, INBRED AKR; MICE, INBRED C57BL; MICE, NEUROLOGIC MUTANTS; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; NERVE TISSUE PROTEINS; POINT MUTATION; SEQUENCE HOMOLOGY, NUCLEIC ACID; SODIUM CHANNELS; TRANSCRIPTION, GENETIC;

EID: 0030015959     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.29.17576     Document Type: Article

References (45)

1. Aebi, M., Hornig, H., Padgett, R. A., Reiser, J., and Weissmann, C. (1986) Cell 47, 555-565
2. Altschul, S. F., Gish, W., Miller, W., Myere, E. W., and Lipman, D. J. (1990) J. Mol. Biol. 215, 403-410
3. Angaut-Petit, D., McArdle, J. J., Mallart, A., Bournaud, R., Pincon-Raymond, M., and Riegers, F. (1982) Proc. R. Soc. Lond. B Biol. Sci. 215, 117-125
4. Beechy, C. V., and Searle, A. G. (1984) Mouse News Lett. 71, 28
5. Berget, S. M. (1995) J. Biol. Chem. 270, 2411-2414
6. Burgess, D. L., Kohrman, D. C., Galt, J., Plummer, N. W., Jones, J. M., Spear, B., and Meisler, M. H. (1995) Nat. Genet. 10, 461-465
7. Catterall, W. A. (1992) Physiol. Rev. 72, (Suppl.) S15-S48
8. Dick, D. J., Boakes, R. J., and Harris, J. B. (1985) Neuropathol. Appl. Neurobiol. 11, 141-147
9. Dombroski, B. A., Mathias, S. L., Nanthakumar, E., Scott, A. F., and Kazazian, H. H., Jr. (1991) Science 254, 1805-1808
10. Duchen, L. W., and Stefani, E. (1971) J. Physiol (Lond.) 212, 535-548
11. Duchen, L. W., Searle, A. G., and Strich, S. J. (1967) J. Physiol. (Lond.) 189, 4
12. Furdon, P. J., and Kole, R. (1988) Mol. Cell. Biol. 8, 860-866
13. George, A. L., Iyer, G. S., Kleinfield, R., Kallen, R. G., and Barchi, R. L. (1993) Genomics 15, 598-606
14. Goldstein, L. A., Porter, J. D., Kasarskis, E. J., and Spear, B. T. (1996) Exp. Neurol. 139, 328-334
15. Green, M. (1989) Catalog of Mutant Genes and Polymorphic Loci: Genetic Variants and Strains of the Laboratory Mouse (Lyon, M. F., and Searle, A. G., eds)2nd Ed., pp. 234-235, Oxford University Press, Oxford, U. K.
16. Green, M. R. (1991) Annu. Rev. Cell Biol. 7, 559-599
17. Hall, S. L., and Padgett, R. A. (1994) J. Mol. Biol. 239, 357-365
18. Hall, S. L., and Padgett, R. A. (1996) Science, 271, 1716-1718
19. Harris, J. B., and Pollard, S. L. (1986) J. Neurol. Sci. 76, 239-253
20. Harris J. B., and Ward, M. R. (1974) Exp. Neurol. 42, 169-180
21. Harris, J. B., Boakes, R. J., and Court, J. A. (1992) J. Neurol. Sci. 110, 186-194
22. Hille, B. (1992) Ionic Channels of Excitable Membranes, 2nd Ed., pp. 525-544, Sinauer Associates, Inc., Sunderland, MA
23. Holmes, S. E., Dombroski, B. A., Krebs, C. M., Boehm, C. D., and Kazazian, H. H., Jr. (1994) Nat. Genet. 7, 143-148
24. Hutchison, C. A., III, Hardies, S. C., Loeb, D. D., Shehee, W. R., and Edgell, M. H. (1983) Mobile Genetic Elements, pp. 593-617, Academic Press, New York
25. Jackson, I. J. (1991) Nucleic Acids Res. 19, 3795-3798
26. Kazazian, H. H., Jr., Wong, C., Youssoufian, H., Scott, A. F., Phillips, D. G., and Antonarakis, S. E. (1988) Nature 332, 164-166
27. Kingsmore, S. F., Giros, B., Suh, D., Bieniarz, M., Caron, M. G., and Seldin, M. F. (1994) Nat. Genet. 7, 136-141
28. Kohrman, D. C., Plummer, N. W., Schuster, T., Jones, J. M., Jang, W., Burgess, D. L., Galt, J., Spear, B. T., and Meisler, M. H. (1995) Genomics 26, 171-177
29. Krawczak, M., and Cooper, K. N. (1991) Hum. Genet. 86, 425-441
30. Loughney, K., Kreber, R., and Ganetzky, B. (1989) Cell 58, 1143-1154
31. McClatchey, A. I., Lin, C. S., Wang, J., Hoffman, E. F., Rojas, C., and Gusella, J. F. (1992) Hum. Mol. Genet. 1, 521-527
32. Mulhardt, C., Fischer, M., Gass, P., Simon-Chazottes, D., Guenet, J. L., Kuhse, J., Betz, H., and Becker, C. M. (1994) Neuron 13, 1003-1015
33. Nakai, K, and Sakamoto, H. (1994) Gene (Amst.) 141, 171-177
34. Narita, N., Nishio, H., Kitoh, Y., Ishikawa, Y., Ishikawa, Y., Minami, R., Nakamura, H., and Matsuo, M. (1993) J. Clin. Invest. 91, 1862-1867
35. Nelson, K. K., and Green, M. R. (1989) Genes Dev. 3, 1562-1571
36. Schaller, K. L., Krzemien, D. M., Yarowsky, P. J., Krueger, B. K., and Caldwell, J. H. (1995) J. Neurosci. 15, 3231-3242
37. Seraphin, B., Kretzner, L., and Rosbash, M. (1988) EMBO J. 7, 2533-2538
38. Shapiro, M. B., and Senapathy, P. (1987) Nucleic Acids Res. 15, 7155-7174
39. Sidman, R. L., Cowen, J. S., and Eicher, E. M. (1979) Ann. N. Y. Acad. Sci. 317, 497-505
40. Siliciano, P. G., and Guthrie, C. (1988) Genes Dev. 2, 1258-1267
41. Stephens, R. M., and Schneider, T. D. (1992) J. Mol. Biol. 228, 1124-1136
42. Tarn, W. Y., and Steitz, J. A. (1996) Cell, 84, 801-811
43. Weinstein, S. P. (1980) J. Physiol. (Lond.) 307, 453-464
44. Zacks, S. I., and Sheff, M. F. (1977) Lab. Invest. 36, 303-309
45. Zhuang, Y., and Weiner, A. M. (1986) Cell 46, 827-835