Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

Proceedings of the National Academy of Sciences of the United States of America

Volumn 94, Issue 18, 1997, Pages 9920-9925

  Schrank, Bertold ^a   Götz, Rudolf ^a   Gunnersen, Jennifer M ^a   Ure, Janice M ^b   Toyka, Klaus V ^a   Smith, Austin G ^b   Sendtner, Michael ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ANIMAL CELL; ANIMAL EXPERIMENT; APOPTOSIS; ARTICLE; CELL DEATH; CELL SURVIVAL; CHROMOSOME 5Q; EMBRYO; EMBRYO DEVELOPMENT; GENE EXPRESSION; GENE TARGETING; GENOME; HETEROZYGOTE; HYPOTHESIS; IMMUNOHISTOCHEMISTRY; MAMMAL; MOLECULAR CLONING; MOTONEURON; MOUSE; NEUROMUSCULAR DISEASE; NONHUMAN; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; STRUCTURE ACTIVITY RELATION;

AMINO ACID SEQUENCE; ANIMALS; CELL DEATH; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EMBRYONIC AND FETAL DEVELOPMENT; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS;

ANIMALIA; MAMMALIA;

EID: 0030931720     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.94.18.9920     Document Type: Article

References (34)

1. Dubowitz, V. (1995) Muscle Disorders in Childhood (Saunders, London), pp. 325-369.
2. Pearn, J. H. (1980) Lancet i, 919-922.
3. Crawford, T. O. (1996) Neurology 46, 335-340.
4. Munsat, T. L. (1991) Neuromuscular Disorders 1, 81.
5. Zerres, K. & Rudnik-Schöneborn, S. (1995) Arch. Neurol. 52, 518-523
6. Brzustowicz, L. M., Lehner, T., Castilla, L. H., Penchaszadeh, G. K., Wilhelmsen, K. C., Daniels, R., Davies, K. E., Leppert, M., Ziter, F., Wood, D., Dubowitz, V., Zerres K., Hausmanowa-Petrusewicz, I., Ott, J., Munsat, T. L. & Gilliam, T. C. (1990) Nature (London) 344, 540-541.
7. Melki, J., Abdelhak, S., Sheth, P., Bachelot, M. F., Burlet, P., et al. (1990) Nature (London) 344, 767-768.
8. Gilliam, T. C., Brzustowicz, L. M., Castilla, L. H., Lehner, T., Penchaszadeh, G. K., Daniels, R. J., Byth, B. C., Knowles J., Hislop, J. E., Shapira, Y., Dubowitz, V., Munsat, T. L., Ott, J. & Davies, K. E. (1990) Nature (London) 345, 823-825.
9. Melki, J., Sheth, P., Abdelhak, S., Burlet, P., Bachelot, M. F., Lathrop, M., Frézal, J., Munnich, A. & the French Spinal Muscular Atrophy Investigators (1990) Lancet 336, 271-273
10. Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A. & Melki, J. (1995) Cell 80, 155-165.
11. Roy, N., Mahadevan, M. S., Mclean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnson, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T. O., de Jong, P., Surh, L., Ikeda, J., Korneluk, R. G. & Mackenzie, A. (1995) Cell 80, 167-178.
12. Thompson, T. G., DiDonato, C. J., Simard, L. R., Ingraham, S. E., Burghes, A. H. M., Crawford, T. O., Rochette, C., Mendell, J. R. & Wasmuth, J. J. (1995) Nat. Genet. 9, 56-62.
13. Mahadevan, M. S., Korneluk, R. G., Roy, N., MacKenzie, A. & Ikeda, J.-E (1995) Nat. Genet. 9, 112-113.
14. Lewin, B. (1995) Cell 80, 1-5.
15. Liston, P., Roy, N., Tamai, K., Lefebvre, C., Baird, S., Cherton-Horvat, G., Farahani, R., McLean, M., Ikeda, J., MacKenzie, A. & Korneluk, R. (1996) Nature (London) 375, 349-353.
16. Cobben, J. M., van der Steege, G., Grootscholten, P., de Visser, M., Scheffer, H. & Buys, C. H. C. M. (1995) Am. J. Hum. Genet. 57, 805-808.
17. Velasco, E., Valero, C., Valero, A., Moreno, F. & Hernández-Chico, C. (1996) Hum. Mol. Genet. 5, 257-263.
18. Capon, F., Levato, C., Semprini, S., Pizzuti, A., Merlini, L., Novelli, G. & Dallapiccola, B. (1996) Muscle Nerve 19, 378-380.
19. Rodrigues, N. R., Owen, N., Talbot, K., Ignatius, J., Dubowitz, V. & Davies, K. E. (1995) Hum. Mol. Genet. 4, 631-634.
20. Hahnen, E., Forkert, R., Marke, C., Rudnik-Schöneborn, S., Schonling, J., Zerres. K. & Wirth, B. (1995) Hum. Mol. Genet. 4, 1927-1933.
21. Wang, C. H., Xu, J., Carter, T., Ross, B. M., Dorniniski, M. K., Bellcross, C. A., Penchaszadeh, G. K., Munsat, T. L. & Gilliam, T. C. (1996) Hum. Mol. Genet. 5, 359-365.
22. Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Bürglen, L., Cruaud, C., Urtizberea, J. A., Colomer, J., Munnich, A., Baiget, M. & Melki, J. (1995) Nat. Genet. 11, 335-337.
23. Liu, Q. & Dreyfuss, G. (1996) EMBO J. 15, 3555-3565.
24. Nehls, M., Messerle, M., Sirulnik, A., Smith, A. J. & Boehm, T. (1994) BioTechniques 17, 770-775.
25. Le Mouellic, H., Lallemand, Y. & Brület, P. (1990) Proc. Natl. Acad. Sci. USA 87, 4712-4716.
26. Smith, A. G. (1991) J. Tissue Culture Methods 13, 89-94.
27. Vernet, M., Bonnerot, C., Brian, P. & Nicolas, J.-F. (1993) Methods Enzymol. 225, 434-451.
28. Sambrook, J., Fritsch, E. F. & Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Lab. Press, Plainview, NY).
29. Sanes, J., Rubenstein, J. R. L. & Nicolas, J.-F. (1986) EMBO J. 5, 3133-3142.
30. Masu, Y., Wolf, E., Holtmann, B., Sendtner, M., Brem, G. & Thoenen, H. (1993) Nature (London) 365, 27-32.
31. Schuler, G. D., Altschul, S. F. & Lipman, D. J. (1991) Proteins 9, 180-190.
32. Gennarelli, M., Lucarelli, M., Capon, F., Pizzuti, A., Merlini, L., Angelini, C., Novelli, G. & Dallapiccola, B. (1995) Biochem. Biophys. Res. Commun. 213, 342-348.
33. Hogan, B., Beddington, R., Costantini, F. & Lacy, E. (1994) Manipulating the Mouse Embryo (Cold Spring Harbor Lab. Press, Plainview, NY), pp. 41-56.
34. El-Shershaby, A. M. & Hinchcliffe, J. R. (1974) J. Embryol. Exp. Morphol. 31, 643-654.