Molecular characterization of the protein products of the fragile X syndrome gene and the survival of motor neurons gene

Cold Spring Harbor Symposia on Quantitative Biology

Volumn 61, Issue , 1996, Pages 689-697

  Liu, Q ^a   Siomi, H ^a   Siomi, M C ^a   Fischer, U ^a   Zhang, Y ^a   Wan, L ^a   Dreyfuss, G ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MESSENGER RNA; MESSENGER RNA PRECURSOR; RNA BINDING PROTEIN;

ANIMAL CELL; CHROMOSOME XP; CONFERENCE PAPER; FRAGILE X SYNDROME; MENTAL DEFICIENCY; MOLECULAR CLONING; MOTONEURON; MOUSE; NONHUMAN; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRANSCRIPTION REGULATION; ARTICLE; GENE; HUMAN; SURVIVAL;

ANIMALIA;

EID: 0030436491     PISSN: 00917451     EISSN: None     Source Type: Book Series    
DOI: 10.1101/sqb.1996.061.01.069     Document Type: Conference Paper

References (56)

1. Abitbol, M., I.C. Menin, A.L. Delezoide, T. Rhyner, M. Vekemans, and J. Mallet. 1993. Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nat. Genet. 4: 147.
2. Ashley, C.T., Jr., K.D. Wikinson, D. Reines, and S.T. Warren. 1993. FMR1 protein: Conserved RNP family domains and selective RNA binding. Science 262: 563.
3. Bächner, D., A. Manca, P. Steinbach, D. Wohrle, W. Vogel, H. Hameister, and A. Poustka. 1993. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum. Mol. Genet. 2: 2043.
4. Bellen, H.J., S. Kooyer, D. D'Evelyn, and J. Pearlman. 1992. The Drosophila couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins. Genes Dev. 6: 2125.
5. Bohmann, K., J.A. Ferreira, and A.I. Lamond. 1995. Mutational analysis of p80 coilin indicates a functional interaction between coiled bodies and the nucleolus. J. Cell Biol. 131: 817.
6. Brzustowicz, L.M., T. Lehner, L.H. Castilla, G.K. Penchaszadeh, K. Wilhelmsen, R. Daniels, K.E. Davies, M. Leppert, F. Ziter, D. Wood, V. Dubowitz, J. Ott, T.L. Munsat, and T.C. Gilliam. 1990. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13. Nature 344: 540.
7. Buckanovich, R.J., J.B. Posner, and R.B. Darnell. 1993. Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system. Neuron 11: 657.
8. Burd, C.G. and G. Dreyfuss. 1994. Conserved structures and diversity of functions of RNA-binding proteins. Science 265: 615.
9. Carmo-Fonseca, M., J. Ferreira, and A.I. Lamond. 1993. Assembly of snRNP-containing coiled bodies is regulated in interphase and mitosis - Evidence that the coiled body is a kinetic nuclear structure. J. Cell Biol. 120: 841.
10. Coy, J.F., Z.-S. Sedlacek, D. Bachner, H. Hameister, S. Joos, P. Lichter, H. Delius, and A. Poustka. 1995. Highly conserved 3′ UTR and expression pattern of FXR1 points to a divergent gene regulation FXR1 and FMR1. Hum. Mol. Genet. 4: 2209.
11. De Boulle, K., A.J.M.H. Verkerk, E. Reyniers, L. Vits, J. Hendrickx, B. Van Roy, F. van den Bos, E. de Graff, B.A. Oostra, and P.J. Willems. 1993. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat. Genet. 3: 31.
12. Devys, D., Y. Lutz, N. Rouyer, J.P. Bellocq, and J.L. Mandel. 1993. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat. Genet. 4: 335.
13. Dreyfuss, G., M.J. Matunis, S. Piñol-Roma, and C.G. Burd. 1993. HnRNP proteins and the biogenesis of mRNA. Annu. Rev. Biochem. 62: 289.
14. Ebersole, T.A., Q. Chen, M.J. Justice, and K. Artzt. 1996. The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins. Nat. Genet. 12: 260.
15. Fischer, U., J. Huber, W.C. Boelens, T.W. Mattaj, and R. Luhrmann. 1995. The HIV-1 Rev activation domain is a nuclear export signal that accesses an export pathway used by specific cellular RNAs. Cell 82: 475.
16. Gall, J.G., A. Tsvetkov, Z.A. Wu, and C. Murphy. 1995. Is the sphere organelle coiled body a universal nuclear component? Dev. Genet. 16: 25.
17. Gennarelli, M., M. Lucarelli, F. Capon, A. Pizzuti, L. Merlini, C. Angelini, G. Novelli, and B. Dallapiccola. 1995. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem. Biophys. Res. Commun. 213: 342.
18. Hergersberg, M., K. Matsuo, M. Gassmann, W. Schaffner, B. Luscher, T. Rülicke, and A. Aguzzi. 1995. Tissue-specific expression of a FMR1 β-galactosidase fusion gene in transgenic mice. Hum. Mol. Genet. 4: 359.
19. Hinds, H., C. Ashley, J. Sutcliffe, D. Nelson, S. Warren, D. Housman, and M. Schalling. 1993. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat. Genet. 3: 36.
20. Khandjian, E.W., F. Corbin, S. Woerly, and F. Rousseau. 1996. The fragile X mental retardation protein is associated with ribosomes. Nat. Genet. 12: 91.
21. Kiledjian, M. and G. Dreyfuss. 1992. Primary structure and binding activity of the hnRNP U protein: Binding RNA through RGG box. EMBO J. 11: 2655.
22. Jones, K.R. and G.M. Rubin. 1990. Molecular analysis of no-on-transit A, a gene required for normal vision in Drosophila. Neuron 4: 711.
23. Lamond, A.I. and M. Carmo-Fonseca. 1993. The coiled body. Trends Cell Biol. 3: 198.
24. Lefebvre, S., L. Burglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Benichou, C. Cruaud, P. Millasseau, M. Zeviani, D.L. Paslier, J. Frezal, D. Cohen, J. Weissenbach, A. Munnich, and J. Melki. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155.
25. Lewin, B. 1995. Genes for SMA: In parvo. Cell 80: 1.
26. Lischwe, M.A., R.L. Ochs, R. Reddy, R.G. Cook, L.C. Yeoman, E.M. Tan, M. Reichlin, and H. Busch. 1985. Purification and partial characterization of a nucleolar scleroderma antigen. J. Biol. Chem. 260: 14304.
27. Liu, Q. and G. Dreyfuss. 1996. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15: 3555.
28. Melki, J., S. Abdelhak, P. Sheth, M.F. Bachelot, P. Burlet, A. Marcadet, J. Aicardi, A. Barois, J.P. Carriere, M. Fardeau, D. Fontan, G. Ponsot, T. Billette, C. Angelini, C. Barbosa, G. Ferriere, G. Lanzi, A. Ottolini, M.C. Babron, D. Cohen, A. Hanauer, F. Clerget-Darpoux, M. Lathrop, A. Munnich, and J. Frezal. 1990. Gene for chromic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767.
29. Montarras, D., C. Pinset, J. Chelly, A. Kahn, and F. Gros. 1989. Expression of MyoD1 coincides with terminal differentiation in determined but inducible muscle cells. EMBO J. 8: 2203.
30. Munsat, T.L. and K.E. Davies. 1992. Meeting report: International Consortium meeting. Neuromusc. Disorders 2: 423.
31. Musco, G., G. Stier, C. Joseph, M.A.C. Morelli, M. Nilges, T.J. Gibson, and A. Pastore. 1996. Three-dimensional structure and stability of the KH domain: Molecular insights into the fragile X syndrome. Cell 85: 237.
32. Nakamura, M., H. Okano, J.A. Blendy, and C. Montell. 1994. Musashi, a neuronal RNA-binding protein required for Drosophila adult external sensory organ development. Neuron 13: 67.
33. Nussbaum, R.L. and D.H. Ledbetter. 1995. In Fragile-X syndrome. In Metabolic basis of inherited disease, 7th edition (ed. C.R. Scriver et al.), p. 795. McGraw-Hill, New York.
34. Oostra, B.A. and P.J. Willems. 1995. A fragile gene. BioEssays 17: 941
35. Pearn, J. 1980. Classification of spinal muscular atrophies. Lancet 1: 919.
36. Pieretti, M., F. Zhang, Y. Fu, S. Warren, B. Oostra, C. Caskey, and D.L. Nelson. 1991. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817.
37. Piñol-Roma, S. and G. Dreyfuss. 1991. Transcription-dependent and transcription-independent nuclear transport of hnRNP proteins. Science 253: 312.
38. Robinow, S., A.R. Campos, K.-M. Yao, and K. White. 1988. The elav gene product of Drosophila, required in neuron, has three RNP consensus motifs. Science 242: 1570.
39. Roth, M.B. 1995. Spheres, coiled bodies and nuclear bodies. Curr. Opin. Cell Biol. 7: 325.
40. Roy, N., M.S. Mahadevan, M. McLean, G. Shutler, Z. Yaraghi, R. Farahani, S. Barid, A. Besner-Johnston, C. Lefebvre, X. Kang, M. Salih, H. Aubry, K. Tamai, X. Guan, P. Ioannou, T.O. Crawford, P.J. de Jong, L. Surh, J.-E. Ikeda, R.G. Korneluk, and A. Mackenzie. 1995. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80: 167.
41. Siomi, H., M. Choi, M. Siomi, and G. Dreyfuss. 1994. Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domains of FMR1 that cause fragile X syndrome. Cell 77: 33.
42. Siomi, H., M.J. Matunis, W.M. Michael, and G. Dreyfuss. 1993a. The pre-mRNA binding K protein contains a novel evolutionarily conserved motif. Nucleic Acids Res. 21: 1193.
43. Siomi, H., M.C. Siomi, R.L. Nussbaum, and G. Dreyfuss. 1993b. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74: 291.
44. Siomi, C.M., Y. Zhang, H. Siomi, and G. Dreyfuss. 1996. Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60s ribosomal subunits and the interactions among them. Mol. Cell. Biol. 16: 3825.
45. Siomi, C.M., H. Siomi, W. Sauer, S. Srinivasan, R. Nussbaum, and G. Dreyfuss. 1995. FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J. 14: 2401.
46. Szabo, A., J. Dalmau, G. Manley, M. Rosenfeld, E. Wong, J. Henson, J.B. Posner, and H.M. Furneaux. 1991. HuD, a paraneoplastic encephalomyelitis antigene, contains RNA-binding domains and is homologous to Elav and Sex-lethal. Cell 67: 325.
47. The Dutch-Belgian Fragile X Consortium. 1994. FMR1 Knockout mice: A model to study fragile X mental retardation. Cell 78: 23.
48. Tollervey, D., H. Lehtonen, M. Carmo-Fonseca, and E.C. Hurt. 1991. The small nucleolar RNP protein NOP1 (fibrillarin) is required for pre-rRNA processing in yeast. EMBO J. 10: 573.
49. Verheij, C., C. Bakker, E. de Graaf, J. Keulemans, R. Willemsen, A.J.M.H. Verkerk, H. Galjaard, A.J.J. Reuser, A.T. Hoogeveen, and B.A. Oostra. 1993. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363: 722.
50. Verkerk, A.J.M.H., M. Pieretti, J. Sutcliffe, Y. Fu, D. Kuhl, A. Pizzuti, O. Reiner, S. Richards, M.F. Victoria, F. Zhang, B.E. Eussen, G.-J.B. van Ommen, L.A.J. Blonden, G.J. Riggins, J.L. Chastain, C.B. Kunst, H. Galjaard, C.T. Caskey, D.L. Nelson, B.A. Oostra, and S.T. Warren. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905.
51. von Besser, H., P. Schnabel, C. Wieland, E. Fritz, R. Stanewsky, and H. Saumweber. 1990. The puff-specific Drosophila protein Bj6, encoded by the gene no-on transit A, shows homology to RNA-binding proteins. Chromosoma 100: 37.
52. Warren, S and C.T. Ashley, Jr. 1995. Triple repeat expansion mutations: The example of fragile X syndrome. Annu. Rev. Neurosci. 18: 77.
53. Wen, W., J.L. Meinkoth, R.Y. Tsien, and S. Taylor. 1995. Identification of a signal for rapid export of proteins from the nucleus. Cell 82: 463.
54. Wu, C.H.H. and J.G. Gall. 1993. U7 small nuclear RNA in C snurposomes of the Xenopus germinal vesicle. Proc. Natl. Acad. Sci. 90: 6257.
55. Wu, Z., C. Murphy, C.H.H. Wu, A. Tsvetkov, and J.G. Gall. 1993. Snurposomes and coiled bodies. Cola Spring Harbor Symp. Quant. Biol. 58: 747.
56. Zhang, Y., P. O'Connor, M. Siomi, S. Srinivasan, A. Dutra, R.L. Nussbaum, and G. Dreyfuss. 1995. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J. 14: 5358.