Come FLY with us: Toward understanding fragile X syndrome

Genes, Brain and Behavior

Volumn 4, Issue 6, 2005, Pages 385-392

  Zarnescu, D C ^a   Shan, G ^a   Warren, S T ^a   Jin, P ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

dFmr1; Drosophila; FMRP; Fragile X syndrome

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

BEHAVIOR DISORDER; DROSOPHILA; DRUG RESEARCH; EXPERIMENTAL MODEL; FRAGILE X SYNDROME; NERVE CELL LESION; NONHUMAN; OOCYTE DEVELOPMENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SPERMATOGENESIS; SYNAPTOGENESIS;

ANIMALS; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GAMETOGENESIS; GONADS; HUMANS; MICRORNAS; NERVOUS SYSTEM; RNA, MESSENGER; RNA-BINDING PROTEINS; SYNAPTIC TRANSMISSION;

DROSOPHILA MELANOGASTER;

EID: 23944440893     PISSN: 16011848     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2005.00136.x     Document Type: Review

References (50)

1. Bartel, D.P. (2004) MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116, 281-297.
2. Bear, M.F., Huber, K.M. & Warren, S.T. (2004) The mGluR theory of fragile X mental retardation. Trends Neurosci 27, 370-377.
3. Bilder, D. (2004) Epithelial polarity and proliferation control: links from the Drosophila neoplastic tumor suppressors. Genes Dev 18, 1909-1925.
4. Caudy, A.A., Myers, M., Hannon, G.J. & Hammond, S.M. (2002) Fragile X-related protein and VIG associate with the RNA interference machinery. Genes Dev 16, 2491-2496.
5. Ceman, S., O'Donnell, W.T., Reed, M., Patton, S., Pohl, J. & Warren, S.T. (2003) Phosphorylation influences the translation state of FMRP-associated polyribosomes. Hum Mol Genet 12, 3295-3305.
6. +mRNA in actively translating polyribosomes. Hum Mol Genet 6, 1465-1472.
7. Costa, A., Wang, Y., Dockendorff, T.C., Erdjument-Bromage, H., Tempst, P., Schedl, P. & Jongens, T.A. (2005) The Drosophila fragile-X protein functions as a negative regulator in the orb autoregulatory pathway. Dev Cell 8, 331-342.
8. De Boulle, K., Verkerk, A.J., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., Van den Bos, F., de Graaff, E., Oostra, B.A. & Willems, P.J. (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 3, 31-35.
9. Dockendorff, T.C., Su, H.S., McBride, S.M., Yang, Z., Choi, C.H., Siwicki, K.K., Sehgal, A. & Jongens, T.A. (2002) Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron 34, 973-984.
10. Eberhart, D.E., Malter, H.E., Feng, Y. & Warren, S.T. (1996) The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet 5, 1083-1091.
11. Feng, Y., Absher, D., Eberhart, D.E., Brown, V., Malter, H.E. & Warren, S.T. (1997) FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Mol Cell 1, 109-118.
12. Fu, Y.H., Kuhl, D.P., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J., Holden, J.J., Fenwick, R.G. Jr, Warren, S.T., Oostra, B.A., Nelson, D.L. & Caskey, C.T. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058.
13. Gao, F.B. (2002) Understanding fragile X syndrome: insights from retarded flies. Neuron 34, 859-862.
14. Hagerman, R.J. & Hagerman, P.J. (2002) Fragile X syndrome: diagnosis, treatment and research. The John Hopkins University Press, Baltimore.
15. Hinton, V.J., Brown, W.T., Wisniewski, K. & Rudelli, R.D. (1991) Analysis of neocortex in three males with the fragile X syndrome. Am J Med Genet 41, 289-294.
16. Huber, K.M., Gallagher, S.M., Warren, S.T. & Bear, M.F. (2002) Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci USA 99, 7746-7750.
17. Inoue, S., Shimoda, M., Nishinokubi, I., Siomi, M., Okamura, M., Nakamura, A., Kobayashi, S., Ishida, N. & Siomi, H. (2002) A role for the Drosophila fragile X-related gene in circadian output. Curr Biol 12, 1331.
18. Ishizuka, A., Siomi, M.C. & Siomi, H. (2002) A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev 16, 2497-2508.
19. Jin, P., Zarnescu, D.C., Ceman, S., Nakamoto, M., Mowrey, J., Jongens, T.A., Nelson, D.L., Moses, K. & Warren, S.T. (2004) Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci 7, 113-117.
20. Khandjian, E.W., Corbin, F., Woerly, S. & Rousseau, F. (1996) The fragile X mental retardation protein is associated with ribosomes. Nat Genet 12, 91-93.
21. Kobayashi, K., Kuroda, S., Fukata, M., Nakamura, T., Nagase, T., Nomura, N., Matsuura, Y., Yoshida-Kubomura, N., Iwamatsu, A. & Kaibuchi, K. (1998) p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase. J Biol Chem 273, 291-295.
22. Kremer, E.J., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S.T., Schlessinger, D., Sutherland, G.R. & Richards, R.I. (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence, p(CCG)n. Science 252, 1711-1714.
23. Lee, A., Li, W., Xu, K., Bogert, B.A., Su, K. & Gao, F.B. (2003) Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1. Development 130, 5543-5552.
24. Lu, R., Wang, H., Liang, Z., Ku, L., O'Donnell, W.T., Li, W., Warren, S.T. & Feng, Y. (2004) The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development. Proc Natl Acad Sci USA 101, 15201-15206.
25. Lugenbeel K.A., Peier A.M., Carson N.L., Chudley A.E., Nelson D.L. (1995) Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet 10, 483-485.
26. Manev, H., Dimitrijevic, N. & Dzitoyeva, S. (2003) Techniques: fruit flies as models for neuropharmacological research. Trends Pharmacol Sci 24, 41-43.
27. McBride, S.M., Choi, C.H., Wang, Y., Liebelt, D., Braunstein, E., Ferreiro, D., Sehgal, A., Siwicki, K.K., Dockendorff, T.C., Nguyen, H.T., McDonald, T.V. & Jongens, T.A. (2005) Pharmacological rescue of synaptic plasticity, courtship behavior and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 45, 753-764.
28. Michel, C.I., Kraft, R. & Restifo, L.L. (2004) Defective neuronal development in the mushroom bodies of Drosophila fragile X mental retardation 1 mutants. J Neurosci 24, 5798-5809.
29. Morales, J., Hiesinger, P.R., Schroeder, A.J., Kume, K., Verstreken, P., Jackson, F.R., Nelson, D.L. & Hassan, B.A. (2002) Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34, 961-972.
30. Nimchinsky, E.A., Oberlander, A.M. & Svoboda, K. (2001) Abnormal development of dendritic spines in FMR1 knock-out mice. J Neurosci 21, 5139-5146.
31. Novina, C.D. & Sharp, P.A. (2004) The RNAi revolution. Nature 430, 161-164.
32. Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M.F. & Mandel, J.L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102.
33. Okamura, K., Ishizuka, A., Siomi, H. & Siomi, M.C. (2004) Distinct roles for Argonaute proteins in small RNA-directed RNA cleavage pathways. Genes Dev 18, 1655-1666.
34. Pan, L., Zhang, Y.Q., Woodruff, E. & Broadie, K. (2004) The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation. Curr Biol 14, 1863-1870.
35. Peier, A.M., McIlwain, K.L., Kenneson, A., Warren, S.T., Paylor, R. & Nelson, D.L. (2000) (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum Mol Genet 9, 1145-1159.
36. Pieretti M., Zhang F.P., Fu Y.H., Warren S.T., Oostra B.A., Caskey C.T., Nelson D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822.
37. Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.L. & Giangrande, A. (2003) CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 38, 887-898.
38. Siomi, M.C., Siomi, H., Sauer, W.H., Srinivasan, S., Nussbaum, R.L. & Dreyfuss, G. (1995) FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J 14, 2401-2408.
39. Siomi, M.C., Higashijima, K., Ishizuka, A. & Siomi, H. (2002) Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties. Mol Cell Biol 22, 8438-8447.
40. Spradling, A.C., de Cuevas, M., Drummond-Barbosa, D., Keyes, L., Lilly, M., Pepling, M. & Xie, T. (1997) The Drosophila germarium: stem cells, germ line cysts, and oocytes. Cold Spring Harb Symp Quant Biol 62, 25-34.
41. Stefani, G., Fraser, C.E., Darnell, J.C. & Darnell, R.B. (2004) Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells. J Neurosci 24, 9272-9276.
42. Verkerk, A.J., Pieretti, M., Sutcliffe, U.S. et al. (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, 905-914.
43. Wan, L., Dockendorff, T.C., Jongens, T.A. & Dreyfuss, G. (2000) Characterization of dFMR1, a drosophila melanogaster homolog of the fragile X mental retardation protein [In Process Citation]. Mol Cell Biol 20, 8536-8547.
44. Warren, S.T. & Sherman, S.L. (2001) The fragile X syndrome. In Scriver, C.R., Beaudet, A.L., Valle, D., Childs, B., Kinzler, K.W. & Vogelstein, B. (eds), The Metabolic and Molecular Bases of Inherited Disease, Vol. 1. McGraw-Hill Companies, New York, pp. 1257-1290.
45. Wohrle, D., Kotzot, D., Hirst, M.C., Manca, A., Korn, B., Schmidt, A., Barbi, G., Rott, H.D., Poustka, A., Davies, K.E & Steinbach, P. (1992) A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 51, 299-306.
46. Xu, K., Bogert, B.A., Li, W., Su, K., Lee, A. & Gao, F.B. (2004) The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1. Curr Biol 14, 1025-1034.
47. Zarnescu, D.C., Jin, P., Betschinger, J., Nakamoto, M., Wang, Y., Feng, Y., Dockendorff, T.C., Jongens, T.A., Sisson, J., Knoblich, J., Warren, S.T. & Moses, K. (2005) Fragile X protein functions with LgI and the PAR complex in flies and mice. Dev Cell 8, 43-52.
48. Zhang, Y., O'Connor, J.P., Siomi, M.C., Srinivasan, S., Dutra, A., Nussbaum, R.L. & Dreyfuss, G. (1995) The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J 14, 5358-5366.
49. Zhang, Y.Q., Bailey, A.M., Matthies, H.J., Renden, R.B., Smith, M.A, Speese, S.D., Rubin, G.M. & Broadie, K. (2001) Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell 107, 591-603.
50. Zhang, Y.Q., Matthies, H.J., Mancuso, J., Andrews, H.K., Woodruff, E. III, Friedman, D. & Broadie, K. (2004) The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis. Dev Biol 270, 290-307.