The fragile X syndrome: One protein missing and 1001 disoriented mRNAs;Le syndrome de l'X fragile: Une protéine absente et 1001 ARNm déboussolés

Medecine/Sciences

Volumn 22, Issue 1, 2006, Pages 41-46

  Davidovic, Laetitia ^a,b   Tremblay, Sandra ^a,b   Gravel, Maud ^a,b   De Koninck, Paul ^b,c   Khandjian, Edward W Miky ^a,b  

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

^c CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE QUÉBEC   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GENE PRODUCT; MESSENGER RNA; PROTEIN FXR1P; PROTEIN FXR2P; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

CELL DIFFERENTIATION; DENDRITIC CELL; FMR1 GENE; FRAGILE X SYNDROME; GENE; GENE SILENCING; HUMAN; MENTAL DEFICIENCY; NERVE CELL DIFFERENTIATION; REVIEW; RNA TRANSLATION; RNA TRANSPORT; TRANSCRIPTION REGULATION;

EID: 31144476149     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/200622141     Document Type: Review

References (30)

1. Bardoni B, Mandel JL. Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev 2002; 12: 284-93.
2. O'Donnell WT, Warren ST. A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci 2002; 25: 315-38.
3. Hagerman PJ, Cronister A. Fragile X syndrome: diagnosis, treatment and research. Baltimore: University Press, 1996.
4. Khandjian EW. Biology of the fragile X mental retardation protein, an RNA-binding protein. Biochem Cell Biol 1999; 77: 331-42.
5. Mazroui R, Huot ME, Tremblay S, et al. Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs. Hum Mol Genet 2003; 12: 3087-96.
6. Devys D, Lutz Y, Rouyer N, et al. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993; 4: 335-40.
7. Consortium TD-BFX. Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. Cell 1994; 78: 23-33.
8. Khandjian EW, Bardoni B, Corbin F, et al. Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. Hum Mol Genet 1998; 7; 2121-8.
9. Mientjes EJ, Willemsen R, Kirkpatrick LL, et al. Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet 2004; 13: 1291-302.
10. Huot ME, Bisson N, Davidovic L, et al. The RNA-binding protein Fragile X-related 1 regulates somite formation in Xenopus laevis. Mol Biol Cell 2005; 16: 4350-61.
11. Bontekoe CJ, McIlwain KL, Nieuwenhuizen IM, et al. Knockout mouse model for Fxr2: a model for mental retardation. Hum Mol Genet 2002; 11: 487-98.
12. Guduric-Fuchs J, Mohrlen F, Frohme M, Frank U. A fragile X mental retardation-like gene in a cnidarian. Gene 2004; 343: 231-8.
13. Corbin F, Bouillon M, Fortin A, et al. The fragile X mental retardation protein is associated with poly(A)- mRNA in actively translating polyribosomes. Hum Mol Genet 1997; 6: 1465-72.
14. Brown V, Jin P, Ceman S, et al. Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell 2001; 107: 477-87.
15. Mazroui R, Huot ME, Tremblay S, et al. Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression. Hum Mol Genet 2002; 11: 3007-17.
16. Jin P, Alisch RS, Warren ST. RNA and microRNAs in fragile X mental retardation. Nat Cell Biol 2004; 6: 1048-53.
17. Khandjian EW, Huot ME, Tremblay S, et al. Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles. Proc Natl Acad Sci USA 2004; 101: 13357-62.
18. Stefani G, Fraser CE, Darnell JC, Darnell RB. Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells. J Neurosci 2004; 24: 7272-6.
19. Darnell JC, Mostovetsky O, Darnell RB. FMRP RNA targets: identification and validation. Genes Brain Behav 2005; 4: 541-9.
20. Miyashiro KY, Beckel-Mitchener A, Purk TP, et al. RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron 2003; 37: 417-31.
21. Antar LN, Afroz R, Dictenberg JB, et al. Metabotropic glutamate receptor activation regulates fragile X mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. J Neurosci 2004; 24: 2648-55.
22. Davidovic L, Tremblay S, De Koninck P, Khandjian EW. Fragile X Mental Retardation Protein: To be or not to be a Translational Repressor. In: Sung YJ, Denman RB, eds. The molecular basis of fragile X syndrome. Kerala (India): Research Signpost, 2005: 129-43.
23. Ivanyi-Nagy R, Davidovic L, Khandjian EW, Darlix JL. Disordered RNA chaperone proteins: from functions to disease. Cell Mol Life Sci 2005; 62: 1-9.
24. Khandjian EW, Corbin F, Woerly S, Rousseau F. The fragile X mental retardation protein is associated with ribosomes. Nat Genet 1996; 12: 91-3.
25. Weiler IJ, Irwin SA, Klintsova AY, et al. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 1997; 94: 5395-400.
26. Greenough WT, Klintsova AY, Irwin SA, et al. Synoptic regulation of protein synthesis and the fragile X protein. Proc Natl Acad Sci USA 2001; 98: 7101-6.
27. Castets M, Schaeffer C, Bechara E, et al. FMRP interferes with the Rod pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet 2005; 14: 835-44.
28. Kedersha N, Anderson P. Stress granules: sites of mRNA triage that regulate mRNA stability and translatability. Biochem Soc Trans 2002; 30: 963-9.
29. Wickens M, Goldstrohm A. Molecular biology. A place to die, a place to sleep. Science 2003; 300: 753-5.
30. Vanderklish PW, Edelman GM. Differential translation and fragile X syndrome. Genes Brain Behav 2005; 4: 360-84.