Abstract
This chapter answers three basic questions, which are: (1) Why build models, (2) why build models of fragile X syndrome, and (3) what has been learned from the models of fragile X syndrome that have been made? The first question is used to frame the other two questions, providing the appropriate context by which the rest of the book should be examined. Of necessity the last two questions are only addressed briefly, and from one man’s point of view, as they contain the subject matter of the entirety of the book. Thus, the reader is introduced to the various topics under review and urged to read for him/herself their contents, drawing such conclusions as he/she thinks are warranted.
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References
Bat O, Kimmel M, Axelrod DE (1997) Computer simulation of expansions of DNA triplet repeats in the fragile X syndrome and Huntington’s disease. J Theor Biol 188:53–67
Bennetto L, Pennington BF (1996) The neuropsychology of fragile X syndrome. In: Hagerman RJ, Cronister A (eds) Fragile X syndrome: diagnosis, treatment and research. The Johns Hopkins University Press, Baltimore, pp 210–248
Bloom H (2002) Genius: a mosaic of one hundred exemplary creative minds. Warner Books, New York
Brown V, Jin P, Ceman S, Darnell JC, O’Donnell WT, Tenenbaum SA, Jin X, Feng Y, Wilkinson KD, Keene JD (2001) Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell 107:477–487
Burne T, Scott E, van Swinderen B, Hilliard M, Reinhard J, Claudianos C, Eyles D, McGrath J (2011) Big ideas for small brains: what can psychiatry learn from worms, flies, bees and fish? Mol Psychiatry 16:7–16
Chen L, Yun S-W, Seto J, Liu W, Toth M (2003) The fragile x mental retardation protein binds and regulates a novel class of mRNAs containing U-rich target sequences. Neuroscience 120:1005–1017
Clapp K, Tranfaglia M (2011) Diagnosis and Treatment. www.fraxa.org
Comery TA, Harris JB, Willems PJ, Oostra BA, Irwin SA, Weiler IJ, Greenough WT (1997) Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci USA 94:5401–5404
Cryan JF, Holmes A (2005) The ascent of mouse: advances in modelling human depression and anxiety. Nat Rev Drug Discov 4:775–790
Cunningham CL, MartĂnez Cerdeño V, Navarro Porras E, Prakash AN, Angelastro JM, Willemsen R, Hagerman PJ, Pessah IN, Berman RF, Noctor SC (2011) Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet 20:64–79
Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB (2001) Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107:489–499
Darnell JC, Fraser CE, Mostovetsky O, Stefani G, Jones TA, Eddy SR, Darnell RB (2005) Kissing complex RNAs mediate interaction between the fragile-X mental retardation protein KH2 domain and brain polyribosomes. Genes Dev 19:903–918
Denman RB (2008) FXR1P: the fragile X family member involved in muscle development. In: Denman RB (ed) RNA binding proteins in development and disease. India: Research Signpost, Trivandrum, pp 123–138
Dolzhanskaya N, Merz G, Aletta JM, Denman RB (2006) Methylation regulates FMRP’s intracellular protein–protein and protein–RNA interactions. J Cell Sci 119:1933–1946
Elvira G, Wasiak S, Blandford V, Tong X-K, Serrano A, Fan X, del Rayo Sanchez-Carbente M, Servant F, Bell AW, Boismenu D, Lacaille J-C, McPherson PS, DesGroseillers L, Sossin WS (2006) Characterization of an RNA granule from developing brain. Mol Cell Proteomics 5:635–651
Evanko D (2007) Windows on the brain. Nat Meth 4:474
Fiandaca MS, Bankiewicz KS (2010) Gene therapy for Parkinson’s disease: from non-human primates to humans. Curr Opin Mol Ther 12:519–529
Gessert S, Bugner V, Tecza A, Pinker M, Kühl M (2010) FMR1/FXR1 and the miRNA pathway are required for eye and neural crest development. Dev Biol 341:222–235
Hagerman PJ, Hagerman RJ (2004) Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 10:25–30
Hinton V, Brown WT, Wisniewski K, Rudelli R (1991) Analysis of the neocortex of three male with the fragile X syndrome. Am J Med Gen 41(3):289–294
Houle D, Govindaraju DR, Omholt S (2010) Phenomics: the next challenge. Nat Rev Genet 11:855–866
Huot M-E, Bisson N, Davidovic L, Mazroui R, Labelle Y, Moss T, Khandjian EW (2005) The RNA-binding protein fragile X-related 1 regulates somite formation in Xenopus laevis. Mol Biol Cell 16(9):4350–4361
Kanai Y, Dohmae N, Hirokawa N (2004) Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 43:513–525
Kao D-I, Aldridge GM, Weiler IJ, Greenough WT (2010) Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein. Proc Natl Acad Sci USA 107:15601–15606
Kay BK, Peng HB (eds) (1991) Xenopus laevis: practical uses in cell and molecular biology. Harcourt Brace Jovanovich, New York
Kenneson A, Zhang F, Hagedorn CH, Warren ST (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10:1449–1454
Koukoui SD, Chaudhuri A (2007) Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Res Rev 53:27–37
Krichevsky AM, Kosik KS (2001) Neuronal RNA granules: a link between RNA localization and stimulation-dependent translation. Neuron 32:683–696
Luo X, Nerlick S, An W, King ML (2011) Xenopus germline nanos1 is translationally repressed by a novel structure-based mechanism. Development 138:589–598
Miyashiro KY, Beckel-Mitchener A, Purk TP, Becker KG, Barret T, Liu L, Carbonetto S, Weiler IJ, Greenough WT, Eberwine J (2003) RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice. Neuron 37:417–431
Oostra BA, Willemsen R (2003) A fragile balance: FMR1 expression levels. Hum Mol Genet 12:R249–R257
Pacey LKK, Doering LC (2007) Developmental expression of FMRP in the astrocyte lineage: implications for fragile X syndrome. Glia 55:1601–1609
Peal D, Peterson R, Milan D (2010) Small molecule screening in Zebrafish. J Cardiovasc Transl Res 3:454–460
Pienaar IS, Götz J, Feany MB (2010) Parkinson’s disease: Insights from non-traditional model organisms. Prog Neurobiol 92:558–571
Rao A, Steward O (1991) Evidence that protein constituents of postsynaptic membrane specializations are locally synthesized: analysis of proteins synthesized within synaptosomes. J Neurosci 11:2881–2895
Raymond FL (2006) X-linked mental retardation: a clinical guide. J Med Genet 43(3):193–200
Russell B (1912) Problems of philosophy. Bookjungle, Champaign
Schaeffer C, Bardoni B, Mandel J-L, Ehresmann B, Ehresmann C, Moine H (2001) The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J 20:4803–4813
Sigler A, Murphy TH (2010) In vivo 2-photon imaging of fine structure in the rodent brain: before, during, and after stroke. Stroke 41:S117–S123
Steenbergen PJ, Richardson MK, Champagne DL (2011) The use of the zebrafish model in stress research. Prog Neuropsychopharmacol Biol Psychiatry (In Press, Corrected Proof)
Sung Y-J, Hwang M-CC, Hwang Y-W (1996) The dominant negative effects of H-Ras harboring a Gly to Ala mutation at position 60. J Biol Chem 271:30537–30543
Sung Y-J, Conti J, Currie JR, Brown WT, Denman RB (2000) RNAs that interact with the fragile X syndrome RNA binding protein FMRP. Biochem Biophys Res Commun 275:973–980
van Tijn P, Kamphuis W, Marlatt MW, Hol EM, Lucassen PJ (2011) Presenilin mouse and zebrafish models for dementia: focus on neurogenesis. Prog Neurobiol 93(2):149–164
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP 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
Vogel G (2010) Diseases in a dish take off. Science 330:1172–1173
Waung MW, Huber KM (2009) Protein translation in synaptic plasticity: mGluR-LTD, Fragile X. Curr Opin Neurobiol 19:319–326
Xie W, Denman RB (2011) Protein methylation and stress granules: Post-translational modifier or innocent bystander? Mol Biol Int pp 1–14, Article ID: 137459
Zeier Z, Kumar A, Bodhinathan K, Feller JA, Foster TC, Bloom DC (2009) Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome. Gene Ther 16:1122–1129
Zhang C, Frias MA, Mele A, Ruggiu M, Eom T, Marney CB, Wang H, Licatalosi DD, Fak JJ, Darnell RB (2010) Integrative modeling defines the Nova splicing-regulatory network and its combinatorial controls. Science 329:439–443
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Denman, R.B. (2012). Introduction: Reminiscing on Models and Modeling. In: Denman, R. (eds) Modeling Fragile X Syndrome. Results and Problems in Cell Differentiation, vol 54. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-21649-7_1
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DOI: https://doi.org/10.1007/978-3-642-21649-7_1
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