Presynaptic Fmr1 genotype influences the degree of synaptic connectivity in a mosaic mouse model of fragile X syndrome

Journal of Neuroscience

Volumn 27, Issue 15, 2007, Pages 4014-4018

  Hanson, Jesse E ^a   Madison, Daniel V ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autism; CA3; Connectivity; Fmr1; FMRP; Fragile X syndrome; Hippocampus; Mosaic; Presynaptic; Whole cell

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE MODEL; FEMALE; FRAGILE X SYNDROME; GENE EXPRESSION; GENOTYPE; MEDICAL RESEARCH; MOSAICISM; MOUSE; NONHUMAN; PRESYNAPTIC NERVE; PRIORITY JOURNAL; PROBABILITY; SYNAPTIC TRANSMISSION;

ANIMALS; DISEASE MODELS, ANIMAL; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENOTYPE; MICE; MICE, INBRED ICR; MICE, KNOCKOUT; MICE, TRANSGENIC; PRESYNAPTIC TERMINALS; SYNAPSES;

EID: 34247116144     PISSN: 02706474     EISSN: 02706474     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.4717-06.2007     Document Type: Article

References (38)

1. Antar LN, Dictenberg JB, Plociniak M, Afroz R, Bassell GJ (2005) Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. Genes Brain Behav 4:350-359.
2. Antar LN, Li C, Zhang H, Carroll RC, Bassell GJ (2006) Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses. Mol Cell Neurosci 32:37-48.
3. Bear MF, Huber KM, Warren ST (2004) The mGluR theory of fragile X mental retardation. Trends Neurosci 27:370-377.
4. Belmonte MK, Bourgeron T (2006) Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci 10:1221-1225.
5. Bouquet C, Soares S, von Boxberg Y, Ravaille-Veron M, Propst F, Nothias F (2004) Microtubule-associated protein 1B controls directionality of growth cone migration and axonal branching in regeneration of adult dorsal root ganglia neurons. J Neurosci 24:7204-7213.
6. Brown WT, Jenkins EC, Cohen IL, Fisch GS, Wolf-Schein EG, Gross A, Waterhouse L, Fein D, Mason-Brothers A, Ritvo E, Ruttenberg BA, Bentley W, Castells S, Opitz JM, Reynolds JF (1986) Fragile X and autism: a multicenter survey. Am J Med Genet 23:341-352.
7. Crawford DC, Acuña JM, Sherman SL (2001) FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 3:359-371.
8. Gantois I, Vandesompele J, Speleman F, Reyniers E, D'Hooge R, Severijnen LA, Willemsen R, Tassone F, Kooy RF (2006) Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model. Neurobiol Dis 21:346-357.
9. Godfraind JM, Reyniers E, De Boulle K, D'Hooge R, De Deyn PP, Bakker CE, Oostra BA, Kooy RF, Willems PJ (1996) Long-term potentiation in the hippocampus of fragile X knockout mice. Am J Med Genet 64:246-251.
10. Hadjantonakis AK, Gertsenstein M, Ikawa M, Okabe M, Nagy A (1998) Non-invasive sexing of preimplantation stage mammalian embryos. Nat Genet 19:220-222.
11. Hagerman RJ (2002) Physical and behavioral phenotype. In: Fragile X syndrome: diagnosis, treatment and research (Hagerman RJ, Hagerman PJ, eds), pp 3-109. Baltimore: Johns Hopkins UP.
12. Hagerman RJ, Ono MY, Hagerman PJ (2005) Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry 18:490-496.
13. Hanson JE, Blank M, Valenzuela RA, Garner CC, Madison DV (2007) The functional nature of synaptic circuitry is altered in area CA3 of the hippocampus in a mouse model of down syndrome. J Physiol (Lond) 579:53-67.
14. Huber KM, Gallagher SM, Warren ST, Bear MF (2002) Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci USA 99:7746-7750.
15. Ivanco TL, Greenough WT (2002) Altered mossy fiber distributions in adult Fmr1 (FVB) knockout mice. Hippocampus 12:47-54.
16. Koekkoek SK, Yamaguchi K, Milojkovic BA, Dortland BR, Ruigrok TJ, Maex R, De Graaf W, Smit AE, VanderWerf F, Bakker CE, Willemsen R, Ikeda T, Kakizawa S, Onodera K, Nelson DL, Mientjes E, Joosten M, De Schutter E, Oostra BA, Ito M, et al. (2005) Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome. Neuron 47:339-352.
17. Kooy RF (2003) Of mice and the fragile X syndrome. Trends Genet 19:148-154.
18. Larson J, Jessen RE, Kim D, Fine AK, du Hoffmann J (2005) Age-dependent and selective impairment of long-term potentiation in the anterior piriform cortex of mice lacking the fragile X mental retardation protein. J Neurosci 25:9460-9469.
19. Li J, Pelletier MR, Perez Velazquez JL, Carlen PL (2002) Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency. Mol Cell Neurosci 19:138-151.
20. Lu R, Wang H, Liang Z, Ku L, O'Donnell WT, Li W, Warren ST, 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.
21. Luo L (2000) Rho GTPases in neuronal morphogenesis. Nat Rev Neurosci 1:173-180.
22. Martínez R, Bonilla-Henao V, Jiménez A, Lucas M, Vega C, Ramos I, Sobrino F, Pintado E (2005) Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype. Mol Diagn 9:157-162.
23. Mineur YS, Sluyter F, de Wit S, Oostra BA, Crusio WE (2002) Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse. Hippocampus 12:39-46.
24. Morales J, Hiesinger PR, Schroeder AJ, Kume K, Verstreken P, Jackson FR, Nelson DL, Hassan BA (2002) Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34:961-972.
25. Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, De Sarro GB, Elia M (1999) Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia 40:1092-1099.
26. Nolin SL, Glicksman A, Houck Jr GE, Brown WT, Dobkin CS (1994) Mosaicism in fragile X affected males. Am J Med Genet 51:509-512.
27. Pan L, Zhang YQ, Woodruff E, Broadie K (2004) The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation. Curr Biol 14:1863-1870.
28. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-822.
29. Reddy KS (2005) Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 6:3.
30. Reiss AL, Freund LS, Baumgardner TL, Abrams MT, Denckla MB (1995) Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nat Genet 11:331-334.
31. Rogers SJ, Wehner DE, Hagerman R (2001) The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 22:409-417.
32. Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, et al (1994) A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 55:225-237.
33. Schenck A, Bardoni B, Langmann C, Harden N, Mandel JL, 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.
34. Simmler MC, Cattanach BM, Rasberry C, Rougeulle C, Avner P (1993) Mapping the murine Xce locus with (CA)n repeats. Mamm Genome 4:523-530.
35. Tassone F, Hagerman RJ, Iklé DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK (1999) FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 84:250-261.
36. The Dutch-Belgian Fragile X Consortium (1994) Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78:23-33.
37. Zhang YQ, Bailey AM, Matthies HJ, Renden RB, Smith MA, Speese SD, Rubin GM, Broadie K (2001) Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell 107:591-603.
38. Zhao MG, Toyoda H, Ko SW, Ding HK, Wu LJ, Zhuo M (2005) Deficits in trace fear memory and long-term potentiation in a mouse model for fragile X syndrome. J Neurosci 25:7385-7392.