The X chromosome and fragile X mental retardation

Cytogenetic and Genome Research

Volumn 99, Issue 1-4, 2002, Pages 257-264

  Oostra, B A ^a   Willemsen, R ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN 1; FRAGILE X MENTAL RETARDATION PROTEIN 2; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

CHROMOSOME INACTIVATION; CHROMOSOME MUTATION; FRAGILE X SYNDROME; GENE ACTIVATION; GENE DISRUPTION; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; GENE TRANSFER; HUMAN; INHERITANCE; MENTAL DEFICIENCY; NERVE CELL; NONHUMAN; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; REVIEW; TRINUCLEOTIDE REPEAT; VERTICAL TRANSMISSION; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MENTAL RETARDATION, X-LINKED; MODELS, GENETIC; MUTATION; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0344099490     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000071602     Document Type: Review

References (84)

1. Abrams MT, Reiss AL, Freund LS, Baumgardner TL, Chase GA, Denckla MB: Molecular-neurobehavioral associations in females with the fragile X full mutation. Am J med Genet 51:317-327 (1994).
2. Ashley Jr C, Wilkinson KD, Reines D, Warren ST: FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262:563-568 (1993).
3. Bakker CE, de Diego Otero Y, Bontekoe C, Raghoe P, Luteijn T, Hoogeveen AT, Oostra BA, Willemsen R: Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Expl Cell Res 258:162-170 (2000).
4. Bakker CE, Verheij C, Willemsen R, Vanderhelm R, Oerlemans F, Vermey M, Bygrave A, Hoogeveen AT, Oostra BA, Reyniers E, Deboulle K, Dhooge R, Cras P, Van Velzen D, Nagels G, Martin JJ, Dedeyn PP, Darby JK, Willems PJ: Fmr1 knock-out mice: a model to study fragile X mental retardation. Cell 78:23-33 (1994).
5. Brown V, Jin P, Ceman S, Darnell JC, O'Donnell WT, Tenenbaum SA, Jin X, Feng Y, Wilkinson KD, Keene JD, Darnell RB, Warren ST: Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. Cell 107:477-487 (2001).
6. Brown V, Small K, Lakkis L, Feng Y, Gunter C, Wilkinson KD, Warren ST: Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein. J biol Chem 273:15521-15527 (1998).
7. Chiurazzi P, Pomponi MG, Pietrobono R, Bakker CE, Neri G, Oostra BA: Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum molec Genet 8:2317-2323 (1999).
8. Chiurazzi P, Pomponi MG, Willemsen R, Oostra BA, Neri G: In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum molec Genet 7:109-113 (1998).
9. Coffee B, Zhang F, Ceman S, Warren ST, Reines D: Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome. Am J hum Genet 71:923-932 (2002).
10. Coffee B, Zhang F, Warren ST, Reines D. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nature Genet 22:98-101 (1999).
11. Comery TA, Harris JB, Willems PJ, Oostra BA, Irwin SA, Weiler IJ, Greenough WT: Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc natl Acad Sci, USA 94: 5401-5404 (1997).
12. Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown WT, Carpenter NJ, Howard-Peebles PN, Monaghan KG, Nolin SL, Reiss AL, Feldman GL, Rohlfs EM, Warren ST, Sherman SL: Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. Am J hum Genet 66:480-493 (2000a).
13. Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL: Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum molec Genet 9:1759-1769 (2000b).
14. Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB: Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107:489-499 (2001).
15. De Diego Otero Y, Severijnen LA, Van Cappellen G, Schrier M, Oostra B, Willemsen R: Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. Mol Cell Biol 22:8332-8341 (2002).
16. de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF: Mental status of females with an FMR1 gene full mutation. Am J hum Genet 58:1025-1032 (1996).
17. De Vries BBA, Jansen CAM, Duits AA, Verheij C, Willemsen R, Van Hemel JO, Van den Ouweland AMW, Niermeijer MF, Oostra BA, Halley DJJ: Variable FMR1 gene methylation leads to variable phenotype in 3 males from one fragile X family. J med Genet 33:1007-1010 (1996).
18. Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet 4:335-340 (1993).
19. Eberhart DE, Malter HE, Feng Y, Warren ST: The fragile X mental retardation protein is a ribosonucleo-protein containing both nuclear localization and nuclear export signals. Hum molec Genet 5:1083-1091 (1996).
20. Eichler EE, Holden J, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL: Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet 8:88-94 (1994).
21. Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL: Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum molec Genet 5:319-330 (1996).
22. Feng Y, Gutekunst CA, Eberhart DE, Yi H, Warren ST, Hersch SM: Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci 17:1539-1547 (1997).
23. Fridell RA, Benson RE, Hua J, Bogerd HP, Cullen BR: A nuclear role for the fragile X mental retardation protein. EMBO J 15:5408-5414 (1996).
24. Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ: Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771 (2002).
25. Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz C, Murray A, Macpherson JN, Sherman SL, Warren ST: Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum molec Genet 7: 1935-1946 (1998).
26. Hagerman RJ: The physical and behavioural phenotype, in Hagerman RJ, Hagerman PJ (eds): Fragile-X Syndrome: Diagnosis, Treatment and Research, pp 3-109 (The Johns Hopkins University Press, Baltimore 2002).
27. Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, Oconnor RA, Seydel C, Mazzocco M, Snow K, Thibodeau SN, Kuhl D, Nelson DL, Caskey CT, Taylor AK: High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J med Genet 51:298-308 (1994).
28. Huber KM, Gallagher SM, Warren ST, Bear MF: Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc natl Acad Sci, USA 99:7746-7750 (2002).
29. Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP, Kooy F, Willems PJ, Cras P, Kozlowski PB, Swain RA, Weiler IJ, Greenough WT: Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J med Genet 98:161-167 (2001).
30. Kang SM, Ohshima K, Shimizu M, Amirhaeri S, Wells RD: Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J biol Chem 270:27014-27021 (1995).
31. Kooy RF, Willemsen R, Oostra BA: Fragile X syndrome at the turn of the century. Mol Med Today 6:193-198 (2000).
32. Kovtun IV, McMurray CT: Trinucleotide expansion in haploid germ cells by gap repair. Nature Genet 27:407-411 (2001).
33. Kumari D, Usdin K: Interaction of the transcription factors USF1, USF2, and alpha-Pal/Nrf-1 with the FMR1 promoter. Implications for fragile X mental retardation syndrome. J biol Chem 276:4357-4364 (2001).
34. Kunst CB, Warren ST: Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861 (1994).
35. Laggerbauer B, Ostareck D, Keidel EM, Ostareck-Lederer A, Fischer U: Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum Mol Genet 10:329-338 (2001).
36. Li Z, Zhang Y, Ku L, Wilkinson KD, Warren ST, Feng Y: The fragile X mental retardation protein inhibits translation via interacting with mRNA. Nucleic Acids Res 29:2276-2283 (2001).
37. Malter HE, Iber JC, Willemsen R, De Graaff E, Tarleton JC, Leisti J, Warren ST, Oostra BA: Characterization of the full fragile X syndrome mutation in fetal gametes. Nature Genet 15:165-169 (1997).
38. Manley K, Shirley TL, Flaherty I, Messer A: Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nature Genet 23:471-473 (1999).
39. McConkie-Rosell A, Lachiewicz A, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewardena P, Ding X, Brown WT: Evidence that methylation of the FMR1 locus is responsible for variant phenotypic expression of the fragile X syndrome. Am J Hum Genet 53:800-809 (1993).
40. Moutou C, Vincent MC, Biancalana V, Mandel JL: Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum Mol Genet 6:971-979 (1997).
41. Nolin SL, Glicksman A, Houck GE, Brown WT, Dobkin CS: Mosaicism in fragile X affected males. Am J Med Genet 51:509-512 (1994).
42. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102 (1991).
43. Oostra B, Chiurazzi P: The fragile X gene and its function. Clin Genet 60:399-408 (2001).
44. Oostra BA, Jacky PB, Brown WT, Rousseau F: Guidelines for the diagnosis of fragile X syndrome. J med Genet 30:410-413 (1993).
45. Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR: Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37:2701-2708 (1998).
46. Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817-822 (1991).
47. Reiss AL, Freund LS, Baumgardner TL, Abrams MT, Denckla MB: Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nature Genet 11:331-334 (1995).
48. Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJMH, Jorens HZ, Darby JK, Oostra BA, Willems PJ: The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genet 4:143-146 (1993).
49. Richards RI, Sutherland GR: Heritable unstable DNA sequences. Nature Genet 1:7-9 (1992).
50. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, Gilgenkranz S, Jalbert P, Voelckel MA, Oberlé I, Mandel JL: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681 (1991a).
51. Rousseau F, Heitz D, Oberlé I, Mandel JL: Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J med Genet 28:830-836 (1991b).
52. Rousseau F, Heitz D, Tarleton J, Macpherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos J, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB 12.3: the first 2,253 cases. Am J hum Genet 55:225-237 (1994).
53. Samadashwily GM, Raca G, Mirkin SM: Trinucleotide repeats affect DNA replication in vivo. Nature Genet 17:298-304 (1997).
54. Schaeffer C, Bardoni B, Mandel JL, Ehresmann B, Ehresmann C, Moine H: The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J 20:4803-4813 (2001).
55. Shahbazian MD, Zoghbi HY: Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 14:171-176 (2001).
56. Shimizu M, Gellibolian R, Oostra BA, Wells RD: Cloning and characterization, and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J molec Biol 258:614-626 (1996).
57. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G: The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74:291-298 (1993).
58. Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum RL, Dreyfuss G: FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J 14:2401-2408 (1995).
59. Smeets H, Smits A, Verheij CE, Theelen J, Willemsen R, Losekoot M, Van de Burgt I, Hoogeveen AT, Oosterwijk J, Oostra BA: Normal phenotype in two brothers with a full FMR1 mutation. Hum molec Genet 4:2103-2108 (1995).
60. Sobesky WE, Taylor AK, Pennington BF, Bennetto L, Porter D, Riddle J, Hagerman RJ: Molecular/clinical correlations in females with fragile X. Am J med Genet 64:340-345 (1996).
61. Takagi N, Sasaki M: Preferential expression the paternally derived X chromosome in the extraembryonal membranes of the mouse. Nature 256:640-643 (1975).
62. Tamanini F, Bontekoe C, Bakker CE, van Unen L, Anar B, Willemsen R, Yoshida M, Galjaard H, Oostra BA, Hoogeveen AT: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum molec Genet 8:863-869 (1999).
63. Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, Hoogeveen AT: Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum molec Genet 6:1315-1322 (1997).
64. Tan SS, Williams EA, Tam PP: X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo. Nature Genet 2:170-174 (1993).
65. Tassone F, Hagerman RJ, Ikle DN, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK: FMRP expression as a potential prognostic indicator in fragile X syndrome. Am J med Genet 84:250-261 (1999).
66. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J hum Genet 66:6-15 (2000).
67. Tassone F, Hagerman RJ, Taylor AK, Hagerman PJ: A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. J med Genet 38:453-456 (2001).
68. Taylor AK, Tassone F, Dyer PN, Hersch SM, Harris JB, Greenough WT, Hagerman RJ: Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J med Genet 84:233-239 (1999).
69. Usdin K, Woodford KJ: CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucl Acids Res 23:4202-4209 (1995).
70. Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA: Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363:722-724 (1993).
71. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, Van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST: 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 (1991).
72. Weiler IJ, Irwin SA, Klintsova AY, Spencer CM, Brazelton AD, Miyashiro K, Comery TA, Patel B, Eberwine J, Greenough WT: Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc natl Acad Sci, USA 94:5395-5400 (1997).
73. Weisman-Shomer P, Cohen E, Fry M: Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures. Nucl Acids Res 28:1535-1541 (2000).
74. Wells RD: Molecular basis of genetic instability of triplet repeats. J biol Chem 271:2875-2878 (1996).
75. n triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol Cell Biol 19:5675-5684 (1999).
76. Willemsen R, Anar B, de Diego Otero Y, de Vries BB, Hilhorst-Hofstee Y, Smits A, van Looveren E, Willems PJ, Galjaard H, Oostra BA: Noninvasive test for fragile X syndrome, using hair root analysis. Am J hum Genet 65:98-103 (1999).
77. Willemsen R, Bontekoe C, Tamanini F, Galjaard H, Hoogeveen AT, Oostra BA: Association of FMRP with ribosomal precursor particles in the nucleolus. Biochem biophys Res Commun 225:27-33 (1996).
78. Willemsen R, Bontekoe CJ, Severijnen LA, Oostra BA: Timing of the absence of FMR1 expression in full mutation chorionic villi. Hum Genet 110:601-605 (2002).
79. Willemsen R, Mohkamsing S, De Vries B, Devys D, Van den Ouweland A, Mandel JL, Galjaard H, Oostra B: Rapid antibody test for fragile X syndrome. Lancet 345:1147-1148 (1995).
80. Willemsen R, Olmer R, De Diego Otero Y, Oostra BA: Twin sisters: monozygotic with the fragile X mutation, but with a different phenotype. J med Genet 37:603-604 (2000).
81. Wohrle D, Salat U, Glaser D, Mucke J, Meisel-Stosiek M, Schindler D, Vogel W, Steinbach P: Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. J Med Genet 35:103-111 (1998).
82. Wohrle D, Schwemmle S, Steinbach P: DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome. Letter to the editor. Am J med Genet 64:266-267 (1996).
83. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, Sutherland GR, Richards RI: Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181 (1991).
84. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G: The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J 14: 5358-5366 (1995).