The involvement of epigenetic defects in mental retardation

Neurobiology of Learning and Memory

Volumn 96, Issue 1, 2011, Pages 61-67

  Franklin, Tamara B ^a   Mansuy, Isabelle M ^a  

^a University of Zurich Brain Research Institute   (Switzerland)

Author keywords

DNA methylation; Epigenetic; Histone modification; Imprinting; Mental retardation

Indexed keywords

ATR PROTEIN; ATR X PROTEIN; DNA METHYLTRANSFERASE INHIBITOR; HISTONE; HISTONE DEACETYLASE INHIBITOR; METHYL CPG BINDING PROTEIN 2; PROTEIN CBP; PROTEIN KDM5C; PROTEIN NSD1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; VORINOSTAT;

ARTICLE; CHROMOSOME TRANSLOCATION; COFFIN LOWRY SYNDROME; DEVELOPMENTAL DISORDER; DNA METHYLATION; DRUG MECHANISM; ENZYME INHIBITION; EPIGENETICS; FRAGILE X SYNDROME; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; IMMUNODEFICIENCY CENTROMERIC REGION INSTABILITY AND FACIAL ANOMALIES SYNDROME; INCIDENCE; MEMORY DISORDER; MENTAL DEFICIENCY; NONHUMAN; POINT MUTATION; PROTEIN DOMAIN; PROTEIN PROCESSING;

BRAIN; DNA METHYLATION; EPIGENESIS, GENETIC; HISTONES; HUMANS; MENTAL RETARDATION; MUTATION;

EID: 79957980797     PISSN: 10747427     EISSN: 10959564     Source Type: Journal    
DOI: 10.1016/j.nlm.2011.04.001     Document Type: Article

References (74)

1. Aber K.M., Nori P., MacDonald S.M., Bibat G., Jarrar M.H., Kaufmann W.E. Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: An immunochemical study of subcellular fractions. Neuroscience 2003, 116:77-80.
2. Alarcon J.M., Malleret G., Touzani K., Vronskaya S., Ishii S., Kandel E.R., et al. Chromatin acetylation, memory, and LTP are impaired in CBP mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron 2004, 42:947-959.
3. American Psychiatric Association (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington, DC: The American Psychiatric Association.
4. Amor D.J., Halliday J. A review of known imprinting syndromes and their association with assisted reproduction technologies. Human Reproduction 2008, 23:2826-2834.
5. Argentaro A., Yang J.C., Chapman L., Kowalczyk M.S., Gibbons R.J., Higgs D.R., et al. Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:11939-11944.
6. Armstrong D., Dunn J.K., Antalffy B., Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. Journal of Neuropathology and Experimental Neurology 1995, 54:195-201.
7. Baker L.A., Allis C.D., Wang G.G. PHD fingers in human diseases: Disorders arising from misinterpreting epigenetic marks. Mutation Research 2008, 647:3-12.
8. Ballas N., Lioy D.T., Grunseich C., Mandel G. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nature Neuroscience 2009, 12:311-317.
9. Balmer D., Goldstine J., Rao Y.M., LaSalle J.M. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. Journal of Molecular Medicine 2003, 81:61-68.
10. Bauman M.L., Kemper T.L., Arin D.M. Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome. Neurology 1995, 45:1581-1586.
11. Ben-Shachar S., Chahrour M., Thaller C., Shaw C.A., Zoghbi H.Y. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Human Molecular Genetics 2009, 18:2431-2442.
12. Berger S.L. The complex language of chromatin regulation during transcription. Nature 2007, 447:407-412.
13. Berube N.G., Mangelsdorf M., Jagla M., Vanderluit J., Garrick D., Gibbons R.J., et al. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. Journal of Clinical Investigation 2005, 115:258-267.
14. Canfield M.A., Collins J.S., Botto L.D., Williams L.J., Mai C.T., Kirby R.S., et al. Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: Findings from a multi-state population-based study. Birth Defects Research Part A: Clinical and Molecular Teratology 2005, 73:679-689.
15. Carter J.C., Lanham D.C., Pham D., Bibat G., Naidu S., Kaufmann W.E. Selective cerebral volume reduction in Rett syndrome: A multiple-approach MR imaging study. American Journal of Neuroradiology 2008, 29:436-441.
16. Chahrour M., Jung S.Y., Shaw C., Zhou X., Wong S.T., Qin J., et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008, 320:1224-1229.
17. Chamberlain S.J., Lalande M. Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13. Neurobiology of Disease 2010, 39:13-20.
18. Chim S.S., Jin S., Lee T.Y., Lun F.M., Lee W.S., Chan L.Y., et al. Systematic search for placental DNA-methylation markers on chromosome 21: Toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clinical Chemistry 2008, 54:500-511.
19. Chiurazzi P., Pomponi M.G., Willemsen R., Oostra B.A., Neri G. In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Human Molecular Genetics 1998, 7:109-113.
20. Colantuoni C., Jeon O.H., Hyder K., Chenchik A., Khimani A.H., Narayanan V., et al. Gene expression profiling in postmortem Rett Syndrome brain: Differential gene expression and patient classification. Neurobiology of Disease 2001, 8:847-865.
21. Coppede F. The complex relationship between folate/homocysteine metabolism and risk of Down syndrome. Mutation Research 2009, 682:54-70.
22. Cosgrove M.S. PHinDing a new histone " effector" domain. Structure 2006, 14:1096-1098.
23. Dani V.S., Nelson S.B. Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome. Journal of Neuroscience 2009, 29:11263-11270.
24. Deng D., Liu Z., Du Y. Epigenetic alterations as cancer diagnostic, prognostic, and predictive biomarkers. Advances in Genetics 2010, 71:125-176.
25. Dulac C. Brain function and chromatin plasticity. Nature 2010, 465:728-735.
26. Ehrlich M., Sanchez C., Shao C., Nishiyama R., Kehrl J., Kuick R., et al. ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity 2008, 41:253-271.
27. Fraga M.F., Ballestar E., Paz M.F., Ropero S., Setien F., Ballestar M.L., et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proceedings of the National Academy of Sciences of the United States of America 2005, 102:10604-10609.
28. Gonzales M.L., LaSalle J.M. The role of MeCP2 in brain development and neurodevelopmental disorders. Current Psychiatry Report 2010, 12:127-134.
29. Gravina G.L., Festuccia C., Marampon F., Popov V.M., Pestell R.G., Zani B.M., et al. Biological rationale for the use of DNA methyltransferase inhibitors as new strategy for modulation of tumor response to chemotherapy and radiation. Molecular Cancer 2010, 9:305.
30. Gregg C., Zhang J., Butler J.E., Haig D., Dulac C. Sex-specific parent-of-origin allelic expression in the mouse brain. Science 2010, 329:682-685.
31. Hagerman R.J., Hull C.E., Safanda J.F., Carpenter I., Staley L.W., O'Connor R.A., et al. High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. American Journal of Medical Genetics 1994, 51:298-308.
32. Haque F.N., Gottesman I.I., Wong A.H. Not really identical: Epigenetic differences in monozygotic twins and implications for twin studies in psychiatry. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 2009, 151C:136-141.
33. Huang N., vom Baur E., Garnier J.M., Lerouge T., Vonesch J.L., Lutz Y., et al. Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO Journal 1998, 17:3398-3412.
34. Iwase S., Lan F., Bayliss P., de la Torre-Ubieta L., Huarte M., Qi H.H., et al. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell 2007, 128:1077-1088.
35. Jeanpierre M., Turleau C., Aurias A., Prieur M., Ledeist F., Fischer A., et al. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Human Molecular Genetics 1993, 2:731-735.
36. Jensen, L. R., Chen, W., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., et al. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet. doi:10.1038/ejhg.2010.244.
37. Jin B., Tao Q., Peng J., Soo H.M., Wu W., Ying J., et al. DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Human Molecular Genetics 2008, 17:690-709.
38. Kalkhoven E., Roelfsema J.H., Teunissen H., den Boer A., Ariyurek Y., Zantema A., et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Human Molecular Genetics 2003, 12:441-450.
39. Kalkhoven E., Teunissen H., Houweling A., Verrijzer C.P., Zantema A. The PHD type zinc finger is an integral part of the CBP acetyltransferase domain. Molecular and Cellular Biology 2002, 22:1961-1970.
40. Karagianni P., Amazit L., Qin J., Wong J. ICBP90, a novel methyl K9 H3 binding protein linking protein ubiquitination with heterochromatin formation. Molecular and Cellular Biology 2008, 28:705-717.
41. Kilgore M., Miller C.A., Fass D.M., Hennig K.M., Haggarty S.J., Sweatt J.D., et al. Inhibitors of class 1 histone deacetylases reverse contextual memory deficits in a mouse model of Alzheimer's disease. Neuropsychopharmacology 2010, 35:870-880.
42. Kishi N., Macklis J.D. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Molecular and Cellular Neurosciences 2004, 27:306-321.
43. Klose R.J., Sarraf S.A., Schmiedeberg L., McDermott S.M., Stancheva I., Bird A.P. DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG. Molecular Cell 2005, 19:667-678.
44. Korzus E., Rosenfeld M.G., Mayford M. CBP histone acetyltransferase activity is a critical component of memory consolidation. Neuron 2004, 42:961-972.
45. Kramer J.M., van Bokhoven H. Genetic and epigenetic defects in mental retardation. International Journal of Biochemistry and Cell Biology 2009, 41:96-107.
46. Kubicek S., O'Sullivan R.J., August E.M., Hickey E.R., Zhang Q., Teodoro M.L., et al. Reversal of H3K9me2 by a small-molecule inhibitor for the G9a histone methyltransferase. Molecular Cell 2007, 25:473-481.
47. Lan F., Collins R.E., De Cegli R., Alpatov R., Horton J.R., Shi X., et al. Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression. Nature 2007, 448:718-722.
48. LaSalle J.M. The odyssey of MeCP2 and parental imprinting. Epigenetics 2007, 2:5-10.
49. Lofton-Day C., Model F., Devos T., Tetzner R., Distler J., Schuster M., et al. DNA methylation biomarkers for blood-based colorectal cancer screening. Clinical Chemistry 2008, 54:414-423.
50. Maezawa I., Swanberg S., Harvey D., LaSalle J.M., Jin L.W. Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. Journal of Neuroscience 2009, 29:5051-5061.
51. Mangelsdorf M., Chevrier E., Mustonen A., Picketts D.J. Borjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene. Journal of Child Neurology 2009, 24:610-614.
52. Matarazzo V., Cohen D., Palmer A.M., Simpson P.J., Khokhar B., Pan S.J., et al. The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. Molecular and Cellular Neurosciences 2004, 27:44-58.
53. Monteggia L.M., Kavalali E.T. Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission. Biological Psychiatry 2009, 65:204-210.
54. Musselman C.A., Kutateladze T.G. PHD fingers: Epigenetic effectors and potential drug targets. Molecular Intervention 2009, 9:314-323.
55. Old R.W., Crea F., Puszyk W., Hulten M.A. Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reproductive Biomedicine Online 2007, 15:227-235.
56. Ooi S.K., Qiu C., Bernstein E., Li K., Jia D., Yang Z., et al. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. Nature 2007, 448:714-717.
57. Patterson D. Folate metabolism and the risk of Down syndrome. Down Syndrome Research and Practice 2008, 12:93-97.
58. Patterson D. Molecular genetic analysis of Down syndrome. Human Genetics 2009, 126:195-214.
59. Ramocki M.B., Peters S.U., Tavyev Y.J., Zhang F., Carvalho C.M., Schaaf C.P., et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology 2009, 66:771-782.
60. Ray J.G., Meier C., Vermeulen M.J., Cole D.E., Wyatt P.R. Prevalence of trisomy 21 following folic acid food fortification. American Journal of Medical Genetics A 2003, 120A:309-313.
61. Reik W., Walter J. Genomic imprinting: Parental influence on the genome. Nature Reviews Genetics 2001, 2:21-32.
62. Shi X., Hong T., Walter K.L., Ewalt M., Michishita E., Hung T., et al. ING2 PHD domain links histone H3 lysine 4 methylation to active gene repression. Nature 2006, 442:96-99.
63. Steyaert J., Borghgraef M., Legius E., Fryns J.P. Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene. American Journal of Medical Genetics 1996, 64:274-277.
64. Strahl B.D., Allis C.D. The language of covalent histone modifications. Nature 2000, 403:41-45.
65. Tong Y.K., Jin S., Chiu R.W., Ding C., Chan K.C., Leung T.Y., et al. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clinical Chemistry 2010, 56:90-98.
66. Tuck-Muller C.M., Narayan A., Tsien F., Smeets D.F., Sawyer J., Fiala E.S., et al. DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients. Cytogenetics and Cell Genetics 2000, 89:121-128.
67. Tudor M., Akbarian S., Chen R.Z., Jaenisch R. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proceedings of the National Academy of Sciences of the United States of America 2002, 99:15536-15541.
68. Tzschach A., Lenzner S., Moser B., Reinhardt R., Chelly J., Fryns J.P., et al. Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 2006, 27:389.
69. Urdinguio R.G., Sanchez-Mut J.V., Esteller M. Epigenetic mechanisms in neurological diseases: Genes, syndromes, and therapies. Lancet Neurology 2009, 8:1056-1072.
70. Vecsey C.G., Hawk J.D., Lattal K.M., Stein J.M., Fabian S.A., Attner M.A., et al. Histone deacetylase inhibitors enhance memory and synaptic plasticity via CREB:CBP-dependent transcriptional activation. Journal of Neuroscience 2007, 27:6128-6140.
71. Wysocka J., Swigut T., Xiao H., Milne T.A., Kwon S.Y., Landry J., et al. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. Nature 2006, 442:86-90.
72. Yasui D.H., Peddada S., Bieda M.C., Vallero R.O., Hogart A., Nagarajan R.P., et al. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:19416-19421.
73. Young J.I., Hong E.P., Castle J.C., Crespo-Barreto J., Bowman A.B., Rose M.F., et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proceedings of the National Academy of Sciences of the United States of America 2005, 102:17551-17558.
74. Zoghbi H.Y. MeCP2 dysfunction in humans and mice. Journal of Child Neurology 2005, 20:736-740.