Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons

Stem Cells

Volumn 30, Issue 10, 2012, Pages 2128-2139

  Yazdani, Morteza ^a   Deogracias, Rubén ^a   Guy, Jacky ^b   Poot, Raymond A ^c   Bird, Adrian ^b   Barde, Yves Alain ^a  

^a UNIVERSITY OF BASEL   (Switzerland)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Astrocytes; Brain derived neurotrophic factor; Nuclear size; Rett syndrome; Synaptophysin; Transcription

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; METHYL CPG BINDING PROTEIN 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; EMBRYONIC STEM CELL; FEMALE; GENE EXPRESSION; GENETIC TRANSCRIPTION; MALE; MOUSE; NERVE CELL; NERVE CELL DIFFERENTIATION; NONHUMAN; NUCLEAR SIZE; PHENOTYPE; RETT SYNDROME; RNA SYNTHESIS;

ANIMALS; BRAIN; BRAIN-DERIVED NEUROTROPHIC FACTOR; CELL DIFFERENTIATION; CELL NUCLEUS SIZE; CELLS, CULTURED; DISEASE MODELS, ANIMAL; EMBRYONIC STEM CELLS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC VECTORS; HUMANS; LENTIVIRUS; METHYL-CPG-BINDING PROTEIN 2; MICE; MICE, KNOCKOUT; NEURONS; RETT SYNDROME; RNA, MESSENGER; TRANSCRIPTION, GENETIC; TRANSFECTION;

MUS;

EID: 84866647783     PISSN: 10665099     EISSN: None     Source Type: Journal    
DOI: 10.1002/stem.1180     Document Type: Article

References (39)

1. Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 1966;116:723-726.
2. Chahrour M, Zoghbi HY. The story of Rett syndrome: From clinic to neurobiology. Neuron 2007;56:422-437.
3. Amir RE, Van den Veyver IB, Wan M et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188.
4. Guy J, Hendrich B, Holmes M et al. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001;27:322-326.
5. Chen RZ, Akbarian S, Tudor M et al. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001;27:327-331.
6. Guy J, Gan J, Selfridge J et al. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007;315:1143-1147.
7. Giacometti E, Luikenhuis S, Beard C et al. Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci USA 2007;104:1931-1936.
8. Skene PJ, Illingworth RS, Webb S et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell 2010;37:457-468.
9. Ben-Shachar S, Chahrour M, Thaller C et al. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet 2009;18:2431-2442.
10. Chahrour M, Jung SY, Shaw C et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008;320:1224-1229.
11. Thomas JO, Thompson RJ. Variation in chromatin structure in two cell types from the same tissue: A short DNA repeat length in cerebral cortex neurons. Cell 1977;10:633-640.
12. Bibel M, Richter J, Schrenk K et al. Differentiation of mouse embryonic stem cells into a defined neuronal lineage. Nat Neurosci 2004;7:1003-1009.
13. Bibel M, Richter J, Lacroix E et al. Generation of a defined and uniform population of CNS progenitors and neurons from mouse embryonic stem cells. Nat Protoc 2007;2:1034-1043.
14. Samaco RC, Fryer JD, Ren J et al. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet 2008;17:1718-1727.
15. Gascon S, Paez-Gomez JA, Diaz-Guerra M et al. Dual-promoter lentiviral vectors for constitutive and regulated gene expression in neurons. J Neurosci Methods 2008;168:104-112.
16. Kriaucionis S, Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 2004;32:1818-1823.
17. Kerr B, Soto CJ, Saez M et al. Transgenic complementation of MeCP2 deficiency: Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur J Hum Genet 2012;20:69-76.
18. Thompson RJ. Studies on RNA synthesis in two populations of nuclei from the mammalian cerebral cortex. J Neurochem 1973;21:19-40.
19. Rauskolb S, Zagrebelsky M, Dreznjak A et al. Global deprivation of brain-derived neurotrophic factor in the CNS reveals an area-specific requirement for dendritic growth. J Neurosci 2010;30:1739-1749.
20. Marchetto MC, Carromeu C, Acab A et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 2010;143:527-539.
21. Ananiev G, Williams EC, Li H et al. Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS One 2011;6:e25255.
22. Cheung AY, Horvath LM, Grafodatskaya D et al. Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet 2011;20:2103-2115.
23. Kim KY, Hysolli E, Park IH. Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proc Natl Acad Sci USA 2011;108:14169-14174.
24. Farra N, Zhang WB, Pasceri P et al. Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. Mol Psychiatry 2012 [Epub ahead of print].
25. Mekhoubad S, Bock C, de Boer AS et al. Erosion of dosage compensation impacts human iPSC disease modeling. Cell Stem Cell 2012;10:595-609.
26. Cheung AY, Horvath LM, Carrel L et al. X-Chromosome inactivation in Rett syndrome human induced pluripotent stem cells. Front Psychiatry 2012;3:24.
27. Maezawa I, Jin LW. Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. J Neurosci 2010;30:5346-5356.
28. Maezawa I, Swanberg S, Harvey D et al. Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci 2009;29:5051-5061.
29. Ballas N, Lioy DT, Grunseich C et al. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 2009;12:311-317.
30. Lioy DT, Garg SK, Monaghan CE et al. A role for glia in the progression of Rett's syndrome. Nature 2011;475:497-500.
31. Sato S, Burgess SB, McIlwain DL. Transcription and motoneuron size. J Neurochem 1994;63:1609-1615.
32. Schmidt EE, Schibler U. Cell size regulation, a mechanism that controls cellular RNA accumulation: Consequences on regulation of the ubiquitous transcription factors Oct1 and NF-Y and the liver-enriched transcription factor DBP. J Cell Biol 1995;128:467-483.
33. Trinkle-Mulcahy L, Lamond AI. Nuclear functions in space and time: Gene expression in a dynamic, constrained environment. FEBS Lett 2008;582:1960-1970.
34. Zink D, Fischer AH, Nickerson JA. Nuclear structure in cancer cells. Nat Rev Cancer 2004;4:677-687.
35. Shen X, Yu L, Weir JW et al. Linker histones are not essential and affect chromatin condensation in vivo. Cell 1995;82:47-56.
36. Nikitina T, Ghosh RP, Horowitz-Scherer RA et al. MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome. J Biol Chem 2007;282:28237-28245.
37. Singleton MK, Gonzales ML, Leung KN et al. MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. Neurobiol Dis 2011;43:190-200.
38. Chang Q, Khare G, Dani V et al. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 2006;49:341-348.
39. Matsumoto T, Rauskolb S, Polack M et al. Biosynthesis and processing of endogenous BDNF: CNS neurons store and secrete BDNF, not pro-BDNF. Nat Neurosci 2008;11:131-133.