Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Abstract
The discovery that Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder. Animal models and expression studies have contributed to defining the role of MeCP2 in development, highlighting its contribution to postnatal neuronal morphogenesis and function. Furthermore, in vitro assays and microrray studies have delineated the potential molecular mechanisms of MeCP2 function, and have indicated a role in the transcriptional silencing of specific target genes. As well as unravelling the mechanisms that underlie Rett syndrome, these studies provide more general insights into how DNA-methylation patterns are recognized and translated into biological outcomes.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Rett syndrome disease may be ameliorated or even reversed by genetic or pharmacological means after symptom onset.
“These findings suggest that the disease may be ameliorated or even reversed by genetic or pharmacological means after symptom onset2,7.”
From A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome (2013) · cites this paper as [2]
Cites
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent <i>Bdnf</i> Gene Regulation
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405 · see citing works
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275 · see citing works
Brain-Derived Neurotrophic Factor Is Required for the Maintenance of Cortical Dendrites
Gorski, J. A., Zeiler, S. R., Tamowski, S., & Jones, K. R. (2003) · The Journal of Neuroscience · doi:10.1523/jneurosci.23-17-06856.2003 · Cited by 411 · see citing works
Chromatin Compaction by Human MeCP2
Georgel, P. T., Horowitz-Scherer, R. A., Adkins, N., Woodcock, C. L., Wade, P. A., & Hansen, J. C. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m305308200 · Cited by 305 · see citing works
Armstrong, D. D., Dunn, K., & Antalffy, B. (1998) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199811000-00003 · Cited by 137 · cited 1× · see citing works
“Expression studies also indicate that MeCP2 is involved in the differentiation of neuronal cells, including dendritic arborization and the development and maintenance of dendritic spines , rather than in cell-fate decision”
Flagged first, then by citations
Cited by
Sorted by citations
Phenotypic plasticity and the epigenetics of human disease
Feinberg, A. P. (2007) · Nature · doi:10.1038/nature05919 · Cited by 1,613 · see citing works
Zhou, Z., Hong, E. J., Cohen, S., Zhao, W.-N., Ho, H.-Y. H., Schmidt, L., Chen, W. G., Lin, Y., Savner, E., Griffith, E. C., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.037 · Cited by 877 · see citing works
Methyl-cpG-binding domain proteins: readers of the epigenome
Du, Q., Luu, P.-L., Stirzaker, C., & Clark, S. J. (2015) · Epigenomics · doi:10.2217/epi.15.39 · Cited by 544 · see citing works
Neuronal Activity-Regulated Gene Transcription in Synapse Development and Cognitive Function
West, A. E., & Greenberg, M. E. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a005744 · Cited by 532 · see citing works
Cross talk between microRNA and epigenetic regulation in adult neurogenesis
Szulwach, K. E., Li, X., Smrt, R. D., Li, Y., Luo, Y., Lin, L., Santistevan, N. J., Li, W., Zhao, X., & Jin, P. (2010) · Journal of Cell Biology · doi:10.1083/jcb.200908151 · Cited by 493 · see citing works
Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons
Smrt, R. D., Eaves-Egenes, J., Barkho, B. Z., Santistevan, N. J., Zhao, C., Aimone, J. B., Gage, F. H., & Zhao, X. (2007) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.04.005 · Cited by 239 · see citing works
Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
Goffin, D., Allen, M., Zhang, L., Amorim, M., Wang, I.-T. J., Reyes, A.-R. S., Mercado-Berton, A., Ong, C., Cohen, S., Hu, L., et al. (2012) · Nature Neuroscience · doi:10.1038/nn.2997 · Cited by 226 · see citing works
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Buchovecky, C. M., Turley, S. D., Brown, H. M., Kyle, S. M., McDonald, J. G., Liu, B., Pieper, A. A., Huang, W., Katz, D. M., Russell, D. W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2714 · Cited by 234 · see citing works
Kondo, M., Gray, L. J., Pelka, G. J., Christodoulou, J., Tam, P. P. L., & Hannan, A. J. (2008) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2008.06305.x · Cited by 190 · see citing works
Association of DNA methylation differences with schizophrenia in an Epigenome-Wide association study
Montano, C., Taub, M. A., Jaffe, A., Briem, E., Feinberg, J. I., Trygvadottir, R., Idrizi, A., Runarsson, A., Berndsen, B., Gur, R. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.0144 · Cited by 180 · see citing works
DNA methylation impacts on learning and memory in aging
Liu, L., van Groen, T., Kadish, I., & Tollefsbol, T. O. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.07.020 · Cited by 152 · see citing works
MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex
Kyle, S. M., Saha, P. K., Brown, H. M., Chan, L. C., & Justice, M. J. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw156 · Cited by 84 · see citing works
James, S. J., Shpyleva, S., Melnyk, S., Pavliv, O., & Pogribny, I. P. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.87 · Cited by 79 · see citing works
The planar polarity protein Scribble1 is essential for neuronal plasticity and brain function
Moreau, M. M., Piguel, N., Papouin, T., Koehl, M., Durand, C. M., Rubio, M. E., Loll, F., Richard, E. M., Mazzocco, C., Racca, C., et al. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.6007-09.2010 · Cited by 69 · see citing works
Reversibility of functional deficits in experimental models of Rett syndrome
Cobb, S., Guy, J., & Bird, A. (2010) · Biochemical Society Transactions · doi:10.1042/bst0380498 · Cited by 67 · see citing works
Enhanced Hypoxia Susceptibility in Hippocampal Slices From a Mouse Model of Rett Syndrome
Fischer, M., Reuter, J., Gerich, F. J., Hildebrandt, B., Hägele, S., Katschinski, D., & Müller, M. (2009) · Journal of Neurophysiology · doi:10.1152/jn.91124.2008 · Cited by 65 · see citing works
Justice, M. J., Buchovecky, C. M., Kyle, S. M., & Djukic, A. (2013) · Rare Diseases · doi:10.4161/rdis.27265 · Cited by 61 · see citing works
- Authors
- Bienvenu, T., & Chelly, J.
- Affiliations
- Institut Cochin (FR)
- Inserm (FR)
- Corresponding author
- Chelly, Jamel
- Venue
- Nature Reviews Genetics
- Published
- 2006-06-01
- Volume
- 7
- Issue
- 6
- Pages
- 415-426
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W1993852989
- Cited by
- 289
- References
- 5
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 4 · 2022: 7 · 2021: 9 · 2020: 6 · 2019: 12 · 2018: 12 · 2017: 18 · 2016: 13 · 2015: 20 · 2014: 20 · 2013: 21 · 2012: 26
- FWCI
- 2.51
- Type
- journal article
- Language
- en
- Update notices
- erratum (2006-07-01)
- Open access
- closed
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- European Commission
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Rett syndrome, MeCP2, DNA methylation, methyl-CpG binding proteins, neurodevelopmental disorders, transcriptional silencing, neuronal morphogenesis, epigenetics, disease phenotypes
- MeSH terms
- Gene Expression Regulation, Humans, Rett Syndrome, DNA Methylation, Methyl-CpG-Binding Protein 2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
