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From neural development to cognition: unexpected roles for chromatin
Open accessAbstract
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have uncovered mutations in many chromatin regulators. These human genetic studies, along with studies in model organisms, are providing insight into chromatin regulatory mechanisms in neural development and how alterations to these mechanisms can cause cognitive deficits, such as intellectual disability. We discuss several implicated chromatin regulators, including BAF (also known as SWI/SNF) and CHD8 chromatin remodellers, HDAC4 and the Polycomb component EZH2. Interestingly, mutations in EZH2 and certain BAF complex components have roles in both neurodevelopmental disorders and cancer, and overlapping point mutations are suggesting functionally important residues and domains. We speculate on the contribution of these similar mutations to disparate disorders.
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“By comparing these genes with genes that cause intellectual disability, this study identified molecular processes that are preferentially disrupted by ASD risk genes, including transcriptional regulation, chromatin regulation and synaptic development, and it identified disruption of specific pathways, such as BAF (SWI/ SNF) complex-mediated neuronal development 30,110,111.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [110]
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“These ATP-dependent chromatin remodelling complexes consist of 15 subunits, including one of both ATPase core subunits SMARCA4 or SMARCA237.”
From A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP (2014) · cites this paper as [37]
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An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Jenuwein, T., & Allis, C. D. (2001) · Science · doi:10.1126/science.1063127 · Cited by 9,756
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951
Functions of DNA methylation: islands, start sites, gene bodies and beyond
Jones, P. A. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3230 · Cited by 6,061
Chen, X., Xiu, M., Xing, J., Yu, S., Min, D., & Guo, F. (2017) · Cellular Physiology and Biochemistry · doi:10.1159/000479439 · Cited by 5,760
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Genome-wide maps of chromatin state in pluripotent and lineage-committed cells
Mikkelsen, T. S., Ku, M., Jaffe, D. B., Issac, B., Lieberman, E., Giannoukos, G., Alvarez, P., Brockman, W., Kim, T.-K., Koche, R. P., et al. (2007) · Nature · doi:10.1038/nature06008 · Cited by 4,129
Histone demethylation mediated by the nuclear amine oxidase homolog LSD1
Shi, Y., Lan, F., Matson, C., Mulligan, P., Whetstine, J. R., Cole, P. A., Casero, R. A., & Shi, Y. (2004) · Cell · doi:10.1016/j.cell.2004.12.012 · Cited by 4,051
Epigenetics in human disease and prospects for epigenetic therapy
Egger, G., Liang, G., Aparicio, A., & Jones, P. A. (2004) · Nature · doi:10.1038/nature02625 · Cited by 3,232
Polycomb complexes repress developmental regulators in murine embryonic stem cells
Boyer, L. A., Plath, K., Zeitlinger, J., Brambrink, T., Medeiros, L. A., Lee, T. I., Levine, S. S., Wernig, M., Tajonar, A., Ray, M. K., et al. (2006) · Nature · doi:10.1038/nature04733 · Cited by 2,568
Genome-scale DNA methylation maps of pluripotent and differentiated cells
Meissner, A., Mikkelsen, T. S., Gu, H., Wernig, M., Hanna, J., Sivachenko, A., Zhang, X., Bernstein, B. E., Nusbaum, C., Jaffe, D. B., et al. (2008) · Nature · doi:10.1038/nature07107 · Cited by 2,536
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
Kriks, S., Shim, J., Piao, J., Ganat, Y. M., Wakeman, D. R., Xie, Z., Carrillo‐Reid, L., Auyeung, G., Antonacci, C. L., Buch, A., et al. (2011) · Nature · doi:10.1038/nature10648 · Cited by 1,951
Experience-dependent structural synaptic plasticity in the mammalian brain
Holtmaat, A., & Svoboda, K. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2699 · Cited by 1,934
A Mammalian Histone Deacetylase Related to the Yeast Transcriptional Regulator Rpd3p
Taunton, J., Hassig, C. A., & Schreiber, S. L. (1996) · Science · doi:10.1126/science.272.5260.408 · Cited by 1,829
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas
Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1008433 · Cited by 1,712
HDAC2 negatively regulates memory formation and synaptic plasticity
Guan, J.-S., Haggarty, S. J., Giacometti, E., Dannenberg, J.-H., Joseph, N., Gao, J., Nieland, T. J. F., Zhou, Y., Wang, X., Mazitschek, R., et al. (2009) · Nature · doi:10.1038/nature07925 · Cited by 1,644
Kadoch, C., Hargreaves, D. C., Hodges, H. C., Elias, L., Ho, L., Ranish, J. A., & Crabtree, G. R. (2013) · Nature Genetics · doi:10.1038/ng.2628 · Cited by 1,493
Self-citationRegulation of Cerebral Cortical Size by Control of Cell Cycle Exit in Neural Precursors
Chenn, A., & Walsh, C. A. (2002) · Science · doi:10.1126/science.1074192 · Cited by 1,431
Modelling schizophrenia using human induced pluripotent stem cells
Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., et al. (2011) · Nature · doi:10.1038/nature09915 · Cited by 1,375
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Ng, S. B. H., Bigham, A. W., Buckingham, K. J., Hannibal, M., McMillin, M. J., Gildersleeve, H. I. S., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,349
Genome-wide mapping of HATs and HDACs reveals distinct functions in active and inactive genes
Wang, Z., Zang, C., Cui, K., Schones, D. E., Barski, A., Peng, W., & Zhao, K. (2009) · Cell · doi:10.1016/j.cell.2009.06.049 · Cited by 1,344
Role of the polycomb protein EED in the propagation of repressive histone marks
Margueron, R., Justin, N., Ohno, K., Sharpe, M. L., Son, J., Drury, W. J., Voigt, P., Martin, S. R., Taylor, W. R., Marco, V. D., et al. (2009) · Nature · doi:10.1038/nature08398 · Cited by 1,281
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Vissers, L. E. L. M., van Ravenswaaij‐Arts, C. M. A., Admiraal, R. J. C., Hurst, J. A., Vries, B. B. A. D., Janssen, I. M., van der Vliet, W. A., Huys, E., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,281
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature · doi:10.1038/376348a0 · Cited by 1,217
Chromatin remodelling during development
Ho, L., & Crabtree, G. R. (2010) · Nature · doi:10.1038/nature08911 · Cited by 1,114
Self-citationBrault, V., Moore, R., Kutsch, S., Ishibashi, M., Rowitch, D. H., McMahon, A. P., Sommer, L., Boussadia, O., & Kemler, R. (2001) · Development · doi:10.1242/dev.128.8.1253 · Cited by 1,076
Direct generation of functional dopaminergic neurons from mouse and human fibroblasts
Caiazzo, M., Dell’Anno, M. T., Dvoretskova, E., Lazarević, D., Taverna, S., Leo, D., Sotnikova, T. D., Menegon, A., Roncaglia, P., Colciago, G., et al. (2011) · Nature · doi:10.1038/nature10284 · Cited by 1,029
MicroRNA-mediated conversion of human fibroblasts to neurons
Yoo, A. S., Sun, A. X., Li, L., Shcheglovitov, A., Portmann, T., Li, Y., Lee-Messer, C., Dolmetsch, R. E., Tsien, R. W., & Crabtree, G. R. (2011) · Nature · doi:10.1038/nature10323 · Cited by 989
Self-citationTamkun, J. W., Deuring, R., Scott, M. P., Kissinger, M., Pattatucci, A. M. L., Kaufman, T. C., & Kennison, J. A. (1992) · Cell · doi:10.1016/0092-8674(92)90191-e · Cited by 988
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
ATP-dependent chromatin remodeling: genetics, genomics and mechanisms
Hargreaves, D. C., & Crabtree, G. R. (2011) · Cell Research · doi:10.1038/cr.2011.32 · Cited by 923
Self-citationThe Polycomb-Group GeneEzh2 Is Required for Early Mouse Development
O’Carroll, D., Erhardt, S., Pagani, M., Barton, S. C., Surani, M. A., & Jenuwein, T. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.13.4330-4336.2001 · Cited by 908
Vecsey, C. G., Hawk, J. D., Lattal, K. M., Stein, J. M., Fabian, S., Attner, M. A., Cabrera, S. M., McDonough, C. B., Brindle, P. K., Abel, T. G., et al. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.0296-07.2007 · Cited by 854
Chromatin Compaction by a Polycomb Group Protein Complex
Francis, N. J., Kingston, R. E., & Woodcock, C. L. F. (2004) · Science · doi:10.1126/science.1100576 · Cited by 841
A Brg1 Null Mutation in the Mouse Reveals Functional Differences among Mammalian SWI/SNF Complexes
Bultman, S. J., Gebuhr, T., Yee, D., LaMantia, C., Nicholson, J., Gilliam, A. C., Randazzo, F. M., METZGER, D., Chambon, P., Crabtree, G. R., et al. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00127-1 · Cited by 824
Self-citationCBP Histone Acetyltransferase Activity Is a Critical Component of Memory Consolidation
Korzus, E., Rosenfeld, M. G., & Mayford, M. (2004) · Neuron · doi:10.1016/j.neuron.2004.06.002 · Cited by 823
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
Epigenetic mechanisms in memory formation
Levenson, J. M., & Sweatt, J. D. (2005) · Nature Reviews Neuroscience · doi:10.1038/nrn1604 · Cited by 767
A model for transmission of the H3K27me3 epigenetic mark
Hansen, K. H., Bracken, A. P., Pasini, D., Dietrich, N., Gehani, S. S., Monrad, A., Rappsilber, J., Lerdrup, M., & Helin, K. (2008) · Nature Cell Biology · doi:10.1038/ncb1787 · Cited by 748
Lessard, J., Wu, J. I., Ranish, J. A., Wan, M., Winslow, M. M., Staahl, B. T., Wu, H., Aebersold, R., Graef, I. A., & Crabtree, G. R. (2007) · Neuron · doi:10.1016/j.neuron.2007.06.019 · Cited by 735
Self-citationThe role of mutations in epigenetic regulators in myeloid malignancies
Shih, A. H., Abdel-Wahab, O. I., Patel, J. P., & Levine, R. L. (2012) · Nature reviews. Cancer · doi:10.1038/nrc3343 · Cited by 696
Postnatal neurodevelopmental disorders: meeting at the synapse?
Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691
Epigenetic Antagonism between Polycomb and SWI/SNF Complexes during Oncogenic Transformation
Wilson, B. G., Wang, X., Shen, X., McKenna, E. S., Lemieux, M. E., Cho, Y., Koellhoffer, E. C., Pomeroy, S. L., Orkin, S. H., & Roberts, C. W. M. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.09.006 · Cited by 671
MicroRNA-mediated switching of chromatin-remodelling complexes in neural development
Yoo, A. S., Staahl, B. T., Chen, L., & Crabtree, G. R. (2009) · Nature · doi:10.1038/nature08139 · Cited by 645
Self-citationThe Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers
Shain, A. H., & Pollack, J. R. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055119 · Cited by 601
Histone Methylation Regulates Memory Formation
Gupta, S., Kim, S. Y., Artis, S., Molfese, D. L., Schumacher, A., Sweatt, J. D., Paylor, R. E., & Lubin, F. D. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3732-09.2010 · Cited by 585
Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577
Ho, L., Ronan, J. L., Wu, J. I., Staahl, B. T., Chen, L., Kuo, A., Lessard, J. A., Nesvizhskii, A. I., Ranish, J. A., & Crabtree, G. R. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812889106 · Cited by 576
Self-citationUnraveling the hidden catalytic activity of vertebrate class IIa histone deacetylases
Lahm, A., Paolini, C., Pallaoro, M., Nardi, M. C., Jones, P., Neddermann, P., Sambucini, S., Bottomley, M. J., Lo Surdo, P., Carfı́, A., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0706487104 · Cited by 566
βCatenin Signaling Activity Dissected in the Early Xenopus Embryo: A Novel Antisense Approach
Heasman, J., Kofron, M. J., & Wylie, C. (2000) · Developmental Biology · doi:10.1006/dbio.2000.9720 · Cited by 523
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi‐Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., et al. (2012) · Nature Genetics · doi:10.1038/ng.2219 · Cited by 518
Epigenetic mechanisms in cognition
Day, J. J., & Sweatt, J. D. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.019 · Cited by 510
Guan, Z., Giustetto, M., Lomvardas, S., Kim, J.-H., Miniaci, M. C., Schwartz, J. H., Thanos, D., & Kandel, E. R. (2002) · Cell · doi:10.1016/s0092-8674(02)01074-7 · Cited by 497
Roelfsema, J. H., White, S. J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G. B., Breuning, M. H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429130 · Cited by 487
Histone modification: cause or cog?
Henikoff, S., & Shilatifard, A. (2011) · Trends in Genetics · doi:10.1016/j.tig.2011.06.006 · Cited by 482
ARID1A Mutations in Cancer: Another Epigenetic Tumor Suppressor?
Wu, J. N., & Roberts, C. W. M. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-12-0361 · Cited by 465
Pereira, J. D., Sansom, S. N., Smith, J. C., Dobenecker, M., Tarakhovsky, A., & Livesey, F. J. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002530107 · Cited by 465
Hirabayashi, Y., Suzki, N., Tsuboi, M., Endo, T. A., Toyoda, T., Shinga, J., Koseki, H., Vidal, M., & Gotoh, Y. (2009) · Neuron · doi:10.1016/j.neuron.2009.08.021 · Cited by 462
The chromatin remodelling factor Brg‐1 interacts with β‐catenin to promote target gene activation
Barker, N., Hurlstone, A., Musisi, H., Miles, A. J., Bienz, M., & Clevers, H. (2001) · EMBO Journal · doi:10.1093/emboj/20.17.4935 · Cited by 461
Epigenetic mechanisms in neurological disease
Jakovcevski, M., & Akbarian, S. (2012) · Nature Medicine · doi:10.1038/nm.2828 · Cited by 450
Dynamics and Memory of Heterochromatin in Living Cells
Hathaway, N. A., Bell, O., Hodges, C., Miller, E. L., Neel, D. S., & Crabtree, G. R. (2012) · Cell · doi:10.1016/j.cell.2012.03.052 · Cited by 446
Self-citationFlavell, S. W., Kim, T.-K., Gray, J. M., Harmin, D. A., Hemberg, M., Hong, E. J., Markenscoff-Papadimitriou, E., Bear, D. M., & Greenberg, M. E. (2008) · Neuron · doi:10.1016/j.neuron.2008.11.029 · Cited by 440
Klochendler‐Yeivin, A., Fiette, L., Barra, J., Muchardt, C., Babinet, C., & Yaniv, M. (2000) · EMBO Reports · doi:10.1093/embo-reports/kvd129 · Cited by 405
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
Ramocki, M. B., & Zoghbi, H. Y. (2008) · Nature · doi:10.1038/nature07457 · Cited by 399
Regulation of Dendritic Development by Neuron-Specific Chromatin Remodeling Complexes
Wu, J. I., Lessard, J. A., Olave, I. A., Qiu, Z., Ghosh, A., Graef, I. A., & Crabtree, G. R. (2007) · Neuron · doi:10.1016/j.neuron.2007.08.021 · Cited by 398
Self-citationKleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A. C., Geneviève, D., Cormier‐Daire, V., Esch, H. V., Fryns, J., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505693 · Cited by 395
Genetic and Epigenetic Networks in Intellectual Disabilities
van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382
Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373
Polycomb Repressive Complex 2 Is Dispensable for Maintenance of Embryonic Stem Cell Pluripotency
Chamberlain, S. J., Yee, D., & Magnuson, T. (2008) · Stem Cells · doi:10.1634/stemcells.2008-0102 · Cited by 350
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, G. W. E., Aten, E., Sun, Y., Almomani, R., Gilissen, C., Nielsen, M., Kant, S. G., Snoeck, I. N., Peeters, E. A. J., Hilhorst-Hofstee, Y., et al. (2012) · Nature Genetics · doi:10.1038/ng.2217 · Cited by 347
Mutations in EZH2 Cause Weaver Syndrome
Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R. A., Mungall, A. J. J., Eydoux, P., Babul‐Hirji, R., An, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.018 · Cited by 328
Williams, S. R., Aldred, M. A., Der Kaloustian, V. M., Halal, F., Gowans, G., McLeod, D. R., Zondag, S., Toriello, H. V., Magenis, R. E., & Elsea, S. H. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.011 · Cited by 302
MeCP2 dysfunction in Rett syndrome and related disorders
Moretti, P. M., & Zoghbi, H. Y. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.04.009 · Cited by 300
Iwase, S., Xiang, B., Ghosh, S., Ren, T., Lewis, P. W., Cochrane, J. C., Allis, C. D., Picketts, D. J., Patel, D. J., Li, H., et al. (2011) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2062 · Cited by 285
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, W. D., Dafou, D., McEntagart, M., Woollard, W. J., Elmslie, F., Holder‐Espinasse, M., Irving, M. D., Saggar, A. K., Smithson, S., Trembath, R. C., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.008 · Cited by 283
HDAC4 Governs a Transcriptional Program Essential for Synaptic Plasticity and Memory
Sando, R., Gounko, N., Pieraut, S., Liao, L., Yates, J., & Maximov, A. (2012) · Cell · doi:10.1016/j.cell.2012.09.037 · Cited by 274
Ho, L., Miller, E. L., Ronan, J. L., Ho, W. Q., Jothi, R., & Crabtree, G. R. (2011) · Nature Cell Biology · doi:10.1038/ncb2285 · Cited by 270
Self-citationDisruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W. M., Fencková, M., van den Akker, W. M. R., Kasri, N. N., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.003 · Cited by 264
Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.007 · Cited by 263
Zhang, C. L., McKinsey, T. A., & Olson, E. N. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.20.7302-7312.2002 · Cited by 247
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Houdt, J. K. J. V., Nowakowska, B., de Sousa, S. B., van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., van den Boogaard, M. H., Bottani, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.1105 · Cited by 239
An Essential Role for Histone Deacetylase 4 in Synaptic Plasticity and Memory Formation
Kim, M.-S., Akhtar, M. W., Adachi, M., Mahgoub, M., Bassel-Duby, R., Kavalali, E. T., Olson, E. N., & Monteggia, L. M. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.2089-12.2012 · Cited by 235
Froyen, G., Corbett, M. A., Vandewalle, J., Järvelä, I. E., Lawrence, O., Meldrum, C. J., Bauters, M., Govaerts, K., Vandeleur, L., Esch, H. V., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.002 · Cited by 233
The ups and downs of Wnt signaling in prevalent neurological disorders
Ferrari, G. V. D., & Moon, R. T. (2006) · Oncogene · doi:10.1038/sj.onc.1210064 · Cited by 227
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Laumonnier, F., Holbert, S., Ronce, N., Faravelli, F., Lenzner, S., Schwartz, C. E., Lespinasse, J., Esch, H. V., Lacombe, D., Goizet, C., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.029439 · Cited by 218
CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates β-Catenin Target Genes
Thompson, B. A., Tremblay, V., Lin, G., & Bochar, D. A. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.00322-08 · Cited by 208
CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
Nishiyama, M., Oshikawa, K., Tsukada, Y.-I., Nakagawa, T., Iemura, S.-I., Natsume, T., Fan, Y., Kikuchi, A., Skoultchi, A. I., & Nakayama, K. I. (2009) · Nature Cell Biology · doi:10.1038/ncb1831 · Cited by 206
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Risheg, H., Graham, J. M., Clark, R. D., Rogers, R. C., Opitz, J. M., Moeschler, J. B., Peiffer, A., May, M. M., Joseph, S., Jones, J. R., et al. (2007) · Nature Genetics · doi:10.1038/ng1992 · Cited by 199
Kim, J. K., Huh, S., Choi, H., Lee, K.-S., Shin, D., Lee, C., Nam, J., Kim, H., Chung, H., Lee, H. W., et al. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.22.7787-7795.2001 · Cited by 197
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Hannibal, M., Buckingham, K. J., Ng, S. B. H., Ming, J. E., Beck, A. E., McMillin, M. J., Gildersleeve, H. I. S., Bigham, A. W., Tabor, H. K., Mefford, H. C., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34074 · Cited by 194
Parrish, J. Z., Kim, M. D., Jan, L. Y., & Jan, Y. N. (2006) · Genes & Development · doi:10.1101/gad.1391006 · Cited by 192
Intracellular Trafficking of Histone Deacetylase 4 Regulates Neuronal Cell Death
Bolger, T. A., & Yao, T. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.1826-05.2005 · Cited by 190
Clayton‐Smith, J., O’Sullivan, J., Daly, S. B., Bhaskar, S. S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.10.008 · Cited by 184
Wnt signaling: multiple functions in neural development
Ille, F., & Sommer, L. (2005) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-005-4552-2 · Cited by 180
Histone Deacetylase 4 Possesses Intrinsic Nuclear Import and Export Signals
Wang, A. H., & Yang, X. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.17.5992-6005.2001 · Cited by 180
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
Schwartz, C. E., Tarpey, P. S., Lubs, H. A., Verloès, A., May, M. M., Risheg, H., Friez, M. J., Futreal, P. A., Edkins, S., Teague, J., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.048637 · Cited by 176
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
Tatton‐Brown, K., Hanks, S., Ruark, E., Zachariou, A., Duarte, S. D. V., Ramsay, E., Snape, K. M. G., Murray, A., Perdeaux, E. R., Seal, S., et al. (2011) · Oncotarget · doi:10.18632/oncotarget.385 · Cited by 170
ISWI Regulates Higher-Order Chromatin Structure and Histone H1 Assembly In Vivo
Corona, D. F. V., Siriaco, G., Armstrong, J. A., Snarskaya, N., McClymont, S., Scott, M. P., & Tamkun, J. W. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050232 · Cited by 155
ATP-dependent chromatin remodeling in neural development
Yoo, A. S. J., & Crabtree, G. R. (2009) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2009.04.006 · Cited by 150
Self-citationHalgren, C., Kjaergaard, S., Bak, M., Hansen, C. S., El-Schich, Z., Anderson, C., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E. K., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01755.x · Cited by 145
Genetic disorders associated with macrocephaly
Williams, C. A., Dagli, A. I., & Battaglia, A. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32434 · Cited by 145
Investigating synapse formation and function using human pluripotent stem cell-derived neurons
Kim, J., O’Sullivan, M. L., Sanchez, C. A., Hwang, M., Israel, M. A., Brennand, K., Deerinck, T. J., Goldstein, L. S. B., Gage, F. H., Ellisman, M. H., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1007753108 · Cited by 144
Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt–β-Catenin Signaling Pathway
Nishiyama, M., Skoultchi, A. I., & Nakayama, K. I. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.06409-11 · Cited by 141
MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression
Hashimoto, S., Boissel, S., Zarhrate, M., Rio, M., Münnich, A., Egly, J., & Colleaux, L. (2011) · Science · doi:10.1126/science.1206638 · Cited by 134
Modeling psychiatric disorders at the cellular and network levels
Brennand, K. J., Simone, A., Tran, N., & Gage, F. H. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.20 · Cited by 119
Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia
Koga, M., Ishiguro, H., Yazaki, S., Horiuchi, Y., Arai, M., Niizato, K., Iritani, S., Itokawa, M., Inada, T., Iwata, N., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp166 · Cited by 112
A Novel β-Catenin-binding Protein Inhibits β-Catenin-dependent Tcf Activation and Axis Formation
Sakamoto, I., Kishida, S., Fukui, A., Kishida, M., Yamamoto, H., Hino, S.-I., Michiue, T., Takada, S., Asashima, M., & Kikuchi, A. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m004089200 · Cited by 106
Ooi, L., Belyaev, N. D., Miyake, K., Wood, I. C., & Buckley, N. J. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605370200 · Cited by 105
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Mehler, M. F. (2008) · Annals of Neurology · doi:10.1002/ana.21595 · Cited by 101
Components of the SWI/SNF Complex Are Required for Asymmetric Cell Division in C. elegans
Sawa, H., Kouike, H., & Okano, H. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00060-5 · Cited by 95
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Kramer, J. M., & van Bokhoven, H. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.08.009 · Cited by 91
Brawn for Brains: The Role of MEF2 Proteins in the Developing Nervous System
Shalizi, A., & Bonni, A. (2005) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(05)69009-6 · Cited by 86
Loe-Mie, Y., Lepagnol-Bestel, A.-M., Maussion, G., Doron‐Faigenboim, A., Imbeaud, S., Delacroix, H., Aggerbeck, L. P., Pupko, T., Gorwood, P. A. P. M., Simonneau, M., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq184 · Cited by 86
Koivisto, A. M., Ala‐Mello, S., Lemmelä, S. M., Komu, H., Rautio, J., & Järvelä, I. E. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00836.x · Cited by 85
Kim, H., Kim, H.-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.005 · Cited by 79
Chan, J. K. L., Sun, L., Yang, X., Zhu, G., & Wu, Z. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m301922200 · Cited by 79
Giedd, J. N. (1999) · American Journal of Psychiatry · doi:10.1176/ajp.156.1.4 · Cited by 71
Backx, L., Seuntjens, E., Devriendt, K., Vermeesch, J. R., & Esch, H. V. (2010) · Cytogenetic and Genome Research · doi:10.1159/000321577 · Cited by 68
Li, X., Han, Y., & Xi, R. (2010) · Genes & Development · doi:10.1101/gad.1901510 · Cited by 62
Wolff, D., Endele, S. U., Azzarello-Burri, S. M., Hoyer, J., Zweier, M., Schanze, I., Schmitt, B., Rauch, A. M., Reis, A., & Zweier, C. (2011) · Molecular Syndromology · doi:10.1159/000337323 · Cited by 61
Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes
Cohen, M. M. (2003) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.10013 · Cited by 52
Tea, J. S., & Luo, L. (2011) · Neural Development · doi:10.1186/1749-8104-6-5 · Cited by 51
Morris, B. L., Étoubleau, C., Bourthoumieu, S., Reynaud‐Perrine, S., Laroche, C., Lebbar, A., Yardin, C., & Elsea, S. H. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35463 · Cited by 43
Shibata, Y., Uchida, M., Takeshita, H., Nishiwaki, K., & Sawa, H. (2011) · Developmental Biology · doi:10.1016/j.ydbio.2011.10.035 · Cited by 24
Histone modification defects in developmental disorders and cancer
Cross, N. C. P. (2012) · Oncotarget · doi:10.18632/oncotarget.436 · Cited by 20
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1 of the 130 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- Allis, C. D., Jenuwein, T. & Reinberg, D. Epigenetics (Cold Spring Harbor Laboratory Press, 2007).
- Kadoch, C., Hargreaves, D. Hodges, C. & Crabtree, G. R. Nature Genet. (in the press).
Cited by
Sorted by citations
Synaptic, transcriptional and chromatin genes disrupted in autism
Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Parikshak, N. N., Luo, R., Zhang, A., Won, H., Lowe, J. K., Chandran, V., Horvath, S., & Geschwind, D. H. (2013) · Cell · doi:10.1016/j.cell.2013.10.031 · Cited by 1,039
Metabolic regulation of gene expression through histone acylations
Sabari, B. R., Zhang, D., Allis, C. D., & Zhao, Y. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2016.140 · Cited by 1,168
Advancing the understanding of autism disease mechanisms through genetics
de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H. (2016) · Nature Medicine · doi:10.1038/nm.4071 · Cited by 827
The genetic architecture of the human cerebral cortex
Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., Lind, P. A., Pizzagalli, F., Ching, C. R. K., McMahon, M. A. B., et al. (2020) · Science · doi:10.1126/science.aay6690 · Cited by 876
Metadata
- Authors
- Ronan, J. L., Wu, W., & Crabtree, G. R.
- Affiliations
- Stanford University (US)
- Corresponding author
- Crabtree, Gerald R.
- Venue
- Nature Reviews Genetics
- Published
- 2013-04-09
- Volume
- 14
- Issue
- 5
- Pages
- 347-359
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC4010428
- OpenAlex
- W2060429763
- Cited by
- 544
- References
- 130
- Citations by year
- 2026: 18 · 2025: 18 · 2024: 22 · 2023: 31 · 2022: 25 · 2021: 36 · 2020: 48 · 2019: 42 · 2018: 90 · 2017: 44 · 2016: 43 · 2015: 47 · 2014: 58 · 2013: 21
- FWCI
- 6.93
- Type
- journal article
- Language
- en
- Update notices
- erratum (2013-05-09)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- California Institute for Regenerative Medicine
- California Institute of Regenerative Medicine
- National Institutes of Health
- National Cancer Institute (CA163915, R01CA163915)
- National Institute of Neurological Disorders and Stroke (NS046789, R01NS046789, R37NS046789)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- chromatin regulation, neural development, neurodevelopmental disorders, mental illness, chromatin remodellers, histone-modifying enzymes, SWI/SNF complex, CHD8, HDAC4, EZH2, Polycomb, intellectual disability, cognitive impairment, cancer mutations
- MeSH terms
- Enhancer of Zeste Homolog 2 Protein, Animals, Chromatin, Cognition, DNA-Binding Proteins, Histone Deacetylases, Humans, Intellectual Disability, Mutation, Neurons, Nuclear Proteins, Repressor Proteins, Transcription Factors, Chromatin Assembly and Disassembly, Neurogenesis, Polycomb Repressive Complex 2
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