Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by symptoms related to altered social interactions/communication and restricted and repetitive behaviors. In addition to genetic risk, epigenetic mechanisms (which include DNA methylation/demethylation) are thought to be important in the etiopathogenesis of ASD. We studied epigenetic mechanisms underlying the transcriptional regulation of candidate genes in cerebella of ASD patients, including the binding of MeCP2 (methyl CpG binding protein-2) to the glutamic acid decarboxylase 67 (GAD1), glutamic acid decarboxylase 65 (GAD2), and Reelin (RELN) promoters and gene bodies. Moreover, we performed methyl DNA immunoprecipitation (MeDIP) and hydroxymethyl DNA immunoprecipitation (hMeDIP) to measure total 5-methylcytosine (5-mC) and 5-hydroxymethylcytosine (5-hmC) in the same regions of these genes. The enrichment of 5-hmC and decrease in 5-mC at the GAD1 or RELN promoters detected by 5-hmC and 5-mC antibodies was confirmed by Tet-assisted bisulfite (TAB) pyrosequencing. The results showed a marked and significant increase in MeCP2 binding to the promoter regions of GAD1 and RELN, but not to the corresponding gene body regions in cerebellar cortex of ASD patients. Moreover, we detected a significant increase in TET1 expression and an enrichment in the level of 5-hmC, but not 5-mC, at the promoters of GAD1 and RELN in ASD when compared with CON. Moreover, there was increased TET1 binding to these promoter regions. These data are consistent with the hypothesis that an increase of 5-hmC (relative to 5-mC) at specific gene domains enhances the binding of MeCP2 to 5-hmC and reduces expression of the corresponding target genes in ASD cerebella.
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Both GAD1 and reelin genes are reduced in patients with ASD relative to neurotypical controls and are associated with changes in DNA methylation and hydroxymethylation marks within the promoter region leading to MECP2-dependent repression.
“Both genes are reduced in patients with ASD relative to neurotypical controls and are associated with changes in DNA methylation and hydroxymethylation marks within the promoter region leading to MECP2-dependent repression [ 158 ].”
From DNA methylation: a mechanism linking environmental chemical exposures to risk of autism spectrum disorders? (2016) · cites this paper as [158]
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Cites
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440 · see citing works
The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain
Kriaucionis, S., & Heintz, N. (2009) · Science · doi:10.1126/science.1169786 · Cited by 2,700 · see citing works
Global epigenomic reconfiguration during mammalian brain development
Lister, R., Mukamel, E. A., Nery, J. R., Urich, M., Puddifoot, C. A., Johnson, N. D., Lucero, J., Huang, Y., Dwork, A. J., Schultz, M. D., et al. (2013) · Science · doi:10.1126/science.1237905 · Cited by 1,830 · see citing works
Hydroxylation of 5-Methylcytosine by TET1 Promotes Active DNA Demethylation in the Adult Brain
Guo, J. U., Su, Y., Zhong, C., Ming, G., & Song, H. (2011) · Cell · doi:10.1016/j.cell.2011.03.022 · Cited by 1,355 · 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
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature · doi:10.1038/nature09582 · Cited by 1,168 · see citing works
Base-Resolution Analysis of 5-Hydroxymethylcytosine in the Mammalian Genome
Yu, M., Hon, G. C., Szulwach, K. E., Song, C., Zhang, L., Kim, A., Li, X., Dai, Q., Shen, Y., Park, B., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.027 · Cited by 1,022 · see citing works
MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system
Mellén, M., Ayata, P., Dewell, S., Kriaucionis, S., & Heintz, N. (2012) · Cell · doi:10.1016/j.cell.2012.11.022 · Cited by 943 · 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
Tissue Distribution of 5-Hydroxymethylcytosine and Search for Active Demethylation Intermediates
Globisch, D., Münzel, M., Müller, M., Michalakis, S., Wagner, M., Koch, S., Brückl, T., Biel, M., & Carell, T. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015367 · Cited by 865 · see citing works
Consensus Paper: Pathological Role of the Cerebellum in Autism
Fatemi, S. H., Aldinger, K. A., Ashwood, P., Bauman, M. L., Blaha, C. D., Blatt, G. J., Chauhan, A., Chauhan, V., Dager, S. R., Dickson, P. E., et al. (2012) · The Cerebellum · doi:10.1007/s12311-012-0355-9 · Cited by 723 · see citing works
Activity-dependent neuronal signalling and autism spectrum disorder
Ebert, D. H., & Greenberg, M. E. (2013) · Nature · doi:10.1038/nature11860 · Cited by 666 · see citing works
Fatemi, S. H., Halt, A. R., Stary, J. M., Kanodia, R., Schulz, S. C., & Realmuto, G. R. (2002) · Biological Psychiatry · doi:10.1016/s0006-3223(02)01430-0 · Cited by 500 · see citing works
The Role of MeCP2 in the Brain
Guy, J., Cheval, H., Selfridge, J., & Bird, A. P. (2011) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-092910-154121 · Cited by 414 · see citing works
Nagarajan, R., Hogart, A., Gwye, Y., Martin, M. R., & LaSalle, J. M. (2006) · Epigenetics · doi:10.4161/epi.1.4.3514 · Cited by 347 · see citing works
MeCP2 binds to 5hmc enriched within active genes and accessible chromatin in the nervous system
Mellén, M., Ayata, P., Dewell, S. B., Kriaučionis, S., & Heintz, N. (2013) · Epigenetics & Chromatin · doi:10.1186/1756-8935-6-s1-p52 · Cited by 345 · see citing works
Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications
Yip, J., Soghomonian, J.-J., & Blatt, G. J. (2007) · Acta Neuropathologica · doi:10.1007/s00401-006-0176-3 · Cited by 303 · see citing works
Clozapine and sulpiride but not haloperidol or olanzapine activate brain DNA demethylation
Dong, E., Nelson, M., Grayson, D. R., Costa, E., & Guidotti, A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0805493105 · Cited by 284 · see citing works
Self-citationThe Dynamics of DNA Methylation in Schizophrenia and Related Psychiatric Disorders
Grayson, D. R., & Guidotti, A. (2012) · Neuropsychopharmacology · doi:10.1038/npp.2012.125 · Cited by 267 · see citing works
Self-citationMouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
Ben-Shachar, S., Chahrour, M., Thaller, C., Shaw, C. A., & Zoghbi, H. Y. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp181 · Cited by 253 · see citing works
Tet-assisted bisulfite sequencing of 5-hydroxymethylcytosine
Yu, M., Hon, G. C., Szulwach, K. E., Song, C., Jin, P., Ren, B., & He, C. (2012) · Nature Protocols · doi:10.1038/nprot.2012.137 · Cited by 250 · see citing works
Zhang, H., Zhang, X., Clark, E. A., Mulcahey, M., Huang, S. A., & Shi, Y. (2010) · Cell Research · doi:10.1038/cr.2010.156 · Cited by 221 · see citing works
Dysregulation of Reelin and Bcl-2 Proteins in Autistic Cerebellum
Fatemi, S. H., Stary, J. M., Halt, A. R., & Realmuto, G. R. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1013234708757 · Cited by 212 · see citing works
The Role of MeCP2 in Brain Development and Neurodevelopmental Disorders
Gonzales, M. L., & LaSalle, J. M. (2010) · Current Psychiatry Reports · doi:10.1007/s11920-010-0097-7 · Cited by 209 · see citing works
Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function
Shahbazian, M. D., & Zoghbi, H. Y. (2002) · The American Journal of Human Genetics · doi:10.1086/345360 · Cited by 201 · see citing works
The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity
Na, E. S., Nelson, E. D., Kavalali, E. T., & Monteggia, L. M. (2012) · Neuropsychopharmacology · doi:10.1038/npp.2012.116 · Cited by 181 · see citing works
Wang, T., Pan, Q., Li, L., Szulwach, K. E., Song, C., He, C., Wu, H., Warren, S. T., Jin, P., Duan, R., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds394 · Cited by 176 · see citing works
Dong, E., Gavin, D. P., Chen, Y., & Davis, J. M. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.86 · Cited by 121 · see citing works
Self-citationThe relationship of Rett syndrome and MECP2 disorders to autism
Neul, J. L. (2012) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2012.14.3/jneul · Cited by 120 · see citing works
MECP2 promoter methylation and X chromosome inactivation in autism
Nagarajan, R. P., Patzel, K. A., Martin, M. R., Yasui, D. H., Swanberg, S. E., Hertz‐Picciotto, I., Hansen, R. L., de Water, J. V., Pessah, I. N., Jiang, R., et al. (2008) · Autism Research · doi:10.1002/aur.24 · Cited by 110 · see citing works
Growth Arrest and DNA-Damage-Inducible, Beta (GADD45b)-Mediated DNA Demethylation in Major Psychosis
Gavin, D. P., Sharma, R. P., Chase, K. A., Matrisciano, F., Dong, E., & Guidotti, A. (2011) · Neuropsychopharmacology · doi:10.1038/npp.2011.221 · Cited by 104 · see citing works
Self-citationGonzales, M. L., Adams, S., Dunaway, K. W., & LaSalle, J. M. (2012) · Molecular and Cellular Biology · doi:10.1128/mcb.06728-11 · Cited by 94 · see citing works
Chao, H., & Zoghbi, H. Y. (2012) · Nature Neuroscience · doi:10.1038/nn.3027 · Cited by 64 · see citing works
Mechanisms and therapeutic challenges in autism spectrum disorders
Castro, J. E., Mellios, N., & Sur, M. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835f19a7 · Cited by 56 · see citing works
MECP2 duplication syndrome in both genders
Shimada, S., Okamoto, N., Ito, M., Arai, Y., Momosaki, K., Togawa, M., Maegaki, Y., Sugawara, M., Shimojima, K. Y., Ōsawa, M., et al. (2012) · Brain and Development · doi:10.1016/j.braindev.2012.07.010 · Cited by 55 · see citing works
Kadriu, B., Guidotti, A., Chen, Y., & Grayson, D. R. (2011) · The Journal of Comparative Neurology · doi:10.1002/cne.23020 · Cited by 53 · see citing works
Self-citationChen, Y., Dong, E., & Grayson, D. R. (2010) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.09.017 · Cited by 41 · see citing works
Self-citation
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Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,949 · see citing works
Epigenetics across the human lifespan
Kanherkar, R. R., Bhatia-Dey, N., & Csoka, A. B. (2014) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2014.00049 · Cited by 407 · see citing works
Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
Jiang, C.-C., Lin, L., Long, S., Ke, X., Fukunaga, K., Lu, Y., & Han, F. (2022) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01081-0 · Cited by 272 · see citing works
The Role of Epigenetic Change in Autism Spectrum Disorders
Loke, Y. J., Hannan, A. J., & Craig, J. M. (2015) · Frontiers in Neurology · doi:10.3389/fneur.2015.00107 · Cited by 250 · see citing works
Harripaul, R., Vasli, N., Mikhailov, A., Rafiq, M. A., Mittal, K., Windpassinger, C., Sheikh, T. I., Noor, A., Mahmood, H., Downey, S., et al. (2018) · Molecular Psychiatry · doi:10.1038/mp.2017.60 · Cited by 175 · see citing works
Richetto, J., & Meyer, U. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.03.008 · Cited by 183 · see citing works
Keil, K. P., & Lein, P. J. (2016) · Environmental Epigenetics · doi:10.1093/eep/dvv012 · Cited by 167 · see citing works
The landscape of DNA methylation amid a perfect storm of autism aetiologies
Ciernia, A. V., & LaSalle, J. M. (2016) · Nature reviews. Neuroscience · doi:10.1038/nrn.2016.41 · Cited by 166 · see citing works
Dong, E., Dzitoyeva, S., Matrisciano, F., Tueting, P. A., Grayson, D. R., & Guidotti, A. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.08.012 · Cited by 162 · see citing works
Self-citationMolecular and network-level mechanisms explaining individual differences in autism spectrum disorder
Buch, A. M., Vértes, P. E., Seidlitz, J., Kim, S. H., Grosenick, L., & Liston, C. M. (2023) · Nature Neuroscience · doi:10.1038/s41593-023-01259-x · Cited by 156 · see citing works
DNA Modifications: Function and Applications in Normal and Disease States
Liyanage, V. R. B., Jarmasz, J. S., Murugeshan, N., Bigio, M. R. D., Rastegar, M., & Davie, J. (2014) · Biology · doi:10.3390/biology3040670 · Cited by 150 · see citing works
Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder
Yoon, S. H., Choi, J., Lee, W. Y., & Do, J. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9040966 · Cited by 156 · see citing works
Fetit, R., Hillary, R. F., Price, D. J., & Lawrie, S. M. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.07.014 · Cited by 148 · see citing works
Labouesse, M. A., Dong, E., Grayson, D. R., Guidotti, A., & Meyer, U. (2015) · Epigenetics · doi:10.1080/15592294.2015.1114202 · Cited by 138 · see citing works
Self-citationDysregulation of Cortical Neuron DNA Methylation Profile in Autism Spectrum Disorder
Nardone, S., Sams, D. S., Zito, A., Reuveni, E., & Elliott, E. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx250 · Cited by 134 · see citing works
DNA Methylation and Susceptibility to Autism Spectrum Disorder
Tremblay, M. W., & Jiang, Y. (2019) · Annual Review of Medicine · doi:10.1146/annurev-med-120417-091431 · Cited by 132 · see citing works
Grova, N., Schroeder, H., Olivier, J. L., & Turner, J. D. (2019) · International Journal of Genomics · doi:10.1155/2019/2085496 · Cited by 132 · see citing works
Epigenetics of Autism Spectrum Disorder
Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121 · see citing works
Prenatal maternal immune activation causes epigenetic differences in adolescent mouse brain
Basil, P., Li, Q., Dempster, E. L., Mill, J., Sham, P.-C., Wong, C. C. Y., & McAlonan, G. M. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.80 · Cited by 116 · see citing works
Zheng, Y., Fan, W., Zhang, X., & Dong, E. (2016) · Epigenetics · doi:10.1080/15592294.2016.1146850 · Cited by 111 · see citing works
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Montanari, M., Martella, G., Bonsi, P., & Meringolo, M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073861 · Cited by 105 · see citing works
Ansel, A., Rosenzweig, J. P., Zisman, P. D., Melamed, M., & Gesundheit, B. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00601 · Cited by 101 · see citing works
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Krishnan, H. R., Sakharkar, A. J., Teppen, T. L., Berkel, T. D. M., & Pandey, S. C. (2014) · International review of neurobiology · doi:10.1016/b978-0-12-801311-3.00003-2 · Cited by 98 · see citing works
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Cheng, Y., Bernstein, A. I., Chen, D., & Jin, P. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.05.008 · Cited by 97 · see citing works
Figueroa‐Romero, C., Hur, J., Lunn, J. S., Paez-Colasante, X., Bender, D. E., Yung, R. L., Sakowski, S. A., & Feldman, E. L. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.12.008 · Cited by 98 · see citing works
Dong, E., Ruzicka, W. B., Grayson, D. R., & Guidotti, A. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.10.030 · Cited by 93 · see citing works
Self-citationThe Interplay between DNA Methylation, Folate and Neurocognitive Development
Irwin, R. E., Pentieva, K. D., Cassidy, T., Lees‐Murdock, D. J., McLaughlin, M., Prasad, G., McNulty, H., & Walsh, C. P. (2016) · Epigenomics · doi:10.2217/epi-2016-0003 · Cited by 94 · see citing works
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Al-Dewik, N. I. E. (2020) · Frontiers in bioscience · doi:10.2741/4873 · Cited by 111 · see citing works
RELN Mutations in Autism Spectrum Disorder
Lammert, D. B., & Howell, B. W. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00084 · Cited by 94 · see citing works
From development to diseases: The role of 5hmC in brain
Sun, W., Zang, L., Shu, Q., & Li, X. (2014) · Genomics · doi:10.1016/j.ygeno.2014.08.021 · Cited by 90 · see citing works
Epigenetic Regulation of the Social Brain
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Role of oxidative stress and DNA hydroxymethylation in the neurotoxicity of fine particulate matter
Wei, H., Feng, Y., Liang, F., Cheng, W., Wu, X., Zhou, R., & Wang, Y. (2017) · Toxicology · doi:10.1016/j.tox.2017.01.017 · Cited by 87 · see citing works
Epigenetic RELN Dysfunction in Schizophrenia and Related Neuropsychiatric Disorders
Guidotti, A., Grayson, D. R., & Caruncho, H. J. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00089 · Cited by 83 · see citing works
Self-citation5-hydroxymethylcytosine is highly dynamic across human fetal brain development
Spiers, H., Hannon, E., Schalkwyk, L. C., Bray, N. J., & Mill, J. (2017) · BMC Genomics · doi:10.1186/s12864-017-4091-x · Cited by 80 · see citing works
Epigenetics and cerebral organoids: promising directions in autism spectrum disorders
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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
Zhubi, A., Chen, Y., Guidotti, A., & Grayson, D. R. (2017) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2017.02.003 · Cited by 74 · see citing works
Self-citationGross, J. A., Pacis, A., Chen, G., Megan, D., Lutz, P.-É., Barreiro, L. B., & Turecki, G. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.93 · Cited by 74 · see citing works
The effects of DNA methylation on human psychology
Kader, F., Ghai, M., & Maharaj, L. (2017) · Behavioural Brain Research · doi:10.1016/j.bbr.2017.12.004 · Cited by 70 · see citing works
Genome-wide DNA methylation profiling in infants born to gestational diabetes mellitus
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Thongkorn, S., Kanlayaprasit, S., Jindatip, D., Tencomnao, T., Hu, V. W., & Sarachana, T. (2019) · Scientific Reports · doi:10.1038/s41598-019-39386-w · Cited by 66 · see citing works
Differentially Methylated Genes in Saliva are linked to Childhood Stress
Papale, L. A., Seltzer, L. J., Madrid, A., Pollak, S. D., & Alisch, R. S. (2018) · Scientific Reports · doi:10.1038/s41598-018-29107-0 · Cited by 66 · see citing works
Patriarchi, T., Amabile, S., Frullanti, E., Landucci, E., Rizzo, C. L., Ariani, F., Costa, M., Olimpico, F., Hell, J. W., Vaccarino, F. M., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.216 · Cited by 66 · see citing works
Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders
Kubota, T., & Mochizuki, K. (2016) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph13050504 · Cited by 63 · see citing works
Toward the Identification of Peripheral Epigenetic Biomarkers of Schizophrenia
Guidotti, A., Auta, J., Davis, J. M., Dong, E., Gavin, D. P., Grayson, D. R., Sharma, R. P., Smith, R. C., Tueting, P. A., & Zhubi, A. (2014) · Journal of Neurogenetics · doi:10.3109/01677063.2014.892485 · Cited by 54 · see citing works
Self-citationLintas, C., Sacco, R., & Persico, A. M. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9151-z · Cited by 50 · see citing works
5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder
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Epigenetic Mechanisms in Autism Spectrum Disorder
Zhubi, A., Cook, E. H., Guidotti, A., & Grayson, D. R. (2014) · International review of neurobiology · doi:10.1016/b978-0-12-801311-3.00006-8 · Cited by 51 · see citing works
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Corley, M. J., Vargas-Maya, N. I., Pang, A. P. S., Lum‐Jones, A., Li, D., Khadka, V. S., Sultana, R., Blanchard, D. C., & Maunakea, A. K. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00907 · Cited by 48 · see citing works
Li, S., Papale, L. A., Zhang, Q., Madrid, A., Chen, L., Chopra, P., Keleş, S., Jin, P., & Alisch, R. S. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.11.010 · Cited by 47 · see citing works
Shukla, A., Sehgal, M., & Singh, T. R. (2015) · Gene · doi:10.1016/j.gene.2015.03.075 · Cited by 46 · see citing works
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Characterizing 5-hydroxymethylcytosine in human prefrontal cortex at single base resolution
Gross, J. A., Pacis, A., Chen, G. G., Barreiro, L. B., Ernst, C., & Turecki, G. (2015) · BMC Genomics · doi:10.1186/s12864-015-1875-8 · Cited by 44 · see citing works
Nadeem, A., Al-Harbi, N. O., Ahmad, S. F., Alhazzani, K., Attia, S. M., Alsanea, S., Alhoshani, A., Mahmood, H. M., Alfardan, A. S., & Bakheet, S. A. (2021) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2021.110249 · Cited by 43 · see citing works
Early-life stress links 5-hydroxymethylcytosine to anxiety-related behaviors
Papale, L. A., Madrid, A., Li, S., & Alisch, R. S. (2017) · Epigenetics · doi:10.1080/15592294.2017.1285986 · Cited by 41 · see citing works
The effects of aging on the BTBR mouse model of autism spectrum disorder
Jasien, J., Daimon, C. M., Wang, R., Shapiro, B. K., Martin, B., & Maudsley, S. R. (2014) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2014.00225 · Cited by 41 · see citing works
The Role of MeCP2 in Regulating Synaptic Plasticity in the Context of Stress and Depression
Sánchez-Lafuente, C. L., Kalynchuk, L. E., Caruncho, H. J., & Ausió, J. (2022) · Cells · doi:10.3390/cells11040748 · Cited by 39 · see citing works
Neurotrophins and Their Receptors: BDNF’s Role in GABAergic Neurodevelopment and Disease
Caño, C. H.-D., Varela-Andrés, N., Cebrián-León, A., & Deogracias, R. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25158312 · Cited by 40 · see citing works
Lammert, D. B., Middleton, F. A., Pan, J. Q., Olson, E. C., & Howell, B. W. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14045 · Cited by 36 · see citing works
Rygiel, C. A., Goodrich, J. M., Solano-González, M., Mercado‐García, A., Hu, H., Téllez‐Rojo, M. M., Peterson, K. E., & Dolinoy, D. C. (2021) · Environmental Health Perspectives · doi:10.1289/ehp8507 · Cited by 33 · see citing works
Implication de l’épigénétique dans les troubles du spectre autistique : revue de la littérature
Hamza, M., Halayem, S., M’rad, R., Bourgou, S., Charfi, F., & Belhadj, A. (2016) · L Encéphale · doi:10.1016/j.encep.2016.07.007 · Cited by 32 · see citing works
5-Hydroxymethylcytosine, the “Sixth Base”, during brain development and ageing
Kraus, T. F. J., Guibourt, V., & Kretzschmar, H. A. (2014) · Journal of Neural Transmission · doi:10.1007/s00702-014-1346-4 · Cited by 29 · see citing works
The Role of Genetics, Epigenetics, and the Environment in ASD: A Mini Review
Khogeer, A., Abumansour, I. S., & Mohammed, D. A. (2022) · Epigenomes · doi:10.3390/epigenomes6020015 · Cited by 29 · see citing works
DNA Methylation and Hydroxymethylation and Behavior
Rustad, S. R., Papale, L. A., & Alisch, R. S. (2019) · Current topics in behavioral neurosciences · doi:10.1007/7854_2019_104 · Cited by 25 · see citing works
Sex-specific hippocampal 5-hydroxymethylcytosine is disrupted in response to acute stress
Papale, L. A., Li, S., Madrid, A., Zhang, Q., Chen, L., Chopra, P., Jin, P., Keleş, S., & Alisch, R. S. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.08.014 · Cited by 26 · see citing works
An epigenetic view of developmental diseases: new targets, new therapies
Xie, P., Zang, L., Li, X., & Shu, Q. (2016) · World Journal of Pediatrics · doi:10.1007/s12519-016-0020-3 · Cited by 25 · see citing works
Retinal alterations in a pre-clinical model of an autism spectrum disorder
Guimarães‐Souza, E. M., Joselevitch, C., de Britto, L. R. G., & Chiavegatto, S. (2019) · Molecular Autism · doi:10.1186/s13229-019-0270-8 · Cited by 24 · see citing works
Differential regulation of MeCP2 and PP1 in passive or voluntary administration of cocaine or food
Bodetto, S. P., Romieu, P., Sartori, M., Tesone-Coelho, C., Majchrzak, M. J., Barbelivien, A., Zwiller, J., & Anglard, P. (2014) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145714000972 · Cited by 22 · see citing works
Bio-collections in autism research
Reilly, J., Gallagher, L., Chen, J. L., Leader, G., & Shen, S. (2017) · Molecular Autism · doi:10.1186/s13229-017-0154-8 · Cited by 23 · see citing works
Madrid, A., Chopra, P., & Alisch, R. S. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00039 · Cited by 23 · see citing works
Ni, C., Qian, M., Geng, J., Qu, Y., Tian, Y., Yang, N., Li, S., & Zheng, H. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00211 · Cited by 21 · see citing works
Romano, G., Holodkov, N., Klima, R., Grilli, F., Guarnaccia, C., Nizzardo, M., Rizzo, F., Garcia, R. C., & Feiguin, F. M. (2018) · Scientific Reports · doi:10.1038/s41598-018-19802-3 · Cited by 21 · see citing works
The Role of GABA Pathway Components in Pathogenesis of Neurodevelopmental Disorders
Marilovtseva, E. V., Abdurazakov, A., Kurishev, A. O., Mikhailova, V. A., & Голимбет, В. Е. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199492 · Cited by 20 · see citing works
mTOR-Dependent Spine Dynamics in Autism
Chaudry, S., & Vasudevan, N. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.877609 · Cited by 22 · see citing works
He, F., Lupu, D. S., & Niculescu, M. D. (2014) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2014.05.006 · Cited by 20 · see citing works
Vitamin C Promotes Astrocyte Differentiation Through DNA Hydroxymethylation
Kim, J.-H., Kim, M., He, X., Wulansari, N., Yoon, B.-H., Bae, D.-H., Huh, N., Kim, S., Lee, S., & Kim, S. (2018) · Stem Cells · doi:10.1002/stem.2886 · Cited by 20 · see citing works
Autism spectrum disorders: autistic phenotypes and complicated mechanisms
Zhang, X.-C., Shu, L., Zhao, X., & Li, X. (2019) · World Journal of Pediatrics · doi:10.1007/s12519-018-0210-2 · Cited by 20 · see citing works
Food Allergy-Induced Autism-Like Behavior is Associated with Gut Microbiota and Brain mTOR Signaling
Cao, L., He, H.-J., Zhao, Y., Wang, Z., Jia, X.-Y., Srivastava, K. D., Miao, M., & Li, X.-M. (2022) · Journal of Asthma and Allergy · doi:10.2147/jaa.s348609 · Cited by 19 · see citing works
Physiological and pathological implications of 5-hydroxymethylcytosine in diseases
Liang, J., Yang, F., Zhao, L., Bi, C., & Cai, B. (2016) · Oncotarget · doi:10.18632/oncotarget.9281 · Cited by 19 · see citing works
Inhibition of DNA Methylation Impairs Synaptic Plasticity during an Early Time Window in Rats
Muñoz, P., Estay, C., Díaz, P., Elgueta, C., Ardiles, Á. O., & Lizana, P. A. (2016) · Neural Plasticity · doi:10.1155/2016/4783836 · Cited by 19 · see citing works
Alex, A. M., Saradalekshmi, K. R., Shilen, N., Suresh, P. A., & Banerjee, M. (2019) · IUBMB Life · doi:10.1002/iub.2021 · Cited by 19 · see citing works
Hack, L. M., Dick, A. L. W., & Provençal, N. (2016) · Environmental Epigenetics · doi:10.1093/eep/dvw016 · Cited by 18 · see citing works
Papale, L. A., Madrid, A., Zhang, Q., Chen, K., Sak, L., Keleş, S., & Alisch, R. S. (2021) · Genome Research · doi:10.1101/gr.276137.121 · Cited by 18 · see citing works
Traversing the epigenetic landscape: DNA methylation from retina to brain in development and disease
Xu, C., Fu, X.-Y., Qin, H., & Yao, K. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1499719 · Cited by 17 · see citing works
The role of TET proteins in stress-induced neuroepigenetic and behavioural adaptations
Dick, A., & Chen, A. (2021) · Neurobiology of Stress · doi:10.1016/j.ynstr.2021.100352 · Cited by 16 · see citing works
Alshamrani, A. A., Alshehri, S., Alqarni, S. S., Ahmad, S. F., Alghibiwi, H. K., Al-Harbi, N. O., Alqarni, S. A., AL-Ayadhi, L. Y., Attia, S. M., Alfardan, A. S., et al. (2023) · Metabolites · doi:10.3390/metabo13030458 · Cited by 16 · see citing works
Prenatal stress induced chromatin remodeling and risk of psychopathology in adulthood
Dong, E., & Pandey, S. C. (2020) · International review of neurobiology · doi:10.1016/bs.irn.2020.08.004 · Cited by 15 · see citing works
Self-citationAlterations in the Genomic Distribution of 5hmC in In Vivo Aged Human Skin Fibroblasts
Kołodziej, P., Borkowska, J., Wicik, Z., Domaszewska-Szostek, A., Połosak, J., Cakala, M., Bujanowska, O., & Puzianowska‐Kuźnicka, M. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms22010078 · Cited by 16 · see citing works
Elevated Plasma Reelin Levels in Children With Autism
Cuchillo‐Ibáñez, I., Andreo-Lillo, P., Pastor-Ferrándiz, L., Carratalá-Marco, F., & Sáez‐Valero, J. (2020) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.00242 · Cited by 15 · see citing works
Pearson, G., Song, C., Hohmann, S. S., Prokhorova, T. A., Michel, T. M., & Knöpfel, T. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23169188 · Cited by 16 · see citing works
The Epigenetic Mechanisms of Amphetamine
Mccowan, T. J., Dhasarathy, A., & Carvelli, L. (2015) · Journal of Addiction & Prevention · doi:10.13188/2330-2178.s100001 · Cited by 15 · see citing works
Cortelazzo, A., Felice, C. D., Guerranti, R., Signorini, C., Leoncini, S., Pecorelli, A., Scalabrì, F., Madonna, M., Filosa, S., Giovampaola, C. D., et al. (2015) · Neuroscience Research · doi:10.1016/j.neures.2015.10.002 · Cited by 14 · see citing works
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder
Al-Dewik, N. I. E., & Alsharshani, M. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-30402-7_2 · Cited by 13 · see citing works
New Insights into TETs in Psychiatric Disorders
Zhan, W., Li, Y., Yuan, J., Zhi, N., Huang, Y., Liu, Y., Zhang, M., Wu, S., & Zhao, X. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23094909 · Cited by 14 · see citing works
Mice with Dab1 or Vldlr insufficiency exhibit abnormal neonatal vocalization patterns
Fraley, E., Burkett, Z. D., Day, N. F., Schwartz, B. A., Phelps, P. E., & White, S. A. (2016) · Scientific Reports · doi:10.1038/srep25807 · Cited by 13 · see citing works
Khoodoruth, M. A. S., Khoodoruth, W. N. C., & Alwani, R. A. (2024) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2024.2 · Cited by 12 · see citing works
Horizons of psychiatric genetics and epigenetics: where are we and where are we heading?
Abdolmaleky, H. M. (2014) · Europe PMC (PubMed Central) · Cited by 12 · see citing works
Epigenetics of cell fate reprogramming and its implications for neurological disorders modelling
Grzybek, M., Golonko, A., Walczak, M., & Lisowski, P. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.11.007 · Cited by 12 · see citing works
- Authors
- Zhubi, A., Chen, Y., Dong, E., Cook, E. H., Guidotti, A., & Grayson, D. R.
- Affiliations
- University of Illinois Chicago (US)
- Corresponding author
- Grayson, D R
- Venue
- Translational Psychiatry
- Published
- 2014-01-21
- Volume
- 4
- Issue
- 1
- Pages
- e349-e349
- ISSN
- 2158-3188 (ISSN-L)
- PMC
- PMC3905233
- OpenAlex
- W1984369088
- Cited by
- 154
- References
- 37
- Citations by year
- 2026: 4 · 2025: 10 · 2024: 13 · 2023: 8 · 2022: 11 · 2021: 8 · 2020: 11 · 2019: 13 · 2018: 7 · 2017: 17 · 2016: 21 · 2015: 13 · 2014: 18
- FWCI
- 9.43
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- www.springer.com/tdm (unspecified)
- Locations
- Translational Psychiatry (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (NIH P50, HD055751)
- National Institute of Mental Health (R24MH068855, R01MH093348)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055751)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- autism spectrum disorder, MeCP2, 5-hydroxymethylcytosine, 5-methylcytosine, DNA methylation, TET1, GAD1, GAD-2, reelin, promoter binding, cerebellum, epigenetic regulation, transcriptional regulation
- MeSH terms
- Reelin Protein, Cerebellar Cortex, Child Development Disorders, Pervasive, Cytosine, DNA-Binding Proteins, Glutamate Decarboxylase, Humans, Mixed Function Oxygenases, Nerve Tissue Proteins, Promoter Regions, Genetic, Proto-Oncogene Proteins, Serine Endopeptidases, Tissue Banks, Cell Adhesion Molecules, Neuronal, Extracellular Matrix Proteins, Epigenesis, Genetic, 5-Methylcytosine, Methyl-CpG-Binding Protein 2
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