Inoue, K, Kanai, M, Tanabe, Y, et al. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease. Prenat Diagn. 2001; 21, 1133–1136.
Reiner, O, Carrozzo, R, Shen, Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing g protein beta-subunit-like repeats. Nature. 1993; 364, 717–721.
Bi, W, Sapir, T, Shchelochkov, OA, et al. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009; 41, 168–177.
Obi, T, Nishioka, K, Ross, OA, et al. Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. Neurology. 2008; 70, 238–241.
Waddington, CH. Epigenotype. Endeavour. 1942; 1, 18–20.
Sharma, S, Kelly, TK, Jones, PA. Epigenetics in cancer. Carcinogenesis. 2010; 31, 27–36.
Kubota, T, Das, S, Christian, SL, et al. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997; 16, 16–17.
Nicholls, RD, Saitoh, S, Horsthemke, B. Imprinting in Prader-Willi and Angelman syndromes. Trends Genet. 1998; 14, 194–200.
Duker, AL, Ballif, BC, Bawle, EV, et al. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet. 2010; 18, 1196–1201.
Runte, M, Kroisel, PM, Gillessen-Kaesbach, G, et al. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet. 2004; 114, 553–561.
Kubota, T, Saitoh, S, Matsumoto, T, et al. Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome. Am J Med Genet. 1994; 49, 378–383.
Kubota, T, Wakui, K, Nakamura, T, et al. Proportion of the cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet Genome Res. 2002; 99, 276–284.
Kubota, T, Nonoyama, S, Tonoki, H, et al. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet. 1999; 104, 49–55.
Sasaki, H, Matsui, Y. Epigenetic events in mammalian germ-cell development: reprogramming and beyond. Nat Rev Genet. 2008; 9, 129–140.
Sakashita, K, Koike, K, Kinoshita, T, et al. Dynamic DNA methylation change in the CpG island region of p15 during human myeloid development. J Clin Invest. 2001; 108, 1195–1204.
Lillycrop, KA, Phillips, ES, Jackson, AA, Hanson, MA, Burdge, GC. Dietary protein restriction of pregnant rats induces and folic acid supplementation prevents epigenetic modification of hepatic gene expression in the offspring. J Nutr. 2005; 135, 1382–1386.
Lillycrop, KA, Phillips, ES, Torrens, C, et al. Feeding pregnant rats a protein-restricted diet persistently alters the methylation of specific cytosines in the hepatic PPAR alpha promoter of the offspring. Br J Nutr. 2008; 100, 278–282.
Weaver, IC, Cervoni, N, Champagne, FA, et al. Epigenetic programming by maternal behavior. Nat Neurosci. 2004; 7, 847–854.
Nolen, LD, Gao, S, Han, Z, et al. X chromosome reactivation and regulation in cloned embryos. Dev Biol. 2005; 279, 525–540.
Okano, M, Bell, DW, Haber, DA, et al. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell. 1999; 99, 247–257.
Shirohzu, H, Kubota, T, Kumazawa, A, et al. Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Am J Med Genet. 2002; 112, 31–37.
Kubota, T, Furuumi, H, Kamoda, T, et al. ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. Am J Med Genet. A. 2004; 129, 290–293.
Tatton-Brown, K, Seal, S, Ruark, E, et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014; 46, 385–388.
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.
Chunshu, Y, Endoh, K, Soutome, M, et al. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. Clin Genet. 2006; 70, 530–531.
Miyake, K, Hirasawa, T, Soutome, M, et al. The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome. BMC Neurosci. 2011; 12, 81.
Lumey, LH. Decreased birthweights in infants after maternal in utero exposure to the Dutch famine of 1944-1945. Paediatr Perinat Epidemiol. 1992; 6, 240–253.
Painter, RC, de Rooij, SR, Bossuyt, PM, et al. Early onset of coronary artery disease after prenatal exposure to the Dutch famine. Am J Clin Nutr. 2006; 84, 322–327.
St Clair, D, Xu, M, Wang, P, et al. Rates of adult schizophrenia following prenatal exposure to the Chinese famine of 1959–1961. JAMA. 2005; 294, 557–562.
Gluckman, PD, Seng, CY, Fukuoka, H, Beedle, AS, Hanson, MA. Low birthweight and subsequent obesity in Japan. Lancet. 2007; 369, 1081–1082.
Tobi, EW, Lumey, LH, Talens, RP, et al. DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific. Hum Mol Genet. 2009; 18, 4046–4053.
Lim, D, Bowdin, SC, Tee, L. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod. 2009; 24, 741–747.
Tee, L, Lim, DH, Dias, RP, et al. Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. Clin Epigenetics. 2013; 5, 23.
McGowan, PO, Sasaki, A, D’Alessio, AC, et al. Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse. Nat Neurosci. 2009; 12, 342–348.
Murgatroyd, C, Patchev, AV, Wu, Y, et al. Dynamic DNA methylation programs persistent adverse effects of early-life stress. Nat Neurosci. 2009; 12, 1559–1566.
Kim, YS, Leventhal, BL, Koh, YJ, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011; 168, 904–912.
Tsankova, NM, Berton, O, Renthal, W, et al. Sustained hippocampal chromatin regulation in a mouse model of depression and antidepressant action. Nat Neurosci. 2006; 9, 519–525.
Jessberger, S, Nakashima, K, Clemenson, GD Jr, et al. Epigenetic modulation of seizure-induced neurogenesis and cognitive decline. J Neurosci. 2007; 27, 5967–5975.
Dong, E, Nelson, M, Grayson, DR, Costa, E, Guidotti, A. Clozapine and sulpiride but not haloperidol or olanzapine activate brain DNA demethylation. Proc Natl Acad Sci USA. 2008; 105, 13614–13619.
Dong, E, Chen, Y, Gavin, DP, Grayson, DR, Guidotti, A. Valproate induces DNA demethylation in nuclear extracts from adult mouse brain. Epigenetics. 2010; 5, 730–735.
Wang, Q, Xu, X, Li, J, et al. Lithium, an anti-psychotic drug, greatly enhances the generation of induced pluripotent stem cells. Cell Res. 2011; 21, 1424–1435.
Ma, DK, Jang, MH, Guo, JU, et al. Neuronal activity–induced gadd45b promotes epigenetic DNA demethylation and adult neurogenesis. Science. 2009; 323, 1074–1077.
Breitling, LP, Yang, R, Korn, B, Burwinkel, B, Brenner, H. Tobacco-smoking-related differential DNA methylation: 27 K discovery and replication. Am J Hum Genet. 2011; 88, 450–457.
Shenker, NS, Polidoro, S, van Veldhoven, K, et al. Epigenome-wide association study in the European Prospective Investigation into Cancer and Nutrition (EPIC-Turin) identifies novel genetic loci associated with smoking. Hum Mol Genet. 2013; 22, 843–851.
Waterland, RA, Jirtle, RL. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol. 2003; 23, 5293–5300.
Rimland, B. Controversies in the treatment of autistic children: vitamin and drug therapy. J Child Neurol. 1988; 3(Suppl.), S68–S72.
James, SJ, Cutler, P, Melnyk, S, et al. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr. 2004; 80, 1611–1617.
Moretti, P, Sahoo, T, Hyland, K, et al. Cerebral folate deficiency with developmental delay; autism; and response to folinic acid. Neurology. 2005; 64, 1088–1090.
Kucharski, R, Maleszka, J, Foret, S, Maleszka, R. Nutritional control of reproductive status in honeybees via DNA methylation. Science. 2008; 319, 1827–1830.
Yaoi, T, Itoh, K, Nakamura, K, et al. Genome-wide analysis of epigenomic alterations in fetal mouse forebrain after exposure to low doses of bisphenol A. Biochem Biophys Res Commun. 2008; 376, 563–567.
Gore, AC, Walker, DM, Zama, AM, Armenti, AE, Uzumcu, M. Early life exposure to endocrine-disrupting chemicals causes lifelong molecular reprogramming of the hypothalamus and premature reproductive aging. Mol Endocrinol. 2011; 25, 2157–2168.
Ma, DK, Jang, MH, Guo, JU, et al. Neuronal activity-induced Gadd45b promotes epigenetic DNA demethylation and adult neurogenesis. Science. 2009; 323, 1074–1077.
Ling, C, Rönn, T. Epigenetic adaptation to regular exercise in humans. Drug Discov Today. 2014; 19, 1015–1018.
Kondo, M, Gray, LJ, Pelka, GJ, et al. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome-Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci. 2008; 27, 3342–3350.
Lonetti, G, Angelucci, A, Morando, L, et al. Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol Psychiatry. 2010; 67, 657–665.
Nag, N, Moriuchi, JM, Peitzman, CG, et al. Environmental enrichment alters locomotor behaviour and ventricular volume in MeCP2 1lox mice. Behav Brain Res. 2009; 196, 44–48.
Kerr, B, Silva, PA, Walz, K, Young, JI. Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome. PLoS One. 2010; 5, e11534.
Luikenhuis, S, Giacometti, E, Beard, CF, Jaenisch, R. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc Natl Acad Sci USA. 2004; 101, 6033–6038.
Guy, J, Gan, J, Selfridge, J, Cobb, S, Bird, A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007; 315, 1143–1147.
Lioy, DT, Garg, SK, Monaghan, CE, et al. A role for glia in the progression of Rett’s syndrome. Nature. 2011; 475, 497–500.
Vecsler, M, Simon, AJ, Amariglio, N, Rechavi, G, Gak, E. MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. Epigenetics. 2010; 5, 61–67.
Abel, T, Zukin, RS. Epigenetic targets of HDAC inhibition in neurodegenerative and psychiatric disorders. Curr Opin Pharmacol. 2008; 8, 57–64.
Cassel, S, Carouge, D, Gensburger, C, et al. Fluoxetine and cocaine induce the epigenetic factors MeCP2 and MBD1 in adult rat brain. Mol Pharmacol. 2006; 70, 487–492.
Popp, C, Dean, W, Feng, S, et al. Genome-wide erasure of DNA methylation in mouse primordial germ cells is affected by AID deficiency. Nature. 2011; 463, 1101–1105.
Daxinger, L, Whitelaw, E. Transgenerational epigenetic inheritance: more questions than answers. Genome Res. 2010; 20, 1623–1628.
Horsthemke, B. Heritable germline epimutations in humans. Nat Genet. 2007; 39, 573–574.
Rakyan, VK, Chong, S, Champ, ME, et al. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci USA. 2003; 100, 2538–2543.
Relton, CL, Davey Smith, G. Two-step epigenetic Mendelian randomization: a strategy for establishing the causal role of epigenetic processes in pathways to disease. Int J Epidemiol. 2012; 41, 161–176.
Kappeler, L, Meaney, MJ. Epigenetics and parental effects. Bioessays. 2010; 32, 818–827.
Waterland, RA, Travisano, M, Tahiliani, KG. Diet-induced hypermethylation at agouti viable yellow is not inherited transgenerationally through the female. FASEB J. 2007; 21, 3380–3385.
Anway, MD, Cupp, AS, Uzumcu, M, Skinner, MK. Epigenetic transgenerational actions of endocrine disruptors and male fertility. Science. 2005; 308, 1466–1469, Erratum in: Science. 2010; 328, 690.
Manikkam, M, Tracey, R, Guerrero-Bosagna, C, Skinner, MK. Plastics derived endocrine disruptors (BPA, DEHP and DBP) induce epigenetic transgenerational inheritance of obesity, reproductive disease and sperm epimutations. PLoS One. 2013; 8, e55387.
Seong, KH, Li, D, Shimizu, H, Nakamura, R, Ishii, S. Inheritance of stress-induced, ATF-2-dependent epigenetic change. Cell. 2011; 145, 1049–1061.
Franklin, TB, Russig, H, Weiss, IC, et al. Epigenetic transmission of the impact of early stress across generations. Biol Psychiatry. 2010; 68, 408–415.
Champagne, FA, Weaver, IC, Diorio, J, et al. Maternal care associated with methylation of the estrogen receptor-alpha1b promoter and estrogen receptor-alpha expression in the medial preoptic area of female offspring. Endocrinology. 2006; 147, 2909–2915.
Martínez, D, Pentinat, T, Ribó, S, et al. In utero undernutrition in male mice programs liver lipid metabolism in the second-generation offspring involving altered lxra DNA methylation. Cell Metab. 2014; 19, 941–951.
Jones, B. Epigenetics: transgenerational effects of in utero malnutrition. Nat Rev Genet. 2014; 15, 364.
Xu, C, Spragni, E, Jacques, V, Rsche, JR, Gottesfeld, JM. Improved histone deacetylase inhibitors as therapeutics for the neurodegenerative disease Friedreich’s ataxia: a new synthetic route. Pharmaceuticals. 2011; 4, 1578–1590.
leiman, SF, Berlin, J, Basso, M, et al. Histone deacetylase inhibitors and mitramycin a impact a similar neuroprotective pathway at a crossroad between cancer and neurodegeneration. Pharmaceuticals. 2011; 4, 1183–1185.
Wiers, CE. Methylation and the human brain: towards a new discipline of imaging epigenetics. Eur Arch Psychiatry Clin Neurosci. 2012; 262, 271–273.
Lista, S, Garaci, FG, Toschi, N, Hampel, H. Imaging epigenetics in Alzheimer’s disease. Curr Pharm Des. 2013; 19, 6393–6415.
Wang, Y, Zhang, YL, Hennig, K, et al. Class I HDAC imaging using [(3)H]CI-994 autoradiography. Epigenetics. 2013; 8, 756–764.
Wang, C, Schroeder, FA, Hooker, JM. Visualizing epigenetics: current advances and advantages in HDAC PET imaging techniques. Neuroscience. 2014; 264, 186–197.