Global DNA Hypermethylation in Down Syndrome Placenta
Open accessAbstract
Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed DNA hypermethylation in all autosomes in DS samples. We hypothesize that such global hypermethylation may be mediated by down-regulation of TET family genes involved in DNA demethylation, and down-regulation of REST/NRSF involved in transcriptional and epigenetic regulation. Genes located on chr21 were up-regulated by an average of 53% in DS compared to normal villi, while genes with promoter hypermethylation were modestly down-regulated. DNA methylation perturbation was conserved in DS placenta villi and in adult DS peripheral blood leukocytes, and enriched for genes known to be causally associated with DS phenotypes. Our data suggest that global epigenetic changes may occur early in development and contribute to DS phenotypes.
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Hypermethylation is associated with developmental defects, such as gestational diabetes and Down's syndrome.
“Moreover, hypermethylation is associated with developmental defects, such as gestational diabetes and Down’s syndrome [181, 182].”
From Air pollution and children’s health—a review of adverse effects associated with prenatal exposure from fine to ultrafine particulate matter (2021) · cites this paper as [182]
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Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.
Langmead, B., Trapnell, C., Pop, M., & Salzberg, S. L. (2009) · Genome Biology · doi:10.1186/gb-2009-10-3-r25 · Cited by 21,849 · see citing works
Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1
Tahiliani, M., Koh, K. P., Shen, Y., Pastor, W. A., Bandukwala, H., Brudno, Y., Agarwal, S., Iyer, L. M., Liu, D. R., Aravind, L., et al. (2009) · Science · doi:10.1126/science.1170116 · Cited by 5,836 · see citing works
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 · see citing works
Human DNA methylomes at base resolution show widespread epigenomic differences
Lister, R., Pelizzola, M., Dowen, R. H., Hawkins, R. D., Hon, G., Tonti-Filippini, J., Nery, J. R., Lee, L., Ye, Z., Ngo, Q.-M., et al. (2009) · Nature · doi:10.1038/nature08514 · Cited by 4,673 · see citing works
Tet proteins can convert 5-methylcytosine to 5-formylcytosine and 5-carboxylcytosine
Ito, S., Shen, L., Dai, Q., Wu, S. C., Collins, L. B., Swenberg, J. A., He, C., & Zhang, Y. (2011) · Science · doi:10.1126/science.1210597 · Cited by 3,451 · see citing works
Tet-Mediated Formation of 5-Carboxylcytosine and Its Excision by TDG in Mammalian DNA
He, Y., Li, B.-Z., Li, Z., Liu, P., Wang, Y., Tang, Q., Ding, J., Jia, Y., Chen, Z., Li, L., et al. (2011) · Science · doi:10.1126/science.1210944 · Cited by 2,776 · see citing works
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 · see citing works
DNA-binding factors shape the mouse methylome at distal regulatory regions
Stadler, M. B., Murr, R., Burger, L., Ivanek, R., Lienert, F., Schöler, A., Nimwegen, E. V., Wirbelauer, C., Oakeley, E. J., Gaidatzis, D., et al. (2011) · Nature · doi:10.1038/nature10716 · Cited by 1,383 · 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
DNA methylation profiling of human chromosomes 6, 20 and 22
Eckhardt, F., Lewin, J., Cortese, R., Rakyan, V. K., Attwood, J., Burger, M., Burton, J. H., Cox, T. V., Davies, R., Down, T. A., et al. (2006) · Nature Genetics · doi:10.1038/ng1909 · Cited by 1,350 · see citing works
Dynamic regulation of 5-hydroxymethylcytosine in mouse ES cells and during differentiation
Ficz, G., Branco, M. R., Seisenberger, S., Santos, F., Krueger, F., Hore, T. A., Marques, C. J., Andrews, S., & Reik, W. (2011) · Nature · doi:10.1038/nature10008 · Cited by 1,123 · see citing works
Dynamic changes in the human methylome during differentiationPreprint
Laurent, L. C., Wong, E., Li, G., Huynh, T., Tsirigos, A., Ong, C. T., Low, H. M., Sung, K. W. K., Rigoutsos, I., Loring, J. F., et al. (2010) · Genome Research · doi:10.1101/gr.101907.109 · Cited by 1,037 · 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
Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons
Feng, J., Zhou, Y., Campbell, S. L., Le, T., Li, E., Sweatt, J. D., Silva, A. J., & Fan, G. (2010) · Nature Neuroscience · doi:10.1038/nn.2514 · Cited by 1,019 · see citing works
The UCSC Genome Browser database: extensions and updates 2013
Meyer, L. R., Zweig, A. S., Hinrichs, A. S., Karolchik, D., Kuhn, R. M., Wong, M., Sloan, C. A., Rosenbloom, K. R., Roe, G. R., Rhead, B. L., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks1048 · Cited by 901 · see citing works
Dawlaty, M. M., Ganz, K., Powell, B. E., Hu, Y.-C., Markoulaki, S., Cheng, A. W., Gao, Q., Kim, J., Choi, S.-W., Page, D. C., et al. (2011) · Cell stem cell · doi:10.1016/j.stem.2011.07.010 · Cited by 508 · see citing works
Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813248106 · Cited by 399 · see citing works
Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.214 · Cited by 331 · see citing works
Contestabile, A., Fila, T., Ceccarelli, C., Bonasoni, P., Bonapace, L., Santini, D., Bartesaghi, R., & Ciani, E. (2007) · Hippocampus · doi:10.1002/hipo.20308 · Cited by 281 · see citing works
Guidi, S., Bonasoni, P., Ceccarelli, C., Santini, D., Gualtieri, F., Ciani, E., & Bartesaghi, R. (2008) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00113.x · Cited by 276 · see citing works
In psychosis, cortical interneurons overexpress DNA-methyltransferase 1
Veldić, M., Guidotti, A., Maloku, E., Davis, J. M., & Costa, E. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0409665102 · Cited by 269 · see citing works
Olig1 and Olig2 triplication causes developmental brain defects in down syndrome.
Chakrabarti, L., Best, T. K., Cramer, N. P., Carney, R. S. E., Isaac, J. T. R., Galdzicki, Z., & Haydar, T. F. (2010) · Nature Neuroscience · doi:10.1038/nn.2600 · Cited by 258 · see citing works
Kahlem, P., Sultan, M., Herwig, R., Steinfath, M., Balzereit, D., Eppens, B., Saran, N. G., Pletcher, M. T., South, S. T., Stetten, G., et al. (2004) · Genome Research · doi:10.1101/gr.1951304 · Cited by 249 · see citing works
Homocysteine Metabolism in Children with Down Syndrome: In Vitro Modulation
Pogribna, M., Melnyk, S., Pogribny, I. P., Chango, A., Yi, P., & James, S. J. (2001) · The American Journal of Human Genetics · doi:10.1086/321262 · Cited by 241 · see citing works
Bahn, S., Mimmack, M., Ryan, M., Caldwell, M. A., Jauniaux, E., Starkey, M., Svendsen, C. N., & Emson, P. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07497-4 · Cited by 211 · see citing works
Global up-regulation of chromosome 21 gene expression in the developing down syndrome brain
Mao, R., Zielke, C. L., Ronald Zielke, H., & Pevsner, J. (2003) · Genomics · doi:10.1016/s0888-7543(03)00035-1 · Cited by 207 · see citing works
Function and regulation of Dyrk1A: towards understanding Down syndrome
Park, J., Song, W., & Chung, K. C. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-0123-2 · Cited by 205 · see citing works
Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down SyndromePreprint
Lyle, R., Gehrig, C., Neergaard-Henrichsen, C., Deutsch, S., & Antonarakis, S. E. (2004) · Genome Research · doi:10.1101/gr.2090904 · Cited by 202 · see citing works
Transcriptome analysis of human autosomal trisomy
FitzPatrick, D. R. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.26.3249 · Cited by 198 · see citing works
Novakovic, B., Yuen, R. K. C., Gordon, L., Peñaherrera, M. S., Sharkey, A., Moffett, A., Craig, J. M., Robinson, W. P., & Saffery, R. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-529 · Cited by 192 · see citing works
Zhang, Y., Rohde, C., Tierling, S., Jurkowski, T. P., Bock, C., Santacruz, D., Ragozin, S., Reinhardt, R., Groth, M., Walter, J., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000438 · Cited by 162 · see citing works
Canzonetta, C., Mulligan, C., Deutsch, S., Ruf, S., O’Doherty, A., Lyle, R., Borel, C., Lin-Marq, N., Delom, F., Groet, J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.012 · Cited by 158 · see citing works
Lepagnol-Bestel, A.-M., Zvara, Á., Maussion, G., Quignon, F., Ngimbous, B., Ramoz, N., Imbeaud, S., Loe-Mie, Y., Benihoud, K., Agier, N., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp047 · Cited by 137 · see citing works
Chim, S. S. C., Jin, S., Lee, T. Y. H., Lun, F. M. F., Lee, W. S., Chan, L. Y. S., Jin, Y., Yang, N., Tong, Y. K., Leung, T. Y., et al. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2007.098731 · Cited by 133 · see citing works
Self-citationSites of Differential DNA Methylation between Placenta and Peripheral Blood
Papageorgiou, E. A., Fiegler, H., Rakyan, V. K., Beck, S., Hultén, M. A., Lamnissou, K., Carter, N. P., & Patsalis, P. C. (2009) · American Journal Of Pathology · doi:10.2353/ajpath.2009.081038 · Cited by 116 · see citing works
Altered DNA Methylation in Leukocytes with Trisomy 21
Kerkel, K., Schupf, N., Hatta, K., Pang, D. I., Salas, M. C., Kratz, A. F., Minden, M. D., Murty, V. V. V. S., Zigman, W. B., Mayeux, R. P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001212 · Cited by 114 · see citing works
Significance analysis and statistical dissection of variably methylated regions
Jaffe, A. E., Feinberg, A. P., Irizarry, R. A., & Leek, J. T. (2011) · Biostatistics · doi:10.1093/biostatistics/kxr013 · Cited by 100 · see citing works
Is it possible to improve neurodevelopmental abnormalities in Down syndrome?
Bartesaghi, R., Guidi, S., & Ciani, E. (2011) · Reviews in the Neurosciences · doi:10.1515/rns.2011.037 · Cited by 74 · see citing works
Massive-Scale RNA-Seq Analysis of Non Ribosomal Transcriptome in Human Trisomy 21
Costa, V., Angelini, C., D’Apice, L., Mutarelli, M., Casamassimi, A., Sommese, L., Gallo, M. A., Aprile, M., Esposito, R., Leone, L., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018493 · Cited by 70 · see citing works
Chu, T., Burke, B., Bunce, K. D., Surti, U., Hogge, W. A., & Peters, D. G. (2009) · Prenatal Diagnosis · doi:10.1002/pd.2335 · Cited by 57 · see citing works
Gene Network Disruptions and Neurogenesis Defects in the Adult Ts1Cje Mouse Model of Down Syndrome
Hewitt, C., Ling, K., Merson, T. D., Simpson, K., Ritchie, M. E., King, S. L., Pritchard, M. A., Smyth, G. K., Thomas, T., Scott, H. S., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0011561 · Cited by 55 · see citing works
Costa, A. C. S. (2011) · Developmental Neuroscience · doi:10.1159/000330861 · Cited by 44 · see citing works
Genome-wide expression analysis of cultured trophoblast with trisomy 21 karyotype
Rozovski, U., Grossman-Jonish, A., Bar‐Shira, A., Ochshorn, Y., Goldstein, M., & Yaron, Y. (2007) · Human Reproduction · doi:10.1093/humrep/dem214 · Cited by 43 · see citing works
Eckmann-Scholz, C., Bens, S., Kolarova, J., Schneppenheim, S., Caliebe, A., Heidemann, S., von Kaisenberg, C., Kautza, M., Jonat, W., Siebert, R., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039014 · Cited by 40 · see citing works
REST: Transcriptional and Epigenetic Regulator
Bithell, A. (2011) · Epigenomics · doi:10.2217/epi.10.76 · Cited by 35 · see citing works
Aberrant epigenetic landscape in intellectual disability
Sanchez-Mut, J. V., Huertas, D., & Esteller, M. (2012) · Progress in brain research · doi:10.1016/b978-0-444-54299-1.00004-2 · Cited by 30 · see citing works
Nisihara, R., Utiyama, S. R. R., Oliveira, N. P., & Messias-Reason, I. (2009) · Human Immunology · doi:10.1016/j.humimm.2009.09.361 · Cited by 28 · see citing works
Down Syndrome: A Complex and Interactive Genetic Disorder
Samantha, L., Joshua, D., Jeffrey, P. D., & Randall, J. (2011) · InTech eBooks · doi:10.5772/18436 · Cited by 4 · see citing works
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Environmental Influences on the Epigenome: Exposure- Associated DNA Methylation in Human Populations
Martin, E. M., & Fry, R. C. (2018) · Annual Review of Public Health · doi:10.1146/annurev-publhealth-040617-014629 · Cited by 640 · see citing works
Johnson, N. M., Hoffmann, A. R., Behlen, J. C., Lau, C., Pendleton, D., Harvey, N., Shore, R., Li, Y., Chen, J., Tian, Y., et al. (2021) · Environmental Health and Preventive Medicine · doi:10.1186/s12199-021-00995-5 · Cited by 339 · see citing works
“Moreover, hypermethylation is associated with developmental defects, such as gestational diabetes and Down’s syndrome [181, 182].”
BackgroundDNA methylation dynamics in aging: how far are we from understanding the mechanisms?
Ciccarone, F., Tagliatesta, S., Caiafa, P., & Zampieri, M. (2017) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2017.12.002 · Cited by 184 · see citing works
Mosaicism for trisomy 21: A review
Papavassiliou, P., Charalsawadi, C., Rafferty, K. A., & Jackson‐Cook, C. K. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36861 · Cited by 166 · see citing works
Vulnerability of primitive human placental trophoblast to Zika virus
Sheridan, M. A., Yunusov, D., Balaraman, V., Alexenko, A. P., Yabe, S., Verjovski‐Almeida, S., Schust, D. J., Franz, A. W. E., Sadovsky, Y., Ezashi, T., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1616097114 · Cited by 164 · see citing works
Dosage compensation of the sex chromosomes and autosomes
Distèche, C. M. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2016.04.013 · Cited by 125 · see citing works
Prenatal epigenetics diets play protective roles against environmental pollution
Li, S., Chen, M., Li, Y., & Tollefsbol, T. O. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0659-4 · Cited by 128 · see citing works
Identification of a DNA methylation signature in blood cells from persons with Down Syndrome
Bacalini, M. G., Gentilini, D., Boattini, A., Giampieri, E., Pirazzini, C., Giuliani, C., Fontanesi, E., Scurti, M., Remondini, D., Capri, M., et al. (2014) · Aging · doi:10.18632/aging.100715 · Cited by 121 · see citing works
The Human Placental MethylomePreprint
Robinson, W. P., & Price, E. M. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a023044 · Cited by 102 · see citing works
Epigenetic dysregulation in the developing Down syndrome cortex
Hajj, N. E., Dittrich, M. T., Böck, J., Kraus, T. F. J., Nanda, I., Müller, T., Seidmann, L., Tralau, T., Galetzka, D., Schneider, E., et al. (2016) · Epigenetics · doi:10.1080/15592294.2016.1192736 · Cited by 90 · see citing works
Down syndrome: Neurobiological alterations and therapeutic targets
Vacca, R. A., Bawari, S., Valenti, D., Tewari, D., Nabavi, S. F., Shirooie, S., Sah, A. N., Volpicella, M., Braidy, N., & Nabavi, S. M. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.01.001 · Cited by 90 · see citing works
Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in down syndrome
Jones, M. J., Farré, P., McEwen, L. M., MacIsaac, J. L., Watt, K., Neumann, S., Emberly, E. G., Cynader, M. S., Virji‐Babul, N., & Kobor, M. S. (2013) · BMC Medical Genomics · doi:10.1186/1755-8794-6-58 · Cited by 87 · see citing works
Mendióroz, M., Do, C., Jiang, X., Liu, C., Darbary, H. K., Lang, C. F., Lin, J. P., Thomas, A. C., Abu-Amero, S. N., Stanier, P., et al. (2015) · Genome biology · doi:10.1186/s13059-015-0827-6 · Cited by 85 · see citing works
Epigenetic dysregulation of protocadherins in human disease
Hajj, N. E., Dittrich, M. T., & Haaf, T. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.07.007 · Cited by 76 · see citing works
Epigenetics: The neglected key to minimize learning and memory deficits in Down syndrome
Dekker, A. D., Deyn, P. P. D., & Rots, M. G. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.05.004 · Cited by 62 · see citing works
Global hypermethylation in fetal cortex of Down syndrome due to DNMT3L overexpression
Lu, J., Mccarter, M., Lian, G., Esposito, G., Capoccia, E., Delli-Bovi, L. C., Hecht, J. L., & Sheen, V. L. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw043 · Cited by 61 · see citing works
Lim, Y. C., Li, J., Ni, Y., Liang, Q. H., Zhang, J., Yeo, G. S., Lyu, J., Jin, S., & Ding, C. (2017) · PLoS ONE · doi:10.1371/journal.pone.0181155 · Cited by 60 · see citing works
Self-citationEpigenetic mechanisms of particulate matter exposure: air pollution and hazards on human health
Covarrubias, D. G., Ramírez‐Díaz, I., Guzmán-Linares, J., Limón, I. D., Manuel-Sánchez, D. M., Molina-Herrera, A., Coral-García, M. Á., Anastasio, E., Anaya‐Hernández, A., López‐Salazar, P., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2023.1306600 · Cited by 62 · see citing works
Ondičová, M., Irwin, R. E., Thursby, S.-J., Hilman, L., Caffrey, A., Cassidy, T., McLaughlin, M., Lees‐Murdock, D. J., Ward, M., Murphy, M. M., et al. (2022) · Clinical Epigenetics · doi:10.1186/s13148-022-01282-y · Cited by 56 · see citing works
Laufer, B. I., Hwang, H., Jianu, J. M., Mordaunt, C. E., Korf, I. F., Hertz‐Picciotto, I., & LaSalle, J. M. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa218 · Cited by 51 · see citing works
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
Sailani, M. R., Santoni, F. A., Letourneau, A., Borel, C., Makrythanasis, P., Hibaoui, Y., Popadin, K. Y., Bonilla, X., Guipponi, M., Gehrig, C., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0135555 · Cited by 49 · see citing works
Laufer, B. I., Hwang, H., Ciernia, A. V., Mordaunt, C. E., & LaSalle, J. M. (2019) · Epigenetics · doi:10.1080/15592294.2019.1609867 · Cited by 47 · see citing works
Stem and progenitor cell dysfunction in human trisomies
Liu, B., Filippi, S. L., Roy, A., & Roberts, I. A. G. (2014) · EMBO Reports · doi:10.15252/embr.201439583 · Cited by 42 · see citing works
Dynamic DNA methylation landscape defines brown and white cell specificity during adipogenesis
Lim, Y. C., Chia, S. Y., Jin, S., Han, W., Ding, C., & Sun, L. (2016) · Molecular Metabolism · doi:10.1016/j.molmet.2016.08.006 · Cited by 43 · see citing works
Self-citationREST Is Not Resting: REST/NRSF in Health and Disease
Jin, L., Liu, Y., Wu, Y., Huang, Y., & Zhang, D. (2023) · Biomolecules · doi:10.3390/biom13101477 · Cited by 40 · see citing works
Targeting Mitochondrial Network Architecture in Down Syndrome and Aging
Mollo, N., Cicatiello, R., Aurilia, M., Scognamiglio, R., Genesio, R., Charalambous, M., Paladino, S., Conti, A. M. F., Nitsch, L., & Izzo, A. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21093134 · Cited by 39 · see citing works
Aneuploidy and Gene Expression: Is there Dosage Compensation?
Kojima, S., & Cimini, D. (2019) · Epigenomics · doi:10.2217/epi-2019-0135 · Cited by 39 · see citing works
Detection strategies for methylated and hypermethylated DNA
Taleat, Z., Mathwig, K., Sudhölter, E. J. R., & Rassaei, L. (2015) · TrAC Trends in Analytical Chemistry · doi:10.1016/j.trac.2014.11.013 · Cited by 34 · see citing works
Laan, L., Klar, J., Sobol, M., Hoeber, J., Shahsavani, M., Kele, M., Fatima, A., Zakaria, M., Annerén, G., Falk, A., et al. (2020) · Clinical Epigenetics · doi:10.1186/s13148-019-0803-1 · Cited by 33 · see citing works
Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates
Henneman, P., Bouman, A., Mul, A. N. P. M., Knegt, L. C., van der Kevie-Kersemaekers, A.-M. F., Zwaveling‐Soonawala, N., Meijers-Heijboer, H. E. J., van Trotsenburg, A. S. P., & Mannens, M. M. A. M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0194938 · Cited by 32 · see citing works
Mouse-based genetic modeling and analysis of Down syndrome
Xing, Z., Li, Y., Pao, A., Bennett, A. S., Tycko, B., Mobley, W. C., & Yu, Y. E. (2016) · British Medical Bulletin · doi:10.1093/bmb/ldw040 · Cited by 30 · see citing works
Trisomy 21 and Assisted Reproductive Technologies: A review
Sánchez-Pavón, E., Mendoza, H., & García-Ferreyra, J. (2021) · JBRA · doi:10.5935/1518-0557.20210047 · Cited by 29 · see citing works
Yu, Y. E., Xing, Z., Do, C., Pao, A., Lee, E. J., Krinsky‐McHale, S. J., Silverman, W. P., Schupf, N., & Tycko, B. (2020) · Progress in brain research · doi:10.1016/bs.pbr.2019.09.002 · Cited by 27 · see citing works
Ciccarone, F., Valentini, E., Malavolta, M., Zampieri, M., Bacalini, M. G., Calabrese, R., Guastafierro, T., Reale, A., Franceschi, C., Capri, M., et al. (2017) · The Journals of Gerontology Series A · doi:10.1093/gerona/glx198 · Cited by 25 · see citing works
Qiu, J., Liu, Y.-N., Ren, Z., & Yan, J. (2017) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2017.09.017 · Cited by 23 · see citing works
Gordevičius, J., Narmontė, M., Gibas, P., Kvederavičiūtė, K., Tomkutė, V., Paluoja, P., Krjutškov, K., Salumets, A., & Kriukienė, E. (2020) · Clinical Epigenetics · doi:10.1186/s13148-020-00938-x · Cited by 23 · see citing works
MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome
Asim, A., Agarwal, S., Panigrahi, I., Saiyed, N., & Bakshi, S. R. (2017) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2017.01068 · Cited by 22 · see citing works
DSCR1‐mediated TET1 splicing regulates miR‐124 expression to control adult hippocampal neurogenesis
Choi, C., Kim, T., Chang, K. T., & Min, K. (2019) · The EMBO Journal · doi:10.15252/embj.2018101293 · Cited by 21 · see citing works
Hatt, L., Aagaard, M. M., Bach, C. C., Graakjær, J., Sommer, S., Agerholm, I., Kølvraa, S., & Bojesen, A. (2016) · PLoS ONE · doi:10.1371/journal.pone.0160319 · Cited by 20 · see citing works
Rethinking intellectual disability from neuro- to astro-pathology.
Fernández-Blanco, Á., & Dierssen, M. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239039 · Cited by 19 · see citing works
Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders
Toma, I. D., Manubens-Gil, L., Ossowski, S., & Dierssen, M. (2016) · Neural Plasticity · doi:10.1155/2016/4235898 · Cited by 19 · see citing works
Down Syndrome, Ageing and Epigenetics
Gensous, N., Franceschi, C., Salvioli, S., Garagnani, P., & Bacalini, M. G. (2019) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-981-13-3681-2_7 · Cited by 19 · see citing works
Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development
Tolmacheva, E. N., Vasilyev, S. А., & Лебедев, И. Н. (2020) · Genes · doi:10.3390/genes11091084 · Cited by 20 · see citing works
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & Yin, J. (2020) · Stem Cell Research & Therapy · doi:10.1186/s13287-020-02053-3 · Cited by 19 · see citing works
Adams, A. D., Guedj, F., & Bianchi, D. W. (2019) · Placenta · doi:10.1016/j.placenta.2019.10.002 · Cited by 18 · see citing works
Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network
Li, B., Balasubramanian, K., Krakow, D., & Cohn, D. H. (2017) · BMC Genomics · doi:10.1186/s12864-017-4378-y · Cited by 18 · see citing works
Transcriptome-wide analysis of the SCNT bovine abnormal placenta during mid- to late gestation
Gao, G., Wang, S., Zhang, J., Su, G., Zheng, Z., Bai, C., Yang, L., Wei, Z., Wang, X., Liu, X., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-56566-w · Cited by 17 · see citing works
Self-citationChatterjee, A., Macaulay, E. C., Ahn, A., Ludgate, J. L., Stockwell, P. A., Weeks, R. J., Parry, M. F., Foster, T. J., Knarston, I. M., Eccles, M. R., et al. (2017) · Epigenomics · doi:10.2217/epi-2016-0176 · Cited by 17 · see citing works
Martín-del-Campo, R., Bárcenas-Ibarra, A., Lund, G., Rodríguez-Ríos, D., Yong-Villalobos, L., García-Hernández, J., & García-Gasca, A. (2019) · Veterinary Pathology-Supplement · doi:10.1177/0300985819868649 · Cited by 14 · see citing works
The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis
Papageorgiou, E. A., Koumbaris, G., Kypri, E., Hadjidaniel, M. D., & Patsalis, P. C. (2014) · Genes · doi:10.3390/genes5020310 · Cited by 15 · see citing works
Lim, J. H., Kang, Y.-J., Lee, B. Y., Han, Y. J., Chung, J. H., Kim, M. Y., Kim, M. H., Kim, J., Cho, Y.-H., & Ryu, H. M. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0756-4 · Cited by 15 · see citing works
Comprehensive investigation of DNA methylation and gene expression in trisomy 21 placenta
Lim, J. H., Kim, S. Y., Han, J. Y., Kim, M. Y., Park, S. Y., & Ryu, H. M. (2016) · Placenta · doi:10.1016/j.placenta.2016.03.012 · Cited by 15 · see citing works
DNA Methylation Alterations in Blood Cells of Toddlers with Down Syndrome
Naumova, O. Y., Lipschutz, R. S., Rychkov, S. Y., Zhukova, O. V., & Grigorenko, E. L. (2021) · Genes · doi:10.3390/genes12081115 · Cited by 15 · see citing works
Laufer, B. I., Gomez, J. A., Jianu, J. M., & LaSalle, J. M. (2021) · Epigenetics & Chromatin · doi:10.1186/s13072-021-00387-7 · Cited by 15 · see citing works
Vasilyev, S. А., Tolmacheva, E. N., Vasilyeva, O. Y., Markov, A., Жигалина, Д. И., Zatula, L. A., Lee, V. A., Сергеевна, С. Е., Sazhenova, E. A., Tv, N., et al. (2020) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-020-02003-1 · Cited by 11 · see citing works
Down syndrome: from the age of characterization to the era of curative approach
Ganguly, B. B., & Kadam, N. N. (2016) · The Nucleus · doi:10.1007/s13237-016-0187-y · Cited by 11 · see citing works
Gamage, T. K. J. B., Schierding, W. S., Tsai, P., Ludgate, J. L., Chamley, L., Weeks, R. J., Macaulay, E. C., & James, J. L. (2018) · Biology Open · doi:10.1242/bio.034884 · Cited by 10 · see citing works
Mallik, S., & Zhao, Z. (2020) · Scientific Reports · doi:10.1038/s41598-020-78463-3 · Cited by 10 · see citing works
The Epigenetic Landscape of Aneuploidy: Constitutional Mosaicism Leading the Way?
Davidsson, J. (2014) · Epigenomics · doi:10.2217/epi.13.78 · Cited by 10 · see citing works
Hua, L., Sui, W., Li, W., Tan, Q., Chen, J., Lin, X., Guo, H., Ou, M., Xue, W., Zhang, R., et al. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.5775 · Cited by 10 · see citing works
Self-citationCejas, R. B., Wang, J., Blair, R. H., Liu, S., & Blanco, J. G. (2020) · Gene · doi:10.1016/j.gene.2020.145099 · Cited by 8 · see citing works
Chaudhary, V., Bhattacharjee, D., Devi, N. K., & Saraswathy, K. N. (2024) · Biochemical Genetics · doi:10.1007/s10528-023-10659-4 · Cited by 7 · see citing works
Lu, Z., Liu, Y., Ren, Z., & Yan, J. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.5375 · Cited by 7 · see citing works
González-Molina, L. A., Dekker, A. D., Deyn, P. P. D., Dolga, A. M., & Rots, M. G. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-18516-8.00014-4 · Cited by 6 · see citing works
Intricacies of aging and Down syndrome
Kozlov, G., Franceschi, C., & Vedunova, M. V. (2024) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2024.105794 · Cited by 6 · see citing works
Maheshwari, A., & Singh, S. (2024) · Newborn · doi:10.5005/jp-journals-11002-0112 · Cited by 6 · see citing works
Karimzadeh, M. R., Ehtesham, N., Mortazavi, D., Azhdari, S., Mosallaei, M., & Nezamnia, M. (2021) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2021.06.027 · Cited by 6 · see citing works
Placental biomarkers for the prediction of neurodevelopmental disorders
Patel, P. B., Ku, J., Uzoaru, I., & Goldstein, J. A. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1663960 · Cited by 5 · see citing works
Delayed atorvastatin delivery promotes recovery after experimental spinal cord injury
Buchl, S. C., Kim, H. N., Hur, B., Simon, W. L., Langley, M. R., Sung, J., & Scarisbrick, I. A. (2025) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00517 · Cited by 5 · see citing works
DNA methylation alterations in the genome of a toddler with cri‐du‐chat syndrome
Naumova, O. Y., Rychkov, S. Y., Kuznetzova, T. V., Odintsova, V. V., Kornilov, S. A., & Grigorenko, E. L. (2017) · Clinical Case Reports · doi:10.1002/ccr3.1274 · Cited by 5 · see citing works
Integrated analysis of DNA methylation and RNA-sequencing data in Down syndrome
Zhang, J., Zhou, W., Liu, Y., & Li, N. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.5778 · Cited by 4 · see citing works
Tyagi, S. C., Smolenkova, I. A., Zheng, Y., & Singh, M. (2025) · Biochemical Genetics · doi:10.1007/s10528-025-11038-x · Cited by 3 · see citing works
Ganguly, B. B., & Kadam, N. N. (2024) · Gene Reports · doi:10.1016/j.genrep.2024.102106 · Cited by 3 · see citing works
Eva, T. A., Shenoy, A., Gupta, V. B., Palanivel, V., Salkar, A., Nasab, S. N., Chitranshi, N., Mirzaei, M., You, Y., Graham, S. L., et al. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05304-7 · Cited by 2 · see citing works
Downstream Assays for Variant Resolution: Epigenetics, RNA Sequnncing, and Metabolomics.
Shayota, B. J. (2023) · The Pediatric clinics of North America · doi:10.1016/j.pcl.2023.05.006 · Cited by 4 · see citing works
Identification of a thymus microRNA‑mRNA regulatory network in Down syndrome
Chai, M., Su, L., Hao, X., Zhang, M., Zheng, L., Bi, J., Han, X., & Gao, C. (2019) · Molecular Medicine Reports · doi:10.3892/mmr.2019.10433 · Cited by 2 · see citing works
Swanson, E. C. (2014) · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · doi:10.13028/m2k30f · Cited by 1 · see citing works
Xie, H., Xue, Y., Deng, R., Chen, L., Wang, Y., Xu, J., Liu, H., Li, X., Cui, W., & Zhang, J. (2025) · Journal of Affective Disorders · doi:10.1016/j.jad.2025.120841 · Cited by 1 · see citing works
Multi-omics investigation of thyroid development and dysfunction in down syndrome
Lauffer, P., Zwaveling‐Soonawala, N., Yim, A. Y. F. L., van der Laan, L., van Zelderen‐Bhola, S. L., Venema, A., Mul, A. N. P. M., Bugiani, M., Rijnstra, E. S.-V., Gunst, Q. D., et al. (2026) · Human Molecular Genetics · doi:10.1093/hmg/ddag005 · Cited by 1 · see citing works
Reko, N., Torabi‐Marashi, A., Kallurkar, P. S., Goodman, S. J., Awamleh, Z., Turinsky, A. L., Grafodatskaya, D., Russell, B. E., Chong, K., Ko, J. M., et al. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.06.017 · Cited by 1 · see citing works
Dekker, A. D., Deyn, P. P. D., & Rots, M. G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800226-1.00009-5 · Cited by 1 · see citing works
Red cell folate status among a subset of Canadian children with Down Syndrome post‐fortification
Jory, J. (2022) · Journal of Intellectual Disability Research · doi:10.1111/jir.12925
MicroRNAs and epigenetic signatures in Down syndrome
Ganguly, B. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-90456-8.00011-9
Gene-dosage imbalance due to trisomic HSA21 and genotype–phenotype association in Down syndrome
Ganguly, B. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-90456-8.00005-3
WITHDRAWN: Intricacies of aging and down syndrome
Kozlov, G., Franceschi, C., & Vedunova, M. V. (2024) · Aspects of Molecular Medicine · doi:10.1016/j.amolm.2024.100035
RetractedIncreased methylation levels of the MTHFR gene promoter in Down syndrome
Majstorović, D., Stoccoro, A., Barišić, A., Buretić‐Tomljanović, A., Giangreco, M., Nicolì, V., Coppedè, F., & Vraneković, J. (2025) · Epigenomics · doi:10.1080/17501911.2025.2563501
Stoccoro, A., Majstorović, D., Sebastiani, V., Barišić, A., Vraneković, J., & Coppedè, F. (2025) · Epigenetics Communications · doi:10.1186/s43682-025-00039-x
Szatmári, P., Seres, A. B., Sztojkov‐Ivanov, A., Kékesi, G., Horváth, G., & Ducza, E. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1673124
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & Yin, J. (2020) · Figshare · doi:10.6084/m9.figshare.13468001
Gordevičius, J., Narmontė, M., Gibas, P., Kvederavičiūtė, K., Tomkutė, V., Paluoja, P., Krjutškov, K., Salumets, A., & Kriukienė, E. (2020) · Figshare · doi:10.6084/m9.figshare.13120830
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & Yin, J. (2020) · Figshare · doi:10.6084/m9.figshare.13467989
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & 尹靖东 (2020) · Figshare · doi:10.6084/m9.figshare.13467999
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & Yin, J. (2020) · Figshare · doi:10.6084/m9.figshare.13467985
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & 尹靖东 (2020) · Figshare · doi:10.6084/m9.figshare.13467991
Laufer, B. I., Gomez, J. A., Jianu, J. M., & LaSalle, J. M. (2021) · Figshare · doi:10.6084/m9.figshare.14189577
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & 尹靖东 (2020) · Figshare · doi:10.6084/m9.figshare.13467995
Johnson, N. M., Hoffmann, A. R., Behlen, J. C., Lau, C. H., Pendleton, D., Harvey, N., Shore, R. A., Li, Y., Chen, J., Tian, Y., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14966363
Zhang, X., Sun, W., He, L., Wang, L., Qiu, K., & 尹靖东 (2020) · Figshare · doi:10.6084/m9.figshare.13467997
- Authors
- Jin, S., Lee, Y. K., Lim, Y. C., Zheng, Z., Lin, X. M., Ng, D. P. Y., Holbrook, J. D., Law, H. Y., Kwek, K. Y. C., Yeo, G. S. H., & Ding, C.
- Affiliations
- Agency for Science, Technology and Research (SG)
- KK Women's and Children's Hospital (SG)
- Corresponding author
- Ding, Chunming
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-06-06
- Volume
- 9
- Issue
- 6
- Pages
- e1003515
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC3675012
- OpenAlex
- W2061191951
- Cited by
- 99
- References
- 48
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 7 · 2023: 2 · 2022: 5 · 2021: 7 · 2020: 19 · 2019: 11 · 2018: 3 · 2017: 10 · 2016: 13 · 2015: 4 · 2014: 7 · 2013: 1
- FWCI
- 8.52
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- National University of Singapore (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Funders
- Ministry of Earth Sciences
- Ministry of Education, India
- National Medical Research Council
- Biomedical Research Council
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Keywords
- Down syndrome, DNA hypermethylation, placenta, REST/NRSF, promoter hypermethylation, gene expression, epigenetic regulation, peripheral blood leukocytes, placental villi
- MeSH terms
- RE1-Silencing Transcription Factor, Chromosomes, Human, Pair 21, DNA-Binding Proteins, Down Syndrome, Female, Gene Expression Regulation, Humans, Mixed Function Oxygenases, Male, Placenta, Pregnancy, Promoter Regions, Genetic, Proto-Oncogene Proteins, Repressor Proteins, Sequence Analysis, DNA, CpG Islands, DNA Methylation, Epigenesis, Genetic, Dioxygenases
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