ArticleGenome research2014
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.
Article in Genome research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 222 papers, 3 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
222 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- DNA methylation in peripheral tissues and left-handedness.Scientific reports · 2022Pooled it
- Pooled it
- DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.American journal of human genetics · 2016Pooled it
- Analyses of child cardiometabolic phenotype following assisted reproductive technologies using a pragmatic trial emulation approach.Nature communications · 2021Trial
- A randomized controlled trial of folic acid intervention in pregnancy highlights a putative methylation-regulated control element at ZFP57.Clinical epigenetics · 2019Trial
- Nanopore sequencing identifies parent-of-origin specific age-associated methylation changes at imprinted loci in the human genome.Nature communications · 2026Article
- Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.Science advances · 2026Article
- Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients.Clinical epigenetics · 2026Article
- The complete genome of the KOLF2.1J reference iPSC line.bioRxiv : the preprint server for biology · 2026Article
- Associations of arsenic exposure and folate in maternal leukocyte DNA methylation: a case-control study of mothers with spina-bifida affected children.Environmental health : a global access science source · 2026Article
- The superpowers of imprinting control regions.Genome research · 2026Review
- Species-Specific Parent-Of-Origin Expression of Adam23 in the Mammalian Brain.Genes to cells : devoted to molecular & cellular mechanisms · 2026Article
- Article
- Maternal Nutritional Status Governs Fetal Development by Modulating Imprinting Gene GAB1-Mediated Trophoblast Differentiation in the Placenta.Cell proliferation · 2025Article
- Article
- An allele-resolved nanopore-guided tour of the human placental methylome.Nature communications · 2025Article
- Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.Clinical epigenetics · 2025Article
- Optimized derivation and culture system of human naïve pluripotent stem cells with enhanced DNA methylation status and genomic stability.Protein & cell · 2025Article
- Divergent roles of DNA methylation, TRIM28, and p53 surveillance in human embryonic and trophoblast stem cells.bioRxiv : the preprint server for biology · 2025Article
- Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.Clinical epigenetics · 2025Article
162 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
Differential methylation between the two alleles of a gene has been observed in imprinted regions, where the methylation of one allele occurs on a parent-of-origin basis, the inactive X-chromosome in females, and at those loci whose methylation is driven by genetic variants. We have extensively characterized imprinted methylation in a substantial range of normal human tissues, reciprocal genome-wide uniparental disomies, and hydatidiform moles, using a combination of whole-genome bisulfite sequencing and high-density methylation microarrays. This approach allowed us to define methylation profiles at known imprinted domains at base-pair resolution, as well as to identify 21 novel loci harboring parent-of-origin methylation, 15 of which are restricted to the placenta. We observe that the extent of imprinted differentially methylated regions (DMRs) is extremely similar between tissues, with the exception of the placenta. This extra-embryonic tissue often adopts a different methylation profile compared to somatic tissues. Further, we profiled all imprinted DMRs in sperm and embryonic stem cells derived from parthenogenetically activated oocytes, individual blastomeres, and blastocysts, in order to identify primary DMRs and reveal the extent of reprogramming during preimplantation development. Intriguingly, we find that in contrast to ubiquitous imprints, the majority of placenta-specific imprinted DMRs are unmethylated in sperm and all human embryonic stem cells. Therefore, placental-specific imprinting provides evidence for an inheritable epigenetic state that is independent of DNA methylation and the existence of a novel imprinting mechanism at these loci.
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