Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (604 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the dna methylation pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Imprinting, Genomic; Imprinting, Genetic; Genetic Imprinting; Parental Imprinting; Imprinting, Parental.
Where it fits in the MeSH classification
- Broader topics
- Epigenesis, Genetic
- See also
- DNA Methylation
Related concepts
- Dna Methylation
Research landscape
PubMed indexes 7,435 records tagged with the MeSH heading “Genomic Imprinting” (counts retrieved 2026-10-29). 877 of them (11.8%) were published from 2020 onward, and the busiest period so far is 2000-2009 with 2,838 records.
Reviews account for 1,678 records (22.6%) and meta-analyses for 12. Randomized controlled trials number 7 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 1,159 |
| 2000-2009 | 2,838 |
| 2010-2019 | 2,561 |
| 2020 onward | 877 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 1,678 | 22.6% |
| Meta-analyses | 12 | 0.2% |
| Randomized controlled trials | 7 | 0.1% |
Method: PubMed query "Genomic Imprinting"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| ZNF445 is a primary regulator of genomic imprinting | 2019 | Research article Design not recorded in structured metadata | 170 | cc by PMID 30602440 · DOI · PMC6317318 |
| LncRNA Structural Characteristics in Epigenetic Regulation | 2017 | Review article Design not recorded in structured metadata | 144 | cc by PMID 29292750 · DOI · PMC5751261 |
| Using long-read sequencing to detect imprinted DNA methylation | 2019 | Research article Design not recorded in structured metadata | 117 | cc by PMID 30793194 · DOI · PMC6486641 |
| mRNA 3' UTRs direct microRNA degradation to participate in imprinted gene networks and regulate growth | 2026 | Research article Design not recorded in structured metadata | 3 | cc by PMID 41871909 · DOI · PMC13041716 |
ZNF445 is a primary regulator of genomic imprinting [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation, causing parental origin-specific monoallelic gene expression.
- Closing excerpt
- In mice, ZFP445 and ZFP57 act together, maintaining all but one ICR in vivo, whereas earlier embryonic expression of ZNF445 and its intolerance to loss-of-function mutations indicate greater importance in the maintenance of human imprints.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (102 words)
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation, causing parental origin-specific monoallelic gene expression. Zinc finger protein 57 (ZFP57) is critical for maintenance of this epigenetic memory during post-fertilization reprogramming, yet incomplete penetrance of ZFP57 mutations in humans and mice suggests additional effectors. We reveal that ZNF445/ZFP445, which we trace to the origins of imprinting, binds imprinting control regions (ICRs) in mice and humans. In mice, ZFP445 and ZFP57 act together, maintaining all but one ICR in vivo, whereas earlier embryonic expression of ZNF445 and its intolerance to loss-of-function mutations indicate greater importance in the maintenance of human imprints.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 30602440 · DOI · PMC6317318
LncRNA Structural Characteristics in Epigenetic Regulation [2]
Abstract reading summary — source excerpts
- Opening excerpt
- The rapid development of new generation sequencing technology has deepened the understanding of genomes and functional products.
- Closing excerpt
- This paper mainly discusses the correlation between the structure and function of lncRNAs with the recent progress in epigenetic regulation, which is important to the understanding of the mechanism of lncRNAs in physiological and pathological processes.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (122 words)
The rapid development of new generation sequencing technology has deepened the understanding of genomes and functional products. RNA-sequencing studies in mammals show that approximately 85% of the DNA sequences have RNA products, for which the length greater than 200 nucleotides (nt) is called long non-coding RNAs (lncRNA). LncRNAs now have been shown to play important epigenetic regulatory roles in key molecular processes, such as gene expression, genetic imprinting, histone modification, chromatin dynamics, and other activities by forming specific structures and interacting with all kinds of molecules. This paper mainly discusses the correlation between the structure and function of lncRNAs with the recent progress in epigenetic regulation, which is important to the understanding of the mechanism of lncRNAs in physiological and pathological processes.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 29292750 · DOI · PMC5751261
Using long-read sequencing to detect imprinted DNA methylation [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Systematic variation in the methylation of cytosines at CpG sites plays a critical role in early development of humans and other mammals.
- Closing excerpt
- Our analysis successfully identifies known imprinting control regions (ICRs) as well as some novel differentially methylated regions which, due to their proximity to hitherto unknown monoallelically expressed genes, may represent new ICRs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (179 words)
Systematic variation in the methylation of cytosines at CpG sites plays a critical role in early development of humans and other mammals. Of particular interest are regions of differential methylation between parental alleles, as these often dictate monoallelic gene expression, resulting in parent of origin specific control of the embryonic transcriptome and subsequent development, in a phenomenon known as genomic imprinting. Using long-read nanopore sequencing we show that, with an average genomic coverage of ∼10, it is possible to determine both the level of methylation of CpG sites and the haplotype from which each read arises. The long-read property is exploited to characterize, using novel methods, both methylation and haplotype for reads that have reduced basecalling precision compared to Sanger sequencing. We validate the analysis both through comparison of nanopore-derived methylation patterns with those from Reduced Representation Bisulfite Sequencing data and through comparison with previously reported data. Our analysis successfully identifies known imprinting control regions (ICRs) as well as some novel differentially methylated regions which, due to their proximity to hitherto unknown monoallelically expressed genes, may represent new ICRs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 30793194 · DOI · PMC6486641
mRNA 3' UTRs direct microRNA degradation to participate in imprinted gene networks and regulate growth [4]
Abstract reading summary — source excerpts
- Opening excerpt
- MicroRNAs direct downregulation of target mRNAs.
- Closing excerpt
- Thus, 3' UTRs can participate in parental conflict not only by regulating protein production but also by engaging TDMD to access an additional layer of regulation within a network of imprinted and biallelic genes.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (201 words)
MicroRNAs direct downregulation of target mRNAs. Sometimes, however, this regulatory paradigm inverts, and a target RNA triggers degradation of a microRNA. This target-directed microRNA degradation (TDMD) requires ZSWIM8. Zswim8 -/- mice exhibit reduced growth and perinatal lethality, accompanied by stabilization of >40 microRNAs. Nonetheless, studies of TDMD function in mammals have been limited because only two TDMD-triggering RNAs have been identified in mice. Here, we computationally identify and validate five new TDMD-triggering sites in mouse models. One site in Atp6v1g1 and two sites in Lpar4 direct degradation of miR-335-3p, showing that in mammals, two sites in the same transcript and multiple sites in different transcripts can collaborate to destabilize a microRNA. Moreover, sites in Plagl1 and Lrrc58 direct degradation of miR-322 and miR-503, respectively. Mice lacking the Plagl1 and Lrrc58 sites were smaller, demonstrating that target-directed degradation of miR-322 and miR-503 promotes growth. Both miR-335-3p and Plagl1 are maternally imprinted, implying their participation in parental conflict, but their corresponding triggers or target microRNA partners are not imprinted. Thus, 3' UTRs can participate in parental conflict not only by regulating protein production but also by engaging TDMD to access an additional layer of regulation within a network of imprinted and biallelic genes.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41871909 · DOI · PMC13041716
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Genomic imprinting in mammals [5]
- Research article Genomic Imprinting and Physiological Processes in Mammals [6]
- Research article Mammalian genomic imprinting [7]
- Research article Genomic imprinting disorders: lessons on how genome, epigenome and environment interact [8]
- Research article Mechanisms regulating imprinted genes in clusters [9]
- Research article The long and the short of noncoding RNAs [10]
References
- Takahashi N, Coluccio A, Thorball CW, Planet E, Shi H, Offner S, et al.. ZNF445 is a primary regulator of genomic imprinting. . 2019. PMID 30602440 · DOI · PMC6317318
- Wang C, Wang L, Ding Y, Lu X, Zhang G, Yang J, et al.. LncRNA Structural Characteristics in Epigenetic Regulation. . 2017. PMID 29292750 · DOI · PMC5751261
- Gigante S, Gouil Q, Lucattini A, Keniry A, Beck T, Tinning M, et al.. Using long-read sequencing to detect imprinted DNA methylation. . 2019. PMID 30793194 · DOI · PMC6486641
- Lin DH, Elcavage LE, Khalizeva E, Bartel DP. mRNA 3' UTRs direct microRNA degradation to participate in imprinted gene networks and regulate growth. . 2026. PMID 41871909 · DOI · PMC13041716
- Barlow DP, Bartolomei MS. Genomic imprinting in mammals. Cold Spring Harb Perspect Biol. 2014. PMID 24492710 · DOI · PMC3941233
- Tucci V, Isles AR, Kelsey G, Ferguson-Smith AC, Erice Imprinting Group. Genomic Imprinting and Physiological Processes in Mammals. Cell. 2019. PMID 30794780 · DOI
- Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harb Perspect Biol. 2011. PMID 21576252 · DOI · PMC3119911
- Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. Nat Rev Genet. 2019. PMID 30647469 · DOI
- Edwards CA, Ferguson-Smith AC. Mechanisms regulating imprinted genes in clusters. Curr Opin Cell Biol. 2007. PMID 17467259 · DOI
- Brosnan CA, Voinnet O. The long and the short of noncoding RNAs. Curr Opin Cell Biol. 2009. PMID 19447594 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.