ArticleMolecular and cellular biology2002
Analysis of sequence upstream of the endogenous H19 gene reveals elements both essential and dispensable for imprinting.
Article in Molecular and cellular biology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 78 citations in OpenAlex.
- Igf2 adult-specific skeletal muscle enhancer activity revealed in mice with intergenic CTCF boundary deletion.PLoS genetics · 2025Article
- Rescuing DNMT1 fails to fully reverse the molecular and functional repercussions of its loss in mouse embryonic stem cells.Nucleic acids research · 2025Article
- DysregulatedeLife · 2022Article
- Orientation of mouse H19 ICR affects imprinted H19 gene expression through promoter methylation-dependent and -independent mechanisms.Communications biology · 2021Article
- The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.Human molecular genetics · 2021Article
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.Disease models & mechanisms · 2020Review
- Temporal regulation of prenatal embryonic development by paternal imprinted loci.Science China. Life sciences · 2020Article
- Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.PLoS genetics · 2018Article
- Two approaches reveal a new paradigm of 'switchable or genetics-influenced allele-specific DNA methylation' with potential in human disease.Cell discovery · 2017Article
- Prohibitin 1 Regulates the H19-Igf2 Axis and Proliferation in Hepatocytes.The Journal of biological chemistry · 2016Article
- Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- An assessment of molecular pathways of obesity susceptible to nutrient, toxicant and genetically induced epigenetic perturbation.The Journal of nutritional biochemistry · 2016Review
- Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant.Genes & development · 2016Article
- Bisphenol a exposure disrupts metabolic health across multiple generations in the mouse.Endocrinology · 2015Article
- Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region.Human molecular genetics · 2014Article
- Nonallelic transcriptional roles of CTCF and cohesins at imprinted loci.Molecular and cellular biology · 2011Article
- Novel cis-regulatory function in ICR-mediated imprinted repression of H19.Developmental biology · 2011Article
- H19 imprinting control region methylation requires an imprinted environment only in the male germ line.Molecular and cellular biology · 2010Article
- The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region.Human molecular genetics · 2009Article
- Genomic imprinting: employing and avoiding epigenetic processes.Genes & development · 2009Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Imprinting of the linked and oppositely expressed mouse H19 and Igf2 genes requires a 2-kb differentially methylated domain (DMD) that is located 2 kb upstream of H19. This element is postulated to function as a methylation-sensitive insulator. Here we test whether an additional sequence 5' of H19 is required for H19 and Igf2 imprinting. Because repetitive elements have been suggested to be important for genomic imprinting, the requirement of a G-rich repetitive element that is located immediately 3' to the DMD was first tested in two targeted deletions: a 2.9-kb deletion (Delta D MD Delta G) that removes the DMD and G-rich repeat and a 1.3-kb deletion (Delta G) removing only the latter. There are also four 21-bp GC-rich repetitive elements within the DMD that bind the insulator-associated CTCF (CCCTC-binding factor) protein and are implicated in mediating methylation-sensitive insulator activity. As three of the four repeats of the 2-kb DMD were deleted in the initial 1.6-kb Delta DMD allele, we analyzed a 3.8-kb targeted allele (Delta 3.8kb-5'H19), which deletes the entire DMD, to test the function of the fourth repeat. Comparative analysis of the 5' deletion alleles reveals that (i) the G-rich repeat element is dispensable for imprinting, (ii) the Delta DMD and Delta DMD Delta G alleles exhibit slightly more methylation upon paternal transmission, (iii) removal of the 5' CTCF site does not further perturb H19 and Igf2 imprinting, suggesting that one CTCF-binding site is insufficient to generate insulator activity in vivo, (iv) the DMD sequence is required for full activation of H19 and Igf2, and (v) deletion of the DMD disrupts H19 and Igf2 expression in a tissue-specific manner.
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