ArticleEpigenetics2014
Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.
Article in Epigenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age.Genome medicine · 2020Pooled it
- Trial
- Differential methylation at novel putative imprinting control regions on chromosome 20 associated with childhood obesity.Epigenetics · 2026Article
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- The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications.Physiological reviews · 2025Review
- Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.Clinical epigenetics · 2025Article
- Disruption of maternal vascular remodeling by a fetal endoretrovirus-derived gene in preeclampsia.Genome biology · 2024Article
- DNA methylation of imprint control regions associated with Alzheimer's disease in non-Hispanic Blacks and non-Hispanic Whites.Clinical epigenetics · 2024Article
- Review
- A 9.8 Mb deletion at 7q31.2q31.31 downstream ofClinical case reports · 2022Article
- Periconceptional Maternal Diet Characterized by High Glycemic Loading Is Associated with Offspring Behavior in NEST.Nutrients · 2021Article
- Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction.Journal of assisted reproduction and genetics · 2021Article
- Article
- Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.International journal of molecular sciences · 2019Review
- Allelic Switching ofInternational journal of genomics · 2019Article
- Using patient-derived iPSCs to develop humanized mouse models for chronic myelomonocytic leukemia and therapeutic drug identification, including liposomal clodronate.Scientific reports · 2018Article
- Maternal 5Frontiers in genetics · 2018Article
- Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Scientific reports · 2017Article
- Persistent DNA methylation changes associated with prenatal mercury exposure and cognitive performance during childhood.Scientific reports · 2017Article
- PEG10 overexpression induced by E2F-1 promotes cell proliferation, migration, and invasion in pancreatic cancer.Journal of experimental & clinical cancer research : CR · 2017Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA methylation is a hallmark of genomic imprinting and differentially methylated regions (DMRs) are found near and in imprinted genes. Imprinted genes are expressed only from the maternal or paternal allele and their normal balance can be disrupted by uniparental disomy (UPD), the inheritance of both chromosomes of a chromosome pair exclusively from only either the mother or the father. Maternal UPD for chromosome 7 (matUPD7) results in Silver-Russell syndrome (SRS) with typical features and growth retardation, but no gene has been conclusively implicated in SRS. In order to identify novel DMRs and putative imprinted genes on chromosome 7, we analyzed eight matUPD7 patients, a segmental matUPD7q31-qter, a rare patUPD7 case and ten controls on the Infinium HumanMethylation450K BeadChip with 30 017 CpG methylation probes for chromosome 7. Genome-scale analysis showed highly significant clustering of DMRs only on chromosome 7, including the known imprinted loci GRB10, SGCE/PEG10, and PEG/MEST. We found ten novel DMRs on chromosome 7, two DMRs for the predicted imprinted genes HOXA4 and GLI3 and one for the disputed imprinted gene PON1. Quantitative RT-PCR on blood RNA samples comparing matUPD7, patUPD7, and controls showed differential expression for three genes with novel DMRs, HOXA4, GLI3, and SVOPL. Allele specific expression analysis confirmed maternal only expression of SVOPL and imprinting of HOXA4 was supported by monoallelic expression. These results present the first comprehensive map of parent-of-origin specific DMRs on human chromosome 7, suggesting many new imprinted sites.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.