ArticleAmerican journal of human genetics2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 121 citations in OpenAlex.
- 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
- Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.Molecular genetics & genomic medicine · 2026Article
- A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.Clinical epigenetics · 2026Article
- Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.Clinical epigenetics · 2026Article
- Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.Genome medicine · 2026Article
- A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes.Genome medicine · 2025Article
- Investigation of methylation profiles in Silver-Russell syndrome to explore episignatures.Clinical epigenetics · 2025Article
- Father's adolescent body silhouette is associated with offspring asthma, lung function and BMI through DNA methylation.Communications biology · 2025Article
- Atlas of imprinted and allele-specific DNA methylation in the human body.Nature communications · 2025Article
- Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.Clinical epigenetics · 2025Article
- Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.Case reports in genetics · 2025Article
- Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Clinical epigenetics · 2024Article
- Article
- Characterization of the genetic determinants of context-specific DNA methylation in primary monocytes.Cell genomics · 2024Article
- A novel imprinted locus on bovine chromosome 18 homologous with human chromosome 16q24.1.Molecular genetics and genomics : MGG · 2024Article
- Allelic reprogramming of chromatin states in human early embryos.National science review · 2024Article
- DNA 5-methylcytosine detection and methylation phasing using PacBio circular consensus sequencing.Nature communications · 2023Article
- A clinical study of preimplantation DNA methylation screening in assisted reproductive technology.Cell research · 2023Article
- Comparative analysis reveals epigenomic evolution related to species traits and genomic imprinting in mammals.Innovation (Cambridge (Mass.)) · 2023Article
Corrections and comments
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Authors and funding
33 authors at 20 institutions in 8 countries.
Funding
Abstract
Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean. Using this approach we identified 77 DMRs, including nearly all those described in previous studies, in addition to 34 DMRs not previously reported. These include a DMR at TUBGCP5 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-origin effects associated with this genomic disorder. We also observed a modest parental bias in DNA methylation levels at every CpG analyzed across ∼1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating that the influence of imprinting is not limited to individual regulatory elements such as CpG islands, but can extend across entire chromosomal domains. Using RNA-seq data, we detected signatures consistent with imprinted expression associated with nine novel DMRs. Finally, using a population sample of 4,004 blood methylomes, we define patterns of epigenetic variation at DMRs, identifying rare individuals with global gain or loss of methylation across multiple imprinted loci. Our data provide a detailed map of parental epigenetic bias in the human genome, providing insights into potential parent-of-origin effects.
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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 OpenQuestion graph.