ArticleGenome research2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
Article in Genome research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 48 citations in OpenAlex.
- Allelic expression patterns of imprinted and non-imprinted genes in cancer cell lines from multiple histologies.Clinical epigenetics · 2025Article
- E-value: a superior alternative to P-value and its adjustments in DNA methylation studies.Briefings in bioinformatics · 2023Article
- Increased copy number of imprinted genes in the chromosomal region 20q11-q13.32 is associated with resistance to antitumor agents in cancer cell lines.Clinical epigenetics · 2022Article
- Genome-wide detection of imprinted differentially methylated regions using nanopore sequencing.eLife · 2022Article
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in theFrontiers in genetics · 2022Article
- Conservation of Imprinting and Methylation ofAnimals : an open access journal from MDPI · 2021Article
- Effect of expression alteration in flanking genes on phenotypes of St8sia2-deficient mice.Scientific reports · 2019Article
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.Nature genetics · 2019Article
- Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.Clinical epigenetics · 2019Article
- Lost in translation: The 3'-UTR ofEvolution, medicine, and public health · 2018Article
- DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.American journal of human genetics · 2016Article
- Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Epigenetics · 2014Article
- Review
- Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.Journal of medical genetics · 2014Article
- Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.Genome research · 2014Article
- Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Epigenetics · 2014Article
- Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Journal of neuropathology and experimental neurology · 2012Article
- A subset of methylated CpG sites differentiate psoriatic from normal skin.The Journal of investigative dermatology · 2012Article
- Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.Human genetics · 2012Article
- DNA methylation profiles of human active and inactive X chromosomes.Genome research · 2011Article
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Authors and funding
14 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The maternal and paternal genomes possess distinct epigenetic marks that distinguish them at imprinted loci. In order to identify imprinted loci, we used a novel method, taking advantage of the fact that uniparental disomy (UPD) provides a system that allows the two parental chromosomes to be studied independently. We profiled the paternal and maternal methylation on chromosome 15 using immunoprecipitation of methylated DNA and hybridization to tiling oligonucleotide arrays. Comparison of six individuals with maternal versus paternal UPD15 revealed 12 differentially methylated regions (DMRs). Putative DMRs were validated by bisulfite sequencing, confirming the presence of parent-of-origin-specific methylation marks. We detected DMRs associated with known imprinted genes within the Prader-Willi/Angelman syndrome region, such as SNRPN and MAGEL2, validating this as a method of detecting imprinted loci. Of the 12 DMRs identified, eight were novel, some of which are associated with genes not previously thought to be imprinted. These include a site within intron 2 of IGF1R at 15q26.3, a gene that plays a fundamental role in growth, and an intergenic site upstream of GABRG3 that lies within a previously defined candidate region conferring an increased maternal risk of psychosis. These data provide a map of parent-of-origin-specific epigenetic modifications on chromosome 15, identifying DNA elements that may play a functional role in the imprinting process. Application of this methodology to other chromosomes for which UPD has been reported will allow the systematic identification of imprinted sites throughout the genome.
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