Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform
| Autor: | Carlos Simón, Maria Eugenia Poo-Llanillo, Kazuhiko Nakabayashi, Manel Esteller, Jair Tenorio, David Monk, Ana Monteagudo-Sánchez, Tsutomu Ogata, Marta Sanchez-Delgado, Masayo Kagami, Sebastian Moran, Pablo Lapunzina, Kenichiro Hata, Jose Ramon Hernandez Mora, Chiharu Tayama, Jose V. Medrano |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Cancer Research Genome Human Computational biology Methylation DNA Methylation Biology EPIC Healthy Volunteers Genomic Imprinting 03 medical and health sciences 030104 developmental biology Differentially methylated regions CpG site DNA methylation Genetics Fetal growth Humans Differential Methylation CpG Islands Imprinting (psychology) DNA Probes Genome-Wide Association Study Oligonucleotide Array Sequence Analysis |
| Zdroj: | Epigenomics. 10:941-954 |
| ISSN: | 1750-192X 1750-1911 |
| Popis: | Aim: This study aimed to establish a catalog of probes corresponding to imprinted differentially methylated regions (DMRs) on the Infinium HumanMethylationEPIC BeadChip. Materials & methods: Reciprocal uniparental diploidies with low normal biparental mosaic contribution, together with normal diploid controls, were subjected to EPIC BeadChip hybridization. The methylation profiles were assessed for imprinted differential methylation. Top candidates were validated using locus-specific PCR-based assays. Results: Seven hundred and eighty-nine CpG probes coincided with 50 known imprinted DMRs and 467 CpG probes corresponding to 124 novel imprinted DMR candidates were identified. Validation led to identification of several subtle DMRs within known imprinted domains as well as novel maternally methylated regions associated with PTCHD3 and JAKMIP1. Conclusion: Our comprehensive list of bona fide-imprinted DMR probes will simplify and facilitate methylation profiling of individuals with imprinting disorders and is applicable to other diseases in which aberrant imprinting has been implicated, such as cancer and fetal growth. |
| Databáze: | OpenAIRE |
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