ArticleJournal of advanced research2026
Pluripotent stem cell-specific imprinted genes identified using human uniparental-induced pluripotent stem cells.
Article in Journal of advanced research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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14 authors.
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Abstract
introductionGenomic imprinting is an epigenetic mechanism in which gene expression is determined by the parent of origin. Imprinted genes are crucial for mammalian growth and development, and mutations at imprinting sites can lead to developmental disorders and diseases. Therefore, identifying novel imprinted differentially methylated regions (DMRs) is essential for understanding imprinting mechanisms and their implications in human biology.
objectivesThis study aimed to identify new imprinted DMRs using parthenogenetic and androgenetic human induced pluripotent stem cells (PgHiPSCs and AgHiPSCs), derived from mature cystic teratomas and complete hydatidiform moles, respectively.
methodsGenome-wide DNA methylation profiling via DNA methyl-capture sequencing (MethylCap-seq) was used to identify candidate imprinted DMRs. Subsequent bisulfite sequencing validated the methylation status, and comparative analyses confirmed pluripotency-specific imprinting.
resultsWe identified 26 novel imprinted DMRs and excluded 6 that exhibited the absence of allelic imbalance or the presence of potential confounding by expression quantitative trait locus. Among the remaining 20, the DMRs in DOCK4 and LYNX1 were validated. They had distinct imprinted methylation and expression patterns unique to pluripotent stem cells and absent in fibroblasts and normal adult tissues.
conclusionThese findings highlight the utility of uniparental iPSCs for discovering imprinted genes specific to the pluripotent state and provide insights into the epigenetic regulation of early human development.
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