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Chunk #19 — RESULTS — Hypermethylation and hypomethylation at imprinted loci in hPSCs correlate with loss of allele-specific gene expression

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Recurrent variations in DNA methylation in human pluripotent stem cells and their differentiated derivatives.
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also determined that CpG methylation and mRNA expression were anti-correlated for MEG3, PEG3/ZIM2, NAP1L5, NNAT, GNAS, NDN, H19 and SNRPN (Table S5A). For many imprinted genes, our DNA methylation data show similar frequencies of either stable or aberrant CpG methylation compared to previous studies reporting on patterns of allelic expression (Table S6, (Adewumi et al., 2007; Allegrucci et al., 2007; Frost et al., 2011; Kim et al., 2007; Rugg-Gunn et al., 2007)). However, for PEG3, MEG3 and H19, we identified frequent aberrant hypermethylation with corresponding silencing of gene expression in hPSCs, which is in contrast to these previous studies, which reported stable monoallelic expression for these genes in hPSCs (Table S6, (Adewumi et al., 2007; Allegrucci et al., 2007; Frost et al., 2011; Kim et al., 2007; Rugg-Gunn et al., 2007)).