Article
The correlation between CpG methylation and gene expression is driven by sequence variants.
Nature genetics - 1 Aug 2024
Stefansson Olafur Andri, Sigurpalsdottir Brynja Dogg, Rognvaldsson Solvi, Halldorsson Gisli Hreinn, Juliusson Kristinn, Sveinbjornsson Gardar, Gunnarsson Bjarni, Beyter Doruk, Jonsson Hakon, Gudjonsson Sigurjon Axel, Olafsdottir Thorunn Asta, Saevarsdottir Saedis, Magnusson Magnus Karl, Lund Sigrun Helga, Tragante Vinicius, Oddsson Asmundur, Hardarson Marteinn Thor, Eggertsson Hannes Petur, Gudmundsson Reynir L, Sverrisson Sverrir, Frigge Michael L, Zink Florian, Holm Hilma, Stefansson Hreinn, Rafnar Thorunn, Jonsdottir Ingileif, Sulem Patrick, Helgason Agnar, Gudbjartsson Daniel F, Halldorsson Bjarni V, Thorsteinsdottir Unnur, Stefansson Kari
Abstract excerpt
Gene promoter and enhancer sequences are bound by transcription factors and are depleted of methylated CpG sites (cytosines preceding guanines in DNA). The absence of methylated CpGs in these sequences typically correlates with increased gene expression, indicating a regulatory role for methylation. We used nanopore sequencing to determine haplotype-specific methylation rates of 15.3 million CpG units in 7,179...
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