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Methylation of a CGATA element inhibits binding and regulation by GATA-1

Lu Yang, Zhiliang Chen, Elizabeth S. Stout, Fabien Delerue, Lars M. Ittner, Marc R. Wilkins, Kate Quinlan, Merlin Crossley

2020Nature Communications31 citationsDOIOpen Access PDF

Abstract

Alterations in DNA methylation occur during development, but the mechanisms by which they influence gene expression remain uncertain. There are few examples where modification of a single CpG dinucleotide directly affects transcription factor binding and regulation of a target gene in vivo. Here, we show that the erythroid transcription factor GATA-1 - that typically binds T/AGATA sites - can also recognise CGATA elements, but only if the CpG dinucleotide is unmethylated. We focus on a single CGATA site in the c-Kit gene which progressively becomes unmethylated during haematopoiesis. We observe that methylation attenuates GATA-1 binding and gene regulation in cell lines. In mice, converting the CGATA element to a TGATA site that cannot be methylated leads to accumulation of megakaryocyte-erythroid progenitors. Thus, the CpG dinucleotide is essential for normal erythropoiesis and this study illustrates how a single methylated CpG can directly affect transcription factor binding and cellular regulation.

Topics & Concepts

CpG siteDNA methylationMethylationTranscription factorGATA2BiologyMolecular biologyErythropoiesisTranscription (linguistics)Epigenetics of physical exerciseRegulation of gene expressionGene expressionCell biologyGeneGeneticsMedicineLinguisticsAnemiaInternal medicinePhilosophyEpigenetics and DNA MethylationRNA modifications and cancerGenomics and Chromatin Dynamics