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Biochim Biophys Acta. 2013 Nov;1829(11):1161-74. doi: 10.1016/j.bbagrm.2013.08.001. Epub 2013 Aug 9.

Intragenic DNA methylation in transcriptional regulation, normal differentiation and cancer.

Author information

1
Departamento de Anatomía Patológica, Farmacología y Microbiología, Universidad de Barcelona, Unidad de Hematopatología, Hospital Clinic, Institut d'Investigacions Biomédiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

Abstract

Ever since the discovery of DNA methylation at cytosine residues, the role of this so called fifth base has been extensively studied and debated. Until recently, the majority of DNA methylation studies focused on the analysis of CpG islands associated to promoter regions. However, with the upcoming possibilities to study DNA methylation in a genome-wide context, this epigenetic mark can now be studied in an unbiased manner. As a result, recent studies have shown that not only promoters but also intragenic and intergenic regions are widely modulated during physiological processes and disease. In particular, it is becoming increasingly clear that DNA methylation in the gene body is not just a passive witness of gene transcription but it seems to be actively involved in multiple gene regulation processes. In this review we discuss the potential role of intragenic DNA methylation in alternative promoter usage, regulation of short and long non-coding RNAs, alternative RNA processing, as well as enhancer activity. Furthermore, we summarize how the intragenic DNA methylome is modified both during normal cell differentiation and neoplastic transformation.

KEYWORDS:

Cancer; Cell differentiation; DNA methylation; Enhancer; Gene body; Transcription regulation

PMID:
23938249
DOI:
10.1016/j.bbagrm.2013.08.001
[Indexed for MEDLINE]

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