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Tissue-specific patterns of allelically-skewed DNA methylation

Marzi, SJ and Meaburn, EL and Dempster, EL and Lunnon, K and Paya-Cano, JL and Smith, RG and Volta, M and Troakes, C and Schalkwyk, LC and Mill, J (2016) 'Tissue-specific patterns of allelically-skewed DNA methylation.' Epigenetics, 11 (1). 24 - 35. ISSN 1559-2294

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Abstract

© 2016 The Author(s). Published with license by Taylor & Francis Group, LLC. While DNA methylation is usually thought to be symmetrical across both alleles, there are some notable exceptions. Genomic imprinting and X chromosome inactivation are two well-studied sources of allele-specific methylation (ASM), but recent research has indicated a more complex pattern in which genotypic variation can be associated with allelically-skewed DNA methylation in cis. Given the known heterogeneity of DNA methylation across tissues and cell types we explored inter- and intra-individual variation in ASM across several regions of the human brain and whole blood from multiple individuals. Consistent with previous studies, we find widespread ASM with > 4% of the ∼220,000 loci interrogated showing evidence of allelically-skewed DNA methylation. We identify ASM flanking known imprinted regions, and show that ASM sites are enriched in DNase I hypersensitivity sites and often located in an extended genomic context of intermediate DNA methylation. We also detect examples of genotype-driven ASM, some of which are tissue-specific. These findings contribute to our understanding of the nature of differential DNA methylation across tissues and have important implications for genetic studies of complex disease. As a resource to the community, ASM patterns across each of the tissues studied are available in a searchable online database: http://epigenetics.essex.ac.uk/ASMBrainBlood.

Item Type: Article
Subjects: Q Science > QH Natural history > QH426 Genetics
Divisions: Faculty of Science and Health > Biological Sciences, School of
Depositing User: Leonard Schalkwyk
Date Deposited: 15 Apr 2016 15:28
Last Modified: 17 Aug 2017 17:27
URI: http://repository.essex.ac.uk/id/eprint/16415

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