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dc.contributor.authorMarzi, SJ
dc.contributor.authorMeaburn, EL
dc.contributor.authorDempster, EL
dc.contributor.authorLunnon, K
dc.contributor.authorPaya-Cano, JL
dc.contributor.authorSmith, RG
dc.contributor.authorVolta, M
dc.contributor.authorTroakes, C
dc.contributor.authorSchalkwyk, LC
dc.contributor.authorMill, J
dc.date.accessioned2016-03-23T10:06:10Z
dc.date.issued2016-01-19
dc.description.abstractWhile 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 .en_GB
dc.description.sponsorshipThis work was supported by grants from the UK Medical Research Council (MRC) (grant number MR/K013807/1) and US National Institutes of Health (grant number AG036039) to JM. SJM is funded through the Marie Curie Initial Training Network “EpiTrain” (EC FP7).en_GB
dc.identifier.citationVolume 11, pp. 24 - 35en_GB
dc.identifier.doi10.1080/15592294.2015.1127479
dc.identifier.urihttp://hdl.handle.net/10871/20815
dc.language.isoenen_GB
dc.publisherTaylor & Francisen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/26786711en_GB
dc.subjectAllele-specific DNA methylationen_GB
dc.subjectSNPen_GB
dc.subjectblooden_GB
dc.subjectbrainen_GB
dc.subjectcerebellumen_GB
dc.subjectcortexen_GB
dc.subjectepigeneticsen_GB
dc.subjectgenomic imprintingen_GB
dc.titleTissue-specific patterns of allelically-skewed DNA methylationen_GB
dc.typeArticleen_GB
dc.identifier.issn1559-2294
dc.descriptionThis is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.en_GB
dc.descriptionThis is an open access article.
dc.identifier.journalEpigeneticsen_GB
dc.identifier.pmid26786711


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