Show simple item record

dc.contributor.authorZink, Florian
dc.contributor.authorMagnusdottir, Droplaug N
dc.contributor.authorMagnusson, Olafur T
dc.contributor.authorWalker, Nicolas J
dc.contributor.authorMorris, Tiffany J
dc.contributor.authorSigurdsson, Asgeir
dc.contributor.authorHalldorsson, Gisli H
dc.contributor.authorGudjonsson, Sigurjon A
dc.contributor.authorMelsted, Pall
dc.contributor.authorIngimundardottir, Helga
dc.contributor.authorKristmundsdottir, Snædis
dc.contributor.authorAlexandersson, Kristjan F
dc.contributor.authorHelgadottir, Anna
dc.contributor.authorGudmundsson, Julius
dc.contributor.authorRafnar, Thorunn
dc.contributor.authorJonsdottir, Ingileif
dc.contributor.authorHolm, Hilma
dc.contributor.authorEyjolfsson, Gudmundur Ingi
dc.contributor.authorSigurdardottir, Olof
dc.contributor.authorOlafsson, Isleifur
dc.contributor.authorMasson, Gisli
dc.contributor.authorGudbjartsson, Daniel F
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorHalldorsson, Bjarni V
dc.contributor.authorStacey, Simon N
dc.contributor.authorStefansson, Kari
dc.date.accessioned2018-12-19T13:04:27Z
dc.date.available2018-12-19T13:04:27Z
dc.date.issued2018-11-01
dc.date.submitted2018-12
dc.identifier.citationInsights into imprinting from parent-of-origin phased methylomes and transcriptomes. 2018, 50(11):1542-1552 Nature geneticsen_US
dc.identifier.issn1546-1718
dc.identifier.pmid30349119
dc.identifier.doi10.1038/s41588-018-0232-7
dc.identifier.urihttp://hdl.handle.net/2336/620762
dc.descriptionTo access publisher's full text version of this article click on the hyperlink belowen_US
dc.description.abstractImprinting is the preferential expression of one parental allele over the other. It is controlled primarily through differential methylation of cytosine at CpG dinucleotides. Here we combine 285 methylomes and 11,617 transcriptomes from peripheral blood samples with parent-of-origin phased haplotypes, to produce a new map of imprinted methylation and gene expression patterns across the human genome. We demonstrate how imprinted methylation is a continuous rather than a binary characteristic. We describe at high resolution the parent-of-origin methylation pattern at the 15q11.2 Prader-Willi/Angelman syndrome locus, with nearly confluent stochastic paternal methylation punctuated by 'spikes' of maternal methylation. We find examples of polymorphic imprinted methylation unrelated (at VTRNA2-1 and PARD6G) or related (at CHRNE) to nearby SNP genotypes. We observe RNA isoform-specific imprinted expression patterns suggestive of a methylation-sensitive transcriptional elongation block. Finally, we gain new insights into parent-of-origin-specific effects on phenotypes at the DLK1/MEG3 and GNAS loci.en_US
dc.description.sponsorshipdeCODE genetics/AMGEN Inc.en_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.urlhttps://www.nature.com/articles/s41588-018-0232-7en_US
dc.subjectGenen_US
dc.subject.meshGenomic Imprintingen_US
dc.titleInsights into imprinting from parent-of-origin phased methylomes and transcriptomes.en_US
dc.typeArticleen_US
dc.contributor.department1 deCODE genetics/AMGEN, Reykjavik, Iceland. 2 Cambridge Epigenetix, Cambridge, UK. 3 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 4 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 5 Landspitali University Hospital, Reykjavik, Iceland. 6 Icelandic Medical Center (Laeknasetrid) Laboratory in Mjodd (RAM), Reykjavik, Iceland. 7 Department of Clinical Biochemistry, Akureyri Hospital, Akureyri, Iceland. 8 Department of Clinical Biochemistry, The National University Hospital of Iceland, Reykjavik, Iceland. 9 School of Science and Engineering, Reykjavik University, Reykjavik, Iceland. 10 deCODE genetics/AMGEN, Reykjavik, Iceland. simon.stacey@decode.is. 11 deCODE genetics/AMGEN, Reykjavik, Iceland. kari.stefansson@decode.is. 12 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kari.stefansson@decode.is.en_US
dc.identifier.journalNature geneticsen_US
dc.rights.accessLandspitali Access - LSH-aðganguren_US
dc.departmentcodeNAF12
dc.source.journaltitleNature genetics


This item appears in the following Collection(s)

Show simple item record