| http://purl.uniprot.org/citations/27153397 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27153397 | http://www.w3.org/2000/01/rdf-schema#comment | "Haplotype-dependent allele-specific methylation (hap-ASM) can impact disease susceptibility, but maps of this phenomenon using stringent criteria in disease-relevant tissues remain sparse. Here we apply array-based and Methyl-Seq approaches to multiple human tissues and cell types, including brain, purified neurons and glia, T lymphocytes, and placenta, and identify 795 hap-ASM differentially methylated regions (DMRs) and 3,082 strong methylation quantitative trait loci (mQTLs), most not previously reported. More than half of these DMRs have cell type-restricted ASM, and among them are 188 hap-ASM DMRs and 933 mQTLs located near GWAS signals for immune and neurological disorders. Targeted bis-seq confirmed hap-ASM in 12/13 loci tested, including CCDC155, CD69, FRMD1, IRF1, KBTBD11, and S100A(∗)-ILF2, associated with immune phenotypes, MYT1L, PTPRN2, CMTM8 and CELF2, associated with neurological disorders, NGFR and HLA-DRB6, associated with both immunological and brain disorders, and ZFP57, a trans-acting regulator of genomic imprinting. Polymorphic CTCF and transcription factor (TF) binding sites were over-represented among hap-ASM DMRs and mQTLs, and analysis of the human data, supplemented by cross-species comparisons to macaques, indicated that CTCF and TF binding likelihood predicts the strength and direction of the allelic methylation asymmetry. These results show that hap-ASM is highly tissue specific; an important trans-acting regulator of genomic imprinting is regulated by this phenomenon; and variation in CTCF and TF binding sites is an underlying mechanism, and maps of hap-ASM and mQTLs reveal regulatory sequences underlying supra- and sub-threshold GWAS peaks in immunological and neurological disorders."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.03.027"xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Lin J."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Monk C."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Gallagher M.P."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Christiano A.M."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Gaba A."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Petukhova L."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Tycko B."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Vonsattel J.P."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Dwork A."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Do C."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Clynes R.A."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Kral J.G."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Darbary H."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Krupska I."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Goland R.S."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/author | "Lang C.F."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/name | "Am J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/pages | "934-955"xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/title | "Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation."xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://purl.uniprot.org/core/volume | "98"xsd:string |
| http://purl.uniprot.org/citations/27153397 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27153397 |