气候变化领域集成服务门户(CCPortal): Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci

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DOI	10.1126/science.aar3146
	Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci
	Onuchic V.; Lurie E.; Carrero I.; Pawliczek P.; Patel R.Y.; Rozowsky J.; Galeev T.; Huang Z.; Altshuler R.C.; Zhang Z.; Harris R.A.; Coarfa C.; Ashmore L.; Bertol J.W.; Fakhouri W.D.; Yu F.; Kellis M.; Gerstein M.; Milosavljevic A.
发表日期	2018
ISSN	0036-8075
卷号	361 期号:6409
英文摘要	To assess the impact of genetic variation in regulatory loci on human health, we constructed a high-resolution map of allelic imbalances in DNA methylation, histone marks, and gene transcription in 71 epigenomes from 36 distinct cell and tissue types from 13 donors. Deep whole-genome bisulfite sequencing of 49 methylomes revealed sequence-dependent CpG methylation imbalances at thousands of heterozygous regulatory loci. Such loci are enriched for stochastic switching, which is defined as random transitions between fully methylated and unmethylated states of DNA.The methylation imbalances at thousands of loci are explainable by different relative frequencies of the methylated and unmethylated states for the two alleles. Further analyses provided a unifying model that links sequence-dependent allelic imbalances of the epigenome, stochastic switching at gene regulatory loci, and disease-associated genetic variation. © 2018 American Association for the Advancement of Science. All rights reserved.
英文关键词	cell; DNA; genetic analysis; genetic variation; genome; heterozygosity; methylation; protein; Article; binding affinity; chromatin immunoprecipitation; controlled study; CpG island; DNA methylation; enhancer region; entropy; epigenetics; gene control; gene frequency; gene locus; genetic variability; heterozygosity; housekeeping gene; human; methylation; molecular evolution; mosaicism; priority journal; protein motif; quantitative trait locus; RNA sequence; sequence dependent allele specific methylation; single nucleotide polymorphism; whole genome sequencing; allele; allelic imbalance; binding site; chemistry; diseases; DNA methylation; DNA sequence; gene locus; gene regulatory network; genetic epigenesis; genetics; genome-wide association study; human genome; metabolism; single nucleotide polymorphism; hydrogen sulfite; sulfite; transcription factor; Alleles; Allelic Imbalance; Binding Sites; CpG Islands; Disease; DNA Methylation; Epigenesis, Genetic; Gene Regulatory Networks; Genetic Loci; Genome, Human; Genome-Wide Association Study; Humans; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Sulfites; Transcription Factors
语种	英语
来源期刊	Science
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/244949
作者单位	Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, United States; Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, United States; Epigenome Center, Baylor College of Medicine, Houston, TX, United States; NIH Roadmap Epigenomics Project, United States; Program in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, United States; Department of Computer Science, Yale University, New Haven, CT, United States; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, United States; Broad Institute of Harvard University, Massachusetts Institute of Technology, Cambridge, MA, United States; Center for Craniofacial Research, Department of Diagnostic and Biomedical Sciences, School of Dentistry, University of Texas Health Scie...
推荐引用方式 GB/T 7714	Onuchic V.,Lurie E.,Carrero I.,et al. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci[J],2018,361(6409).
APA	Onuchic V..,Lurie E..,Carrero I..,Pawliczek P..,Patel R.Y..,...&Milosavljevic A..(2018).Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci.Science,361(6409).
MLA	Onuchic V.,et al."Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci".Science 361.6409(2018).