DNA methylation profiling of human chromosomes 6, 20 and 22

DNA methylation profiling of human chromosomes 6, 20 and 22

2006 December | Florian Eckhardt, Joern Lewin, Rene Cortese, Vardhman K. Rakyan, John Attwood, Matthias Burger, John Burton, Tony V. Cox, Rob Davies, Thomas A. Down, Carolina Haefliger, Roger Horton, Kevin Howe, David K. Jackson, Jan Kunde, Christoph Koenig, Jennifer Liddle, David Niblett, Thomas Otto, Roger Pettett, Stefanie Seemann, Christian Thompson, Tony West, Jane Rogers, Alex Olek, Kurt Berlin, and Stephan Beck
This study reports high-resolution DNA methylation profiles of human chromosomes 6, 20, and 22, based on bisulfite sequencing of 43 samples from 12 different healthy tissues. The data includes approximately 1.9 million CpG methylation values, covering 2,524 amplicons across six categories: 5'-UTRs, ECRs, intronic, exonic, Sp1 sites, and others. Analysis revealed that evolutionary conserved regions are the main sites of differential methylation, with a core region around the transcription start site (TSS) being informative for promoter methylation. About 17% of 873 analyzed genes showed differential methylation in their 5'-UTRs, with some showing inverse correlation with transcription. The study controlled for age and sex but found no significant attributable effects. DNA methylation was found to be more stable ontogenetically than previously thought. The study also identified tissue-specific differentially methylated regions (T-DMRs), which are important regulatory elements. These T-DMRs were found in various genomic regions, including 5'-UTRs, exons, and introns, and were more prevalent in evolutionary conserved regions (ECRs) than in CpG islands (CGIs). The study further showed that DNA methylation is conserved between human and mouse orthologous amplicons, with about 70% of loci showing similar methylation profiles. The results highlight the importance of DNA methylation in epigenetic regulation and its potential role in disease. The data is available in the public HEP database and provides a valuable resource for understanding the epigenetic code. The study also discusses the implications of DNA methylation in health and disease, and the potential for using methylation data in diagnostics and drug development.This study reports high-resolution DNA methylation profiles of human chromosomes 6, 20, and 22, based on bisulfite sequencing of 43 samples from 12 different healthy tissues. The data includes approximately 1.9 million CpG methylation values, covering 2,524 amplicons across six categories: 5'-UTRs, ECRs, intronic, exonic, Sp1 sites, and others. Analysis revealed that evolutionary conserved regions are the main sites of differential methylation, with a core region around the transcription start site (TSS) being informative for promoter methylation. About 17% of 873 analyzed genes showed differential methylation in their 5'-UTRs, with some showing inverse correlation with transcription. The study controlled for age and sex but found no significant attributable effects. DNA methylation was found to be more stable ontogenetically than previously thought. The study also identified tissue-specific differentially methylated regions (T-DMRs), which are important regulatory elements. These T-DMRs were found in various genomic regions, including 5'-UTRs, exons, and introns, and were more prevalent in evolutionary conserved regions (ECRs) than in CpG islands (CGIs). The study further showed that DNA methylation is conserved between human and mouse orthologous amplicons, with about 70% of loci showing similar methylation profiles. The results highlight the importance of DNA methylation in epigenetic regulation and its potential role in disease. The data is available in the public HEP database and provides a valuable resource for understanding the epigenetic code. The study also discusses the implications of DNA methylation in health and disease, and the potential for using methylation data in diagnostics and drug development.
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