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| Status |
Public on Jun 01, 2016 |
| Title |
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. |
| Organism |
Homo sapiens |
| Experiment type |
Methylation profiling by genome tiling array
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| Summary |
Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean. Using this approach we identified 77 DMRs, including nearly all those described in previous studies, in addition to 34 DMRs not previously reported. These include a DMR at TUBGCP5 within the recurrent 15q11.2 microdeletion region, suggesting potential parent-of-origin effects associated with this genomic disorder. We also observed a modest parental bias in DNA methylation levels at every CpG analyzed across ∼1.9 Mb of the 15q11-q13 Prader-Willi/Angelman syndrome region, demonstrating that the influence of imprinting is not limited to individual regulatory elements such as CpG islands, but can extend across entire chromosomal domains. Using RNA-seq data, we detected signatures consistent with imprinted expression associated with nine novel DMRs. Finally, using a population sample of 4,004 blood methylomes, we define patterns of epigenetic variation at DMRs, identifying rare individuals with global gain or loss of methylation across multiple imprinted loci. Our data provide a detailed map of parental epigenetic bias in the human genome, providing insights into potential parent-of-origin effects.
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| Overall design |
66 UPD samples analyzed in total, From each individual, whole bllod DNA was extracted and global DNA methylation levels were assessed using Illumina Infinium HumanMethylation450 BeadChip.
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| Contributor(s) |
Joshi RS, Garg P, Watson CT, Sharp AJ |
| Citation(s) |
27569549 |
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| Submission date |
Dec 16, 2014 |
| Last update date |
Mar 22, 2019 |
| Contact name |
Ricky Shantilal Joshi |
| E-mail(s) |
ricky.joshi@mssm.edu
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| Organization name |
Mount Sinai School of Medicine
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| Department |
Genetics and Genomic Sciences
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| Street address |
1470 Madison Avenue
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| City |
New York City |
| State/province |
NY |
| ZIP/Postal code |
10128 |
| Country |
USA |
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| Platforms (1) |
| GPL13534 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482) |
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| Samples (66)
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| Relations |
| BioProject |
PRJNA270525 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE64244_RAW.tar |
183.1 Mb |
(http)(custom) |
TAR |
| GSE64244_RAW_nonorm_nobg.txt.gz |
551.7 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
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