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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Altered DNA Methylation in Leukocytes with Trisomy 21

ABSTRACT: The primary abnormality in Down syndrome (DS), trisomy 21, is well known, but how this chromosomal gain produces the complex DS phenotype, including immune system defects, is not well understood. We profiled DNA methylation in total peripheral blood leukocytes (PBL) and T-lymphocytes from adults with DS and normal controls and found gene-specific abnormalities of CpG methylation in DS, with many of the differentially methylated genes having known or predicted roles in lymphocyte development and function. NOTE 1: the analysis in Kerkel et al., PLOS Genet, 2010 was carried out after removing probes for genes on the X and Y chromosomes. NOTE 2: these GEO data have been analyzed with this latest version of BeadStudio; the data in the supplementary tables of Kerkel et al., PLOS Genetics, 2010, were from these same Bead chips, but extracted using an earlier version of this software. This re-extraction does not affect the conclusions in Kerkel et al., PLOS Genetics, 2010. Profiling of CpG methylation status in gene promoter regions using Illumina Infinium BeadChips.

ORGANISM(S): Homo sapiens

SUBMITTER: Ali Torkamani

PROVIDER: E-GEOD-25395 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Altered DNA Methylation in Leukocytes with Trisomy 21

Project description:The primary abnormality in Down syndrome (DS), trisomy 21, is well known, but how this chromosomal gain produces the complex DS phenotype, including immune system defects, is not well understood. We profiled DNA methylation in total peripheral blood leukocytes (PBL) and T-lymphocytes from adults with DS and normal controls and found gene-specific abnormalities of CpG methylation in DS, with many of the differentially methylated genes having known or predicted roles in lymphocyte development and function. NOTE 1: the analysis in Kerkel et al., PLOS Genet, 2010 was carried out after removing probes for genes on the X and Y chromosomes. NOTE 2: these GEO data have been analyzed with this latest version of BeadStudio; the data in the supplementary tables of Kerkel et al., PLOS Genetics, 2010, were from these same Bead chips, but extracted using an earlier version of this software. This re-extraction does not affect the conclusions in Kerkel et al., PLOS Genetics, 2010.

2010-11-18 | GSE25395 | GEO

Expression profiling in N2 (wild-type) early embryo

Project description:Determination of gene expression levels in wild-type early embryo. First published in Rechtsteiner et al. 2010 PLoS Genetics.

2014-06-24 | GSE58759 | GEO

Expression profiling in N2 (wild-type) early embryo

Project description:Determination of gene expression levels in wild-type early embryo. First published in Rechtsteiner et al. 2010 PLoS Genetics. 4 replicates of total RNA from wild-type early embryo

2014-06-24 | E-GEOD-58759 | biostudies-arrayexpress

ChIP-chip by array of yeast strains BY and RM after TSA treatment and recovery using anti-H3K14ac polyclonal antibody to investigate the stability of chromatin acetylation epi-polymorphisms

Project description:Strains BY and RM were cultivated with high concentrations of Trichostatin-A (TSA) and then let recover for >20 generations before re-profiling H3K14ac by ChIP as in Nagarajan et al. 2010 PLoS Genetics

2012-09-21 | E-MTAB-1025 | biostudies-arrayexpress

Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at CpG islands

Project description:Precise deposition of CpG methylation is critical for mammalian development and tissue homeostasis and is often dysregulated in human diseases. The localization of de novo DNA methyltransferases 3A (DNMT3A) and 3B (DNMT3B) is facilitated by PWWP domain recognition of histone H3 lysine 36 (H3K36) methylation (Baubec et al. 2015, Weinberg et al. 2019) and is normally excluded from CpG islands (CGIs) (Wu et al. 2010). However, CpG methylation of CGIs that are regulated by Polycomb repressive complexes (PRCs) has been observed during embryogenesis (Chen et al. 2019), cellular differentiation (Mohn et al. 2008), and cancer progression (Ohm et al. 2007, Schlesinger et al. 2007, Widschwendter et al. 2007), suggesting that an uncharacterized mechanism exists to compete for de novo DNMT recruitment. Here we report that DNMT3A PWWP domain mutations recently identified in paragangliomas (Remacha et al. 2018) and microcephalic dwarfism (Heyn et al. 2019) promote localization of DNMT3A to CGIs in a PRC1-dependent manner. Genome-wide analysis shows that DNMT3A PWWP mutants redistribute to regions containing ubiquitylation of histone H2A at lysine 119 (H2AK119Ub) deposited by PRC1, irrespective of the levels of PRC2-catalyzed tri-methylation of histone H3 at lysine 27 (H3K27me3). DNMT3A, but not DNMT3B, is capable of directly interacting with H2AK119Ub-modified nucleosomes through a putative amino-terminal ubiquitin-dependent recruitment (UDR) region, which serves as an alternative form of genomic targeting in cells upon loss of PWWP reader function. Ablation of PRC1 abrogates localization of DNMT3A PWWP mutants to CGIs and prevents aberrant hypermethylation at these sites. Our study implies that a balance between DNMT3A recruitment by distinct reader domains guides de novo CpG methylation and may underlie the abnormal DNA methylation landscapes observed in human cancers and developmental disorders.

2021-05-13 | GSE147879 | GEO

Epigenome-Wide Scans Identify Differentially Methylated Regions for Age and Age-Related Phenotypes in a Healthy Ageing Population

Project description:The Illumina Infinium 27k Human DNA methylation Beadchip v1.2 was used to obtain DNA methylation profiles across approximately 27,000 CpGs in whole blood samples from 172 normal female twins. See Bell, Tsai et al. Plos Genet. Vol e 2012 Bisulphite converted DNA from the 172 samples were hybridised to the Illumina Infinium 27k Human Methylation Beadchip v1.2

2014-05-29 | E-GEOD-58045 | biostudies-arrayexpress

Isocitrate dehydrogenase 1 (IDH1) mutant gliomas demonstrate a distinct global CpG island methylation profile compared to IDH1 wildtype gliomas using MRSE

Project description:In order to identify other molecular aberrations that may cooperate with IDH1R132MUT in gliomagenesis, we performed CpG-island methylation profiling analysis using MSRE (Tran et al. Front. Neurosci. 3:57. Doi: 10.3389/neuro.15.005.2009) on a subset of IDH1R132MUT and IDH1R132WT GBMs and found a distinct pattern of CpG island hypermethylation that was detected in all GBMs and lower grade gliomas with IDH1R132MUT. While absent from nearly all IDH1R132WT glioma, the methylation pattern in IDH1R132MUT GBMs shows similarity to the recently reported CpG island methylator phenotype (CIMP) found to be tightly associated with IDH1R132MUT gliomas(Noushmehr et al. Cancer Cell, Volume 17, Issue 5, 18 May 2010, Pages 510-522, ISSN 1535-6108, DOI: 10.1016/j.ccr.2010.03.017).

2011-10-25 | GSE28271 | GEO

Genome-wide DNA methylation analysis of seminoma-like TCam-2 cells during transition into an embryonal carcinoma-like state

Project description:Illumina 450k DNA methylation microarray analysis of seminoma-like TCam-2 cells xenografted in nude mice. 2120EP embryonal carcinoma cells served as control. TCam-2 cells acquire pluripotency and become epigenetically reprogrammed to an embryonal carcinoma-like state during in vivo growth. This analysis is part of the article 'BMP inhibition in seminomas initiates acquisition of pluripotency via NODAL signaling resulting in reprogramming to an embryonal carcinoma' by Nettersheim et al., 2015. PLoS Genetics

2015-08-01 | GSE60787 | GEO

Methylation Pattern of Human Mesenchymal Stromal Cells

Project description:In this study, we have analyzed DNA methylation changes upon long-term culture and aging of MSC by using the HumanMethylation27 BeadChip assessing 27,578 unique CpG sites. Cells were taken from bone marrow aspirates from iliac crest (BM) of healthy donors or from the caput femoris (HIP) of elderly patients that received femoral head prosthesis.Overall, the methylation pattern was maintained throughout both long-term culture and aging but highly significant differences were observed at specific CpG sites. Notably, methylation changes in MSC were related in long-term culture and aging in vivo. Mesenchymal stromal cells (MSC) were isolated from human bone marrow as described before (Wagner et al., 2006, Exp Hematol, 34, 536-548; Wagner et al.,2008, PLoS One 21;3(5):e2213.; Wagner et al., PLoS One. 2009 Jun 9;4(6):e5846.) Cells were always replated when grown to confluency. A sample for DNA isolation was taken at every passage until the cells finally became senescent. For methylation profiles upon long-term culture we used the samples of early passage (P2) and senescent passage (PX). For methylation profiles upon aging we have only used the samples of passage 2 of younger and elderly donors. Gene expression data of these samples have been previously deposited unter GSE9593 and GSE12274.

2010-05-14 | E-GEOD-17448 | biostudies-arrayexpress

Genome-wide analysis of unbalanced chromosomal changes in colorectal carcinoma

Project description:Colorectal carcinoma (CRC) is often characterized by chromosomal instability (CIN) which has been associated with a poor prognosis. Disease-related de novo methylation often causes gene repression that may complement chromosomal losses or mutations. To compare CpG island methylation and chromosomal abnormalities in colorectal cancer, we determineded unbalanced chromosomal changes by aCGH of CRCs that were also profiled for aberrant de novo DNA methylation at 23,000 CpG islands of the human genome (Gebhard et al. 2010; and unpublished data). This SuperSeries is composed of the SubSeries listed below.

2012-11-01 | GSE25229 | GEO

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