Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

47 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution

ABSTRACT: The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated with mutation of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylation of pericentromeric regions accompanied by chromosomal instability were determined as alterations driving the disease phenotype. However, so far only technologies capable of analyzing single loci were applied to determine epigenetic alterations in ICF patients. In the current study, we performed whole-genome bisulphite sequencing to assess alteration in DNA methylation at base-pair resolution. Whole-genome bisulphite sequencing was performed to assess alteration in DNA methylation of one ICF patient and one healthy control sample at base-pair resolution.

ORGANISM(S): Homo sapiens

SUBMITTER: Antonio GM-CM-3mez

PROVIDER: E-GEOD-37578 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

The DNA methylomes of a newborn and a centenarian

Project description:We have developed Whole Genome Bisulfite Sequencing (WGBS) of a newborn and a centenarian to address the epigenetic drifts in human aging, which might be an alternative pathway to explain the age-associated alterations. In addition, we have analyzed the methylome of a middle-age donor (26 years). Examination of two DNA methylomes at the most extreme points of their lives to see differences that might contribute to explain the aged phenotype. The methylome of a middle-age donor (26 years) was also analyzed.

2012-06-13 | E-GEOD-31263 | biostudies-arrayexpress

Bisulphite-sequencing of chromatin immunoprecipitated DNA (BisChiP-seq) directly informs methylation status

Project description:Bisulphite sequencing enables DNA methylation analysis of every cytosine residue. We have optimized conditions for combining chromatin immunoprecipation (ChIP) with high throughput bisulphite sequencing to study the relationship between histone modifications and DNA methylation. Paired-end bisulphite sequencing of H3K27me3-ChIP DNA for LNCaP and PrEC cell lines

2012-01-18 | E-GEOD-30558 | biostudies-arrayexpress

Bisulphite-sequencing of chromatin immunoprecipitated DNA directly informs methylation status of histone-modified DNA

Project description:This SuperSeries is composed of the following subset Series: GSE30558: Bisulphite-sequencing of chromatin immunoprecipitated DNA (BisChiP-seq) directly informs methylation status GSE34340: Bisulphite sequencing of native LNCaP and PrEC DNA [methylation array] Refer to individual Series

2012-01-18 | E-GEOD-34403 | biostudies-arrayexpress

RNA-seq quantification of expression changes upon unc-62 knockdown in adult Caenorhabditis elegans.

Project description:We performed RNA-seq to quantify gene expression changes in adult worms upon knockdown of transcription factor unc-62/Homothorax. unc-62 is a developmental regulator that binds proximal to age-regulated transcripts and modulates lifespan. In the intestine (in which tissue-specific unc-62 knockdown increases lifespan), we identify multiple effects of unc-62 knockdown linked to extension of longevity. First, unc-62 RNAi decreases the expression of yolk proteins (vitellogenins) that aggregate in the body cavity and become toxic in old age. Second, unc-62 RNAi results in a broad increase in expression of intestinal genes that typically decrease expression with age, suggesting that unc-62 activity balances intestinal resource allocation between yolk protein expression and fertility on the one hand and somatic functions on the other. mRNA profiling by Illumina HiSeq of 3 biological replicates of day 4 adult Caenorhabditis elegans that were fed either control or unc-62 RNAi beginning at day 1 of adulthood.

2012-09-01 | E-GEOD-39574 | biostudies-arrayexpress

Identification of a specific reprogramming-associated epigenetic signature in human induced pluripotent stem cells

Project description:In this work, we characterized the epigenomic integrity of 17 hiPSC lines derived from six different cell types with varied reprogramming efficiencies. We demonstrate that epigenetic aberrations are a general feature of the hiPSC state and are independent of the somatic cell source. Additionally, we determine that both shared and line-specific epigenetic aberrations in hiPSCs can directly translate into changes in gene expression in both the pluripotent and differentiated states. Examination of differential methylation between iPSC and ESCs through differentiated states. Examination of differential methylation between iPSC and somatic cell source and iPSC and ESCs.

2012-08-28 | E-GEOD-40372 | biostudies-arrayexpress

Extensive changes in DNA methylation are associated with expression of mutant huntingtin [RRBS]

Project description:The earliest stages of Huntington’s disease are marked by changes in gene expression that are caused in an indirect and poorly understood manner by polyglutamine expansions in the huntingtin protein (HTT). To explore the hypothesis DNA methylation may be altered in cells expressing mutated HTT, we use reduced-representation bisulfite sequencing (RRBS) to map sites of DNA methylation in cells carrying either wild-type or mutant HTT. We find that a large fraction of the genes that change in expression in the presence of mutant huntingtin demonstrate significant changes in DNA methylation. Regions with low CpG content, which have previously been shown to undergo methylation changes in response to neuronal activity, are disproportionately affected. Based on the sequence of regions that change in methylation, we identify AP-1 and SOX2 as transcriptional regulators associated with DNA methylation changes, and we confirm these hypotheses using genome-wide chromatin immunoprecipitation (ChIP-Seq). Our findings suggest new mechanisms for the effects of polyglutamine-expanded HTT. These results also raise important questions about the potential effects of changes in DNA methylation on neurogenesis and at later stages, cognitive decline in Huntington’s patients. RRBS in STHdhQ7/Q7 and STHdhQ111/Q111 cells

2013-01-24 | E-GEOD-43432 | biostudies-arrayexpress

Differential methylation in discrete developmental stages of the parasitic nematode Trichinella spiralis

Project description:We describe the first comprehensive study confirming the existence of DNA methylation, characterising the methylomes of three life stages of the food-borne agent of human trichinellosis, Trichinella spiralis. We further identify sets of genes where the DNA methylation status varied between thedevelopmental stages that are closely related to the parasitism of the organism. Examination of DNA methylation status in three life stages (Adult, muscle larve, new born larve) of Trchinella Spiralis using MethylC-seq.

2012-09-28 | E-GEOD-39328 | biostudies-arrayexpress

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

Project description:To elucidate the transcriptional and epigenetic alterations underlying the neurogenic defects of FA-NSCs, we conducted gene expression microarray analysis and global DNA methylation profiling. The gene expression pattern of gene-corrected NSCs (C-FA-NSCs) resembled that of control-NSCs but clustered distantly from FA-NSCs (Fig. 6F and Table S1). Hierarchical clustering based on DNA methylation levels in the promoter region (+/-1.5kb from TSS) of genes whose expression levels were rescued in C-FA-NSCs, placed C-FA-NSCs closer to control-NSCs and away from FA-NSCs (Fig. 6G), although this pattern was not seen at the whole genome level (Fig. S4C). This suggests that FANCA gene correction leads to specific methylation changes in a subset of promoters. Examination of the methylomes of NSCs derived from Fanconi Anemia iPSCs before and after gene correction by targeted bisulfite sequencing with padlock probes

2014-05-15 | E-GEOD-57685 | biostudies-arrayexpress

Transcriptional profile of C. elegans following RNAi of elt-2 [L4 stage]

Project description:We used RNA-seq to identify 292 genes that are differentially-regulated following elt-2 RNAi Whole-worm mRNA was sequenced from elt-2 RNAi- and control-fed worms. Biological triplicates were assay for each condition

2016-03-22 | E-GEOD-69262 | biostudies-arrayexpress

Transcriptional profile of C. elegans following RNAi of elt-2 [L1 stage]

Project description:We used RNA-seq to identify 162 genes that are differentially-regulated following elt-2 RNAi Whole-worm mRNA was sequenced from elt-2 RNAi- and control-fed worms. Biological triplicates were assay for each condition

2016-03-22 | E-GEOD-69261 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data