Single-Cell Chromatin Accessibility Landscape of Human Umbilical Cord Blood in Trisomy 18 Syndrome
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PROVIDER: PRJNA664208 | ENA |
REPOSITORIES: ENA
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Project description:Trisomy 18 syndrome (Edwards Syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18, and just the second most common autosomal trisomy syndrome after trisomy 21 (known as Down syndrome). Aneuploidy is the leading cause of early pregnancy loss, mental retardation, and multiple congenital anomalies. We used the commercial system Chromium platform (10x Genomics) to performed scATAC-seq to measure chromatin accessibility in 11,611 single umbilical cord blood cells, derived from 2 samples, respectively one Trisomy 18 Syndrome and one healthy donor. We obtain 13 distinct major clusters of cells, identified as 6 human umbilical cord blood mononuclear cell types marker-free and characterized the driving regulatory factors and differentially accessible loci that define each cluster. We set out to generate a single-cell atlas of chromatin accessibility among health and the 18 trisomy syndrome human umbilical cord blood. Finally, the cell-type-specific gene regulatory networks analysis at a single-cell resolution of this differential accessibility-related loci genes was carried out and disease-related transcription factors (TFs) and corresponding genes are predicted. These screened disease-related transcription factors (TFs) and corresponding genes provide a basis for further research and understanding of trisomy 18 syndrome. Finally, a cell-type-specific gene regulatory network analysis of these differentially accessible related locus genes was performed at single-cell resolution and predicted disease-related transcription factors (TFs) and corresponding genes. In detail, CCBN2 and MCM3 may be essential for the development of trisomy 18 and disease differential genes are enriched in the human T-cell leukemia virus 1 infection pathway.
2021-07-07 | GSE158178 | GEO
Project description:BackgroundTrisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multiple congenital anomalies. The research of trisomy 18 is progressing slowly, and the molecular characteristics of the disease mechanism and phenotype are still largely unclear.ResultsIn this study, we used the commercial Chromium platform (10× Genomics) to perform sc-ATAC-seq to measure chromatin accessibility in 11,611 single umbilical cord blood cells derived from one trisomy 18 syndrome patient and one healthy donor. We obtained 13 distinct major clusters of cells and identified them as 6 human umbilical cord blood mononuclear cell types using analysis tool. Compared with the NC group, the ES group had a lower ratio of T cells to NK cells, the ratio of monocytes/DC cell population did not change significantly, and the ratio of B cell nuclear progenitor and megakaryocyte erythroid cells was higher. The differential genes of ME-0 are enriched in Human T cell leukemia virus 1 infection pathway, and the differential peak genes of ME-1 are enriched in apopotosis pathway. We found that CCNB2 and MCM3 may be vital to the development of trisomy 18. CCNB2 and MCM3, which have been reported to be essential components of the cell cycle and chromatin.ConclusionsWe have identified 6 cell populations in cord blood. Disorder in megakaryocyte erythroid cells implicates trisomy 18 in perturbing fetal hematopoiesis. We identified a pathway in which the master differential regulatory pathway in the ME-0 cell population involves human T cell leukemia virus 1 infection, a pathway that is dysregulated in patients with trisomy 18 and which may increase the risk of leukemia in patients with trisomy 18. CCNB2 and MCM3 in progenitor may be vital to the development of trisomy 18. CCNB2 and MCM3, which have been reported to be essential components of the cell cycle and chromatin, may be related to chromosomal abnormalities in trisomy 18.
| S-EPMC8246660 | biostudies-literature
Project description:There were no studies about gene expression of umbilical cord tissue before. We performed this study to identify the gene expression of umbilical cord tissue.
2016-11-22 | GSE75642 | GEO
Project description:Shotgun proteomic analysis was performed on lysates from umbilical cord and adjult mesenchymal stem cells
2022-12-19 | PXD032994 | Pride
Project description:Analysis of umbilical cord tissue in newborns of type 1 diabetic mothers at gene expression level. The hypothesis tested in the present study was that intrauterine diabetic milieu may effect of fetal umbilical cord gene expression, and via umbilical cord, the alterations may be produced in other fetal tissues as well. Results provide an information of the differentially expressed genes and enriched pathways, such as the dowregulated genes on the pathway on blood vessel development in umbilical cords from diabetic pregnancies.
2016-01-01 | GSE51546 | GEO
Project description:Umbilical cord blood banking is critical for the success of umbilical cord blood transplants. Here we analyzed transcriptomic differences between 27-year cryopreserved umbilical cord blood hematopoietic stem cells (HSCs) and multipotent progenitor cells (MPPs) and those derived from fresh cord blood. We also leveraged differences in engraftment capacity to examine the transcriptomes of HSCs/HPCs defined by engraftment capacity, demonstrating the feasibility of this approach for identifying potency markers to aid in the selection of cord blood units for transplantation and revealing novel potential regulators of cord blood HSC/HPC engraftment.
2023-10-04 | GSE225699 | GEO
Project description:Analysis of umbilical cord tissue in newborns of type 1 diabetic mothers at gene expression level. The hypothesis tested in the present study was that intrauterine diabetic milieu may effect of fetal umbilical cord gene expression, and via umbilical cord, the alterations may be produced in other fetal tissues as well. Results provide an information of the differentially expressed genes and enriched pathways, such as the dowregulated genes on the pathway on blood vessel development in umbilical cords from diabetic pregnancies. Umbilical cord tissue was collected after elective ceasarean section and was immediately flash frozen in liquid nitrogen and stored at -80C until total RNA extraction from the whole tissue sample. Six cords exposed to maternal diabetes (DM) and six control cords (C) from healthy pregnancies were analyzed.
2016-07-03 | E-GEOD-51546 | biostudies-arrayexpress
Project description:We performed a proteomic profiling of human mesenchymal stem cells (hMSCs) derived from adipose tissue or umbilical cord.
2018-07-11 | PXD009893 | Pride
Project description:we analyzed the transcriptomics of single cell of amniotic fluid both from normal and trisomy 18 individuals by using 10x Genomics.
2022-04-13 | GSE141074 | GEO
Project description:DNase-seq on 76 day old male human fetal umbilical cord tissue For data usage terms and conditions, please refer to http://www.genome.gov/27528022 and http://www.genome.gov/Pages/Research/ENCODE/ENCODE_Data_Use_Policy_for_External_Users_03-07-14.pdf
2016-12-07 | GSE90349 | GEO