Human
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA647460 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Maternal-effect mutations in components of the subcortical maternal complex (SCMC) of the human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation abnormalities at imprinted genes in conceptuses, in the devastating gestational abnormality biparental complete hydatidiform mole (BiCHM) or in multi-locus imprinting disease (MLID). However, the developmental timing, genomic extent and mechanistic basis of these imprinting defects are unknown. Here, we studied methylation level of a women reported with familial recurrent hydatidiform mole and multiple pregnancy loss. Genotype analysis revealed homozygous mutation in KHDC3L. We obtained biparental mole from patient (Patient D) and compared it’s whole-genome methylation profile with respect to control placentas and sporadic mole (AnCHM) using Infinium MethylationEPIC BeadChip (WG-317-1001, Illumina). We also used endometrium samples from their respective mother for the comparison purposes. Molar conceptuses were observed with methylation defects at genome-wide level and profound loss of methylation at multiple genome-derived differentially methylated regions (gDMRs) confirming MLID.
2019-11-21 | GSE138864 | GEO
Project description:Mutations in components of the subcortical maternal complex (SMC) of the human oocyte are enigmatically associated with DNA methylation abnormalities specifically at imprinted genes in conceptuses, but the developmental timing, genomic extent and mechanistic details of these defects are unknown. Here, we show, by single-cell bisulphite sequencing, that mutation in human KHDC3L that causes recurrent hydatidiform mole results in a genome-wide deficit of de novo methylation in oocytes.
2019-11-21 | GSE122872 | GEO
Project description:Imprinted genes are critical for normal human growth and neurodevelopment. We developed a strategy to identify new DNA differentially methylated regions (DMRs), a hallmark of imprinted genes. Using genome-wide methylation profiling, candidate DMRs were selected by identifying CpGs with putative allelic differential methylation in normal biparental tissues. In parallel, we looked for parent of origin-specific DNA methylation patterns in paternally derived human androgenetic complete hydatidiform mole (AnCHM), and maternally derived mature cystic ovarian teratoma (MCT). Using this approach, we found known DMRs associated with imprinted genomic regions as well as new DMRs for known imprinted genes, NAP1L5 and ZNF597. Most importantly, novel candidate imprinted genes were identified. The paternally methylated DMR for one candidate, AXL, a receptor tyrosine kinase, was validated by methylation analyses in humans. Further validation in mouse embryos showed that Axl was expressed preferentially from the maternal allele in a DNA methylation–dependent manner. We have analyzed 3 androgenetic complete hydatidiform mole (AnCHM), 16 white blood cell (WBC), 1 mature cystic ovarian teratoma (MCT), 5 placenta, and 1 lymphoblastoid cell line paternal UPD4 sample
2011-01-26 | E-GEOD-22091 | biostudies-arrayexpress
Project description:A complete hydatidiform mole (CHM) is a common disease known to develop post-molar gestational trophoblast neoplasia (GTN). However, the details of the molecular biological mechanisms underlying the progression to post-molar GTN from hydatidiform moles are still largely unknown. In this study, we performed RNA sequencing (RNA-seq) using archival fresh frozen tissues of patients with CHM and compared the gene expression profiles of patients who achieved spontaneous remission and those who developed post-molar GTN after the evacuation.
2024-12-21 | GSE252906 | GEO
Project description:MicroRNAs play fundamental roles in the development of various cancers. In this study, we investigated the miRNA profiles of choriocarcinoma (CC) and complete hydatidiform mole (CHM) samples.
2025-09-21 | GSE293510 | GEO
Project description:PAMD-Ch17 is a polymer composed of the CXCR4 inhibitor AMD3100/Plerixafor with a cholesterol modification. In previous work, we showed that PAMD-Ch17, but not AMD3100, induces cell death and differentiation in mouse Acute Myeloid Leukemia cells. To investigate the mechanism of PAMD-Ch17’s novel anti-leukemic effects, we tested PAMD-Ch17 against a panel of human leukemia cell lines and found that PAMD-Ch17 is effective against a variety of acute leukemias, with T-ALL cell lines being highly sensitive. Surprisingly, CXCR4 knock out T-ALL cells were equally sensitive to PAMD-Ch17. Using a fluorescently tagged PAMD-Ch17, we found that the drug colocalized to the mitochondria. We also found that PAMD-Ch17 induced changes in expression of genes related to mitochondrial function, increased levels of mitochondrial superoxide, and decreased mitochondrial membrane potential. Using seahorse assays, we found that PAMD-Ch17 decreased baseline oxygen consumption, ATP production, and proton leakage. PAMD-Ch17 also decreased baseline extracellular acidification rate, indicating a decrease in overall metabolism. In mouse primary T-ALL but not healthy bone marrow cells, PAMD-Ch17 induced both mitochondrial superoxide and cell death. Using human bone marrow organoids, we found that PAMD-Ch17 induced mitochondrial superoxide and cell death in human primary T-ALL cells, but not in healthy stromal and hematopoietic cells. Collectively, our results indicate that PAMD-Ch17 has anti-leukemic effects against T-ALL cells but not healthy cells, likely mediated through a CXCR4 independent, mitochondrial based mechanism. These findings support further development of PAMDs as potential therapeutics for patients with T-ALL.
2026-02-16 | GSE290704 | GEO
Project description:The trophoblastic disease is a general term for diseases that cause abnormal growth of trophoblasts, the most frequent form of which is called hydatidiform mole (CHM). CHM cell lines (Hmol1-3B and Hmol1-2C) were established in our laboratory (Yamamoto E, et al. Int J Mol Med. 2017 Sep; 40(3): 614–622). In this study, XBP1 was overexpressed, and RNA sequencing was performed to investigate the role of XBP1 in CHM.
2024-12-21 | GSE252905 | GEO
Project description:Patients with molar pregnancy are at risk of developing persistent trophoblastic disease (PTD). Previous study indicated that PTD risk was not related to evacuation time of hydatidiform mole (HM), leading to our hypothesis that HM might be pre-programmed before evacuation to determine the PTD risk. Considering the similarity between PTD and tumorigenesis, we investigated the methylation alterations in PTD conceptus using reduced representation bisulfite sequencing (RRBS), in order to identify potential predictors for PTD.
2015-06-01 | GSE65881 | GEO
Project description:We reported a kind of new haploid embryonic stem cell, human haploid androgenetic embryonic stem cell, which kept the sperm characteristic epigenetic modification patterns for imprinting genes. In this study, two human haploid androgenetic embryonic stem cell lines (ha-AGHESC) and two human haploid parthenogenetic embryonic stem cell lines (ha-PGHESC) with somatic control and diploid HESC control, were processed with RNA-sequencing (RNA-seq) and whole genome bisulfite sequencing (WGBS). We showed that the reconstructed semi-clone HESCs were similar to the diploid HESC in transcriptome and the methylome especially related to the known human imprinting genes. The raw data of WGBS and bulk RNA-seq are deposited at Genome Sequence Archive (GSA) of Human with accession number HRA004100.
2021-12-30 | GSE128377 | GEO