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A Patient specific iPSC-based model of Hydatidiform mole reveals abnormal BMP4 signaling caused by NLRP7 deficiency

ABSTRACT: A Patient specific iPSC-based model of Hydatidiform mole reveals abnormal BMP4 signaling caused by NLRP7 deficiency

PROVIDER: PRJNA516890 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR8482600_1.fastq.gz	Fastqsanger.gz
	SRR8482600_2.fastq.gz	Fastqsanger.gz
	SRR8482610_1.fastq.gz	Fastqsanger.gz
	SRR8482610_2.fastq.gz	Fastqsanger.gz
	SRR8482601_1.fastq.gz	Fastqsanger.gz

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Similar Datasets

A Patient specific iPSC-based model of Hydatidiform mole reveals abnormal BMP4 signaling caused by NLRP7 deficiency

Project description:Complete Hydatidiform Mole (HM) is a gestational trophoblastic disease resulting in hyper proliferation of trophoblast cells and absence of embryo development. Mutations in NLRP7 gene is a major cause of familial recurrent complete HM, where no embryonic tissue is present during the pregnancy. NLRP7 is a novel protein and its function is poorly understood. Lack of NLRP7 in the mouse genome and challenges in studying human embryogenesis as well as human trophoblast differentiation has prevented elucidation of the pathophysiology of this disease and the function of NLRP7 in HM. Here, we established an in vitro model of HM using NLRP7 deficient patient-derived human induced pluripotent stem cells (iPSCs). Whole transcriptome profiling during trophoblast differentiation revealed that NLRP7 deficiency results in precocious downregulation of pluripotency factors, activation of trophoblast genes and promotes maturation of differentiated extraembryonic cell types such as syncytiotrophoblasts. We further showed that these phenotypes are dependent on BMP4 signaling and BMP pathway inhibition prevented excessive trophoblast differentiation of HM-iPSCs. Taken together, this novel human iPSC model of a genetic placental disease recapitulates aspect of trophoblast biology and sheds light on early human embryogenesis by identifying NLRP7 as an important regulator of this process.

2021-09-09 | GSE125592 | GEO

Transcriptome analysis for XBP1 overexpressing complete hydatidiform mole-derived cell lines

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

The gene expression profiles of complete hydatidiform mole which developed post molar gestational trophoblast neoplasia

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

Impaired DNA methylation in oocytes with a mutation in KHDC3L causing recurrent hydatidiform mole

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

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.

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

Transcriptome analysis for XBP1 overexpressing complete hydatidiform mole-derived cell lines

Project description:Transcriptome analysis for XBP1 overexpressing complete hydatidiform mole-derived cell lines

| PRJNA1063209 | ENA

human Embryonic stem cells LC-MSMS

Project description:Genomic instability is the main cause of abnormal embryo development and abortion. NLRP7 dysfunctions affect embryonic development and lead to Hydatidiform Moles, but the underlying mechanisms remain largely elusive. Here, we show that NLRP7 knockout affects the genetic stability, resulting in increased DNA damage in both human embryonic stem cells and blastoids, making embryonic cells in blastoids more susceptible to apoptosis. Mechanistically, NLRP7 can interact with factors related to alternative splicing and DNA damage response, including DDX39B, PRPF8, THRAP3 and PARP1. Moreover, NLRP7 dysfunction leads to abnormal AS of genes involved in Homologous recombination in human embryonic stem cells, Such as Brca1 and Rad51. These results indicate that NLRP7-mediated Alternative splicing is potentially required for the maintenance of genome integrity during early human embryogenesis. Together, this study uncovers that NLRP7 plays an essential role in the maintenance of genetic stability during early human embryonic development by regulating alternative splicing of Homologous Recombination-related genes.

2025-01-17 | PXD059649 | Pride

NLRP7 maintains the genomic stability during early human embryogenesis via mediating alternative splicing

Project description:Genomic instability is the main cause of abnormal embryo development and abortion. NLRP7 dysfunctions affect embryonic development and lead to recurrent pregnancy loss (RPL) or hydatidiform moles (HM), but the underlying mechanisms remain largely elusive. In this study, we found that NLRP7 knockout affected the genetic stability, resulting in increased DNA damage in both human embryonic stem cells (hESCs) and blastoids, making embryonic cells in blastoids more susceptible to apoptosis. Mechanistically, NLRP7 could interact with factors related to alternative splicing (AS) and DNA damage response (DDR), including DDX39B, PRPF8, THRAP3 and PARP1, and its dysfunction led to abnormal AS of genes involved in Homologous recombination (HR) in hESCs, indicating that NLRP7-mediated AS is required for the maintenance of genome integrity during early human embryogenesis. Together, this study first uncovers that NLRP7 plays an essential role in the maintenance of genetic stability during early human embryonic development by regulating AS of HR-related genes.

2025-01-16 | GSE281755 | GEO

Impaired DNA methylation in oocytes with a mutation in KHDC3L causing recurrent hydatidiform mole

Project description:Impaired DNA methylation in oocytes with a mutation in KHDC3L causing recurrent hydatidiform mole

| PRJNA506728 | ENA

Genome-wide DNA methylation analysis of diploid hydatidiform moles with androgenetic or biparental genomic origin

Project description:Only very few studies have investigated methylation patterns of different types of hydatidiform moles (HMs). Methylation patterns of androgenetic HMs (AnHMs) are abnormal due to the fact that the nuclear genome in AnHMs is inherited from the father, only. Diploid biparental HMs (BiHM) have been suggested to display the same methylation patterns of imprinted genes as AnHMs, and the methylation patterns are suspected to be a consequence of a failure to establish maternal methylation at multiple genome-wide loci. We have investigated the methylation patterns of AnHMs, BiHM-like placentas with a chr. 11p15.5 deletion and a BiHM from a woman with NLRP7 mutations and compared these to methylation patterns of normal placentas. Using the Next Generation Sequencing (NGS) technique Reduced Representation Bisulfite Sequencing (RRBS) we instigated the genome-wide CpG methylation of 32 samples, including nine normal placentas, 20 androgenetic diploid HMs (AnHMs), and three diploid biparental HMs/HM-like placentas. This dataset contains RRBS data from 12 samples, including the nine normal placentas and the three diploid biparental HMs/HM-like placentas.The RRBS data from 20 androgenetic diploid HMs (AnHMs) was deposited in GSE65881:http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE65881

2015-06-01 | GSE67412 | GEO

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