Similar Datasets
Project description:To investigate the contribution of parental genomes to early embryogenesis, we systematically profiled the single-cell transcriptomes of human biparental and uniparental embryos from one-cell to morula stages. We observed that uniparental embryos exhibit variable and overall less activation patterns of embryonic genome activation (EGA). Comparative transcriptome analysis identified 807 maternally biased expressed genes (MBGs) and 581 paternally biased expressed genes (PBGs) in preimplantation stages. MBGs became obviously appeared at the four-cell stage and contribute to EGA initiation, whereas PBGs preferentially appeared at the eight-cell stage, and possibly affect embryo compaction and trophectoderm specification. Regulatory network analysis revealed DUX4, EGR2 and DUXA as key transcription factors for MBGs expression as well as ZNF263 and KLF3 for PBGs expression. Furthermore, we revealed that the expression of MBGs and PBGs，especially PBGs, probably due to DNA methylation differences between the parental genomes. Together, our results provide a valuable resource to understand parental genome activation and may help to dissect parent-of-origin effect on early human development.
2019-10-08 | GSE133855 | GEO
Project description:To investigate the contribution of parental genomes to early embryogenesis, we systematically profiled the single-cell transcriptomes of human biparental and uniparental embryos from one-cell to morula stages. We observed that uniparental embryos exhibit variable and overall less activation patterns of embryonic genome activation (EGA). Comparative transcriptome analysis identified 807 maternally biased expressed genes (MBGs) and 581 paternally biased expressed genes (PBGs) in preimplantation stages. MBGs became obviously appeared at the four-cell stage and contribute to EGA initiation, whereas PBGs preferentially appeared at the eight-cell stage, and possibly affect embryo compaction and trophectoderm specification. Regulatory network analysis revealed DUX4, EGR2 and DUXA as key transcription factors for MBGs expression as well as ZNF263 and KLF3 for PBGs expression. Furthermore, we revealed that the expression of MBGs and PBGs especially PBGs, probably due to DNA methylation differences between the parental genomes. Together, our results provide a valuable resource to understand parental genome activation and may help to dissect parent-of-origin effect on early human development.
2019-10-08 | GSE133854 | GEO
Project description:Single-cell transcriptome analysis of uniparental embryos reveals parent-of-origin effects on human preimplantation development
| PRJNA552816 | ENA
Project description:Single-cell transcriptome analysis of uniparental embryos reveals parent-of-origin effects on human preimplantation development [methylation]
| PRJNA552819 | ENA
Project description:Single-cell transcriptome analysis of uniparental embryos reveals parent-of-origin effects on human preimplantation development [RNA-seq]
| PRJNA552818 | ENA
Project description:The mouse embryo is the canonical model for mammalian preimplantation development. Recent advances in single cell profiling allow detailed analysis of embryogenesis in other eutherian species, including human, to distinguish conserved from divergent regulatory programs and signalling pathways in the rodent paradigm. Here, we identify and compare transcriptional features of human, marmoset and mouse embryos by single cell RNA-seq. Zygotic genome activation correlates with the presence of polycomb repressive complexes in all three species, while ribosome biogenesis emerges as a predominant attribute in primate embryos, supporting prolonged translation of maternally deposited RNAs. We find that transposable element expression signatures are species, stage and lineage specific. The pluripotency network in the primate epiblast lacks certain regulators that are operative in mouse, but encompasses WNT components and genes associated with trophoblast specification. Sequential activation of GATA6, SOX17 and GATA4 markers of primitive endoderm identity is conserved in primates. Unexpectedly, OTX2 is also associated with primitive endoderm specification in human and non-human primate blastocysts. Our cross-species analysis demarcates both conserved and primate-specific features of preimplantation development, and underscores the molecular adaptability of early mammalian embryogenesis.
| S-EPMC6240320 | biostudies-literature
Project description:Chromosome instability is inherent to human IVF embryos, but the full spectrum and developmental fate of chromosome anomalies remain uncharacterized. Using haplotyping-based preimplantation genetic testing for monogenic diseases (PGT-M), we mapped the parental and mechanistic origin of common and rare genomic abnormalities in 2300 cleavage stage and 361 trophectoderm biopsies. We show that while single whole chromosome aneuploidy arises due to chromosome-specific meiotic errors in the oocyte, segmental imbalances predominantly affect paternal chromosomes, implicating sperm DNA damage in segmental aneuploidy formation. We also show that postzygotic aneuploidy affects multiple chromosomes across the genome and does not discriminate between parental homologs. In addition, 6% of cleavage stage embryos demonstrated signatures of tripolar cell division with excessive chromosome loss, however hypodiploid blastomeres can be excluded from further embryo development. This observation supports the selective-pressure hypothesis in embryos. Finally, considering that ploidy violations may constitute a significant proportion of non-viable embryos, using haplotyping-based approach to map these events might further improve IVF success rate.
| S-EPMC8497526 | biostudies-literature
Project description:In the present study quantitative real-time PCR was used to determine the expression status of eight imprinted genes (GRB10, H19, IGF2R, XIST, IGF2, NNAT, PEG1 and PEG10) during preimplantation development, in normal fertilized and uniparental porcine embryos. The results demonstrated that, in all observed embryo samples, a non imprinted gene expression pattern up to the 16-cell stage of development was common for most genes. This was true for all classes of embryo, regardless of parental-origins and the direction of imprint. However, several differentially expressed genes (H19, IGF2, XIST and PEG10) were detected amongst the classes at the blastocyst stage of development. Most interestingly and despite the fact that maternally and paternally expressed genes should not be expressed in androgenones and parthenogenones, respectively, both uniparental embryos expressed these genes when tested for in this study. In order to account for this phenomenon, we compared the expression patterns of eight imprinted genes along with the methylation status of the IGF2/H19 DMR3 in haploid and diploid parthenogenetic embryos. Our findings revealed that IGF2, NNAT and PEG10 were silenced in haploid but not diploid parthenogenetic blastocysts and differential methylation of the IGF2/H19 DMR3 was consistently observed between haploid and diploid parthenogenetic blastocysts. These results appear to suggest that there exists a process to adjust the expression status of imprinted genes in diploid parthenogenetic embryos and that this phenomenon may be associated with altered methylation at an imprinting control region. In addition we believe that imprinted expression occurs in at least four genes, namely H19, IGF2, XIST and PEG10 in porcine blastocyst stage embryos.
| S-EPMC3137617 | biostudies-literature
Project description:The discovery of embryonic cell-free DNA (cfDNA) in spent embryo culture media (SECM) has brought hope for noninvasive preimplantation genetic testing. However, the cellular origins of SECM cfDNA are not sufficiently understood, and methods for determining maternal DNA contamination are limited. Here, we performed whole-genome DNA methylation sequencing for SECM cfDNA. Our results demonstrated that SECM cfDNA was derived from blastocysts, cumulus cells, and polar bodies. We identified the cumulus-specific differentially methylated regions (DMRs) and oocyte/polar body-specific DMRs, and established an algorithm for deducing the cumulus, polar body, and net maternal DNA contamination ratios in SECM. We showed that DNA methylation sequencing accurately detected chromosome aneuploidy in SECM and distinguished SECM samples with low and high false negative rates and gender discordance rates, after integrating the origin analysis. Our work provides insights into the characterization of embryonic DNA in SECM and provides a perspective for noninvasive preimplantation genetic testing in reproductive medicine.
| S-EPMC8203451 | biostudies-literature
Project description:Mouse studies have been instrumental in forming our current understanding of early cell-lineage decisions; however, similar insights into the early human development are severely limited. Here, we present a comprehensive transcriptional map of human embryo development, including the sequenced transcriptomes of 1,529 individual cells from 88 human preimplantation embryos. These data show that cells undergo an intermediate state of co-expression of lineage-specific genes, followed by a concurrent establishment of the trophectoderm, epiblast, and primitive endoderm lineages, which coincide with blastocyst formation. Female cells of all three lineages achieve dosage compensation of X chromosome RNA levels prior to implantation. However, in contrast to the mouse, XIST is transcribed from both alleles throughout the progression of this expression dampening, and X chromosome genes maintain biallelic expression while dosage compensation proceeds. We envision broad utility of this transcriptional atlas in future studies on human development as well as in stem cell research.
| S-EPMC4868821 | biostudies-other