ArticleNature genetics2024
A single-cell transcriptome atlas of human euploid and aneuploid blastocysts.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Fragmentomic features of cell-free DNA in human spent blastocyst medium and their potential for non-invasive embryo ploidy assessment.Journal of assisted reproduction and genetics · 2026Article
- When Fertilization Is Not Enough: Maternal-Zygotic Transition as a Determinant of Embryo Competence in IVF.International journal of molecular sciences · 2026Review
- Transcriptomics empower assisted reproductive technology in decoding gamete and embryo development potential: a review.Journal of assisted reproduction and genetics · 2025Review
- Signaling Pathways in Human Blastocyst Development: From Molecular Mechanisms to In Vitro Optimization.Journal of developmental biology · 2025Review
- Aneuploidy-driven gene expression profiling in human blastocysts: insights from RNA-Seq analysis.Journal of assisted reproduction and genetics · 2025Article
- Chromosome number alterations cause apoptosis and cellular hypertrophy in induced pluripotent stem cell models of embryonic epiblast cells.Biology open · 2025Article
- Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models.Frontiers in genetics · 2025Article
- Preimplantation development analysis of aneuploid embryos with different chromosomal abnormalities.Heliyon · 2024Article
- Exploring the molecular mechanisms of macrophages in islet transplantation using single-cell analysis.Frontiers in immunology · 2024Article
- Incidence, Clinical Risk Factors, and Pregnancy Outcomes of Trophectoderm- and Inner Cell Mass-Poor-Quality Blastocysts in Single Blastocyst Transfer Cycles: A Retrospective Cohort Study.Reproductive medicine and biologyArticle
- Chromosome segregation errors during early embryonic development.Reproductive medicine and biologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aneuploidy is frequently detected in early human embryos as a major cause of early pregnancy failure. However, how aneuploidy affects cellular function remains elusive. Here, we profiled the transcriptomes of 14,908 single cells from 203 human euploid and aneuploid blastocysts involving autosomal and sex chromosomes. Nearly all of the blastocysts contained four lineages. In aneuploid chromosomes, 19.5% ± 1.2% of the expressed genes showed a dosage effect, and 90 dosage-sensitive domains were identified. Aneuploidy leads to prevalent genome-wide transcriptome alterations. Common effects, including apoptosis, were identified, especially in monosomies, partially explaining the lower cell numbers in autosomal monosomies. We further identified lineage-specific effects causing unstable epiblast development in aneuploidies, which was accompanied by the downregulation of TGF-β and FGF signaling, which resulted in insufficient trophectoderm maturation. Our work provides crucial insights into the molecular basis of human aneuploid blastocysts and may shed light on the cellular interaction during blastocyst development.
Indexed as
Identifiers
38839885What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.