A single-cell transcriptome atlas of human euploid and aneuploid blastocysts
Title | A single-cell transcriptome atlas of human euploid and aneuploid blastocysts |
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Description | 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. |
Organism | Homo sapiens |
Data Type | Expression Profiling by NGS |
Data Accessibility | Open-access |
BioProject | PRJCA024597 |
Release Date | 2024-07-26 |
Submitter | Lizhi Leng (lenglizhi.csu@163.com) |
Organization | Reproductive and Genetic Hospital of CITIC-Xiangya |
Submission Date | 2024-07-22 |
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File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
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OMIX006931-01 | The raw gene counts for 14908 cells of euploidy and aneuploidies | 1 | Expression Profiling by NGS | 457.11 MB | 14908cells.rawcounts.rds | 0 | |
OMIX006931-02 | The meta data for 14908 cells of euploidy and aneuploidies | 1 | Expression Profiling by NGS | 3.31 MB | 14908cells.defined.by.infercnv.meta.data.txt | 0 | |
OMIX006931-03 | The pseudocounts normalized by ERCC for 14908 cells of euploidy and aneuploidies | 1 | Expression Profiling by NGS | 1.07 GB | 14908cells.raw.counts.normalized.edgeR.ERCC.simple.combat.rmbatch.round2.rds | 0 | |
OMIX006931-04 | The TPM normalized data for 14908 cells of euploidy and aneuploidies | 1 | Expression Profiling by NGS | 827.29 MB | 14908cells.TPM.rmTPM1In2cells2embryo.rds | 0 |