OMIX

A single-cell transcriptome atlas of human euploid and aneuploid blastocysts

OMIX006931

1Summary
Title A single-cell transcriptome atlas of human euploid and aneuploid blastocysts
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
2Files & Download

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File ID File Title Number/Samples File Type File Size File Suffix Download Times Download
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

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