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Updated: Jul 12, 2025

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Transcriptome Profiling of In-Vivo Produced Bovine Pre-implantation Embryos Using Two-color Microarray Platform
Published on: January 30, 2017
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Isoform-resolved transcriptome of the human preimplantation embryo
Denis Torre1, Nancy J Francoeur2, Yael Kalma3
1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Nature Communications
|October 31, 2023
Summary
Researchers mapped the complete human embryo transcriptome using advanced RNA sequencing. This reveals a vastly more complex landscape of gene expression than previously understood, with thousands of new RNA forms identified.
Area of Science:
- Genomics
- Developmental Biology
- Transcriptomics
Background:
- Human preimplantation development involves complex RNA expression and splicing changes.
- Previous transcriptome studies were limited by short-read sequencing, missing full-length mRNA information.
Purpose of the Study:
- To generate a comprehensive, isoform-resolved transcriptome of early human development.
- To identify novel RNA isoforms and understand their role in embryonic development.
Main Methods:
- Performed long- and short-read RNA sequencing on 73 human embryos (zygote to blastocyst stages).
- Integrated multi-omics datasets, including single-cell 8CLC and blastoid studies.
- Conducted alternative splicing and gene co-expression network analyses.
Main Results:
- Identified 110,212 unannotated isoforms from known genes and 17,964 isoforms from 5,239 unannotated genes.
- Discovered that unannotated isoforms are largely non-coding, primate-specific, and linked to transposable elements.
- Observed splicing disruption and transient gene module upregulation during embryonic genome activation.
Conclusions:
- The human embryo transcriptome is significantly more complex than previously recognized.
- New isoforms, particularly primate-specific non-coding ones, play a role in early development.
- This dataset serves as a crucial resource for future developmental biology research.

