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Maternal factor OTX2 regulates human embryonic genome activation and early development
Qiuyan Wang1, Chuanxin Zhang2,3, Yanna Dang1
1Center for Stem Cell Biology and Regenerative Medicine, MOE Key Laboratory of Bioinformatics, New Cornerstone Science Laboratory, School of Life Sciences, Tsinghua-Peking Center for Life Sciences, Tsinghua University, Beijing, China.
Nature Genetics
|October 28, 2025
Summary
OTX2, a maternal transcription factor, is essential for initiating human embryonic genome activation (EGA). It directly regulates key EGA genes and repetitive elements, ensuring proper early development.
Area of Science:
- Developmental Biology
- Genetics
- Epigenetics
Background:
- Transcription factors (TFs) initiate embryonic genome activation (EGA) in many species.
- The specific roles of TFs in human EGA are not well understood.
Purpose of the Study:
- To investigate the role of the maternal TF OTX2 in human embryonic genome activation (EGA) and early development.
Main Methods:
- Studied OTX2 function in human embryos using knockdown and overexpression techniques.
- Analyzed gene activation, TF binding at promoters/enhancers, and chromatin accessibility.
- Investigated the impact of OTX2 and TPRXL knockdown on EGA.
Main Results:
- OTX2 is crucial for human EGA, activating genes like TPRX1/2 and repeats HERVL-int/MLT2A1 at the four-cell stage.
- OTX2 binds directly to EGA targets, including repetitive elements, and enhances chromatin accessibility.
- Knockdown defects were partially rescued by TPRX1/2 overexpression; joint OTX2/TPRXL knockdown worsened EGA defects.
Conclusions:
- OTX2 is a critical maternal TF that initiates human embryonic genome activation.
- OTX2 regulates EGA genes and repetitive elements, influencing chromatin accessibility and development.
- These findings provide insights into the molecular mechanisms governing the start of human life.
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