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Updated: Oct 17, 2025

Transcriptional Analysis by Nascent RNA FISH of In Vivo Trophoblast Giant Cells or In Vitro Short-term Cultures of Ectoplacental Cone Explants
Published on: August 31, 2016
Evolutionary transcriptomics implicates new genes and pathways in human pregnancy and adverse pregnancy outcomes
Katelyn Mika1,2, Mirna Marinić1,2, Manvendra Singh3
1Department of Human Genetics, University of Chicago, Chicago, United States.
Evolutionary shifts in human endometrial gene expression reveal insights into pregnancy origins and diseases. These findings link genetic changes to human-specific pregnancy traits and pathologies, aiding evolutionary medicine.
Area of Science:
- Evolutionary biology
- Reproductive biology
- Genomics
Background:
- Pregnancy in Eutherian (placental) mammals evolved through anatomical and physiological changes.
- Evolutionary history influences normal reproductive functions and predispositions to pregnancy diseases.
Purpose of the Study:
- To investigate gene expression changes in the human endometrium during pregnancy.
- To associate these changes with the evolution of human-specific pregnancy traits and pathologies.
Main Methods:
- Comparative genomics analysis of endometrial gene expression.
- Identification of genes with altered expression in the human lineage.
Main Results:
- Hundreds of genes showed gained or lost endometrial expression in humans.
- Identified genes (e.g., HTR2B, PDCD1LG2, CORIN) linked to human-specific maternal-fetal communication, immunotolerance, and placental development.
- Gene expression changes correlate with human-specific pregnancy traits and pathologies.
Conclusions:
- Evolutionary studies of anatomy complement disease genetics research.
- Findings advance evolutionary medicine and studies of the maternal-fetal interface.
- Identified gene expression changes may inform diagnostics and interventions for adverse pregnancy outcomes.
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