Transcriptomic profiles of human parthenogenotes: contribution of the maternal genome across the early embryo development.
Level 5 - mechanism / opinion, no new human data
In vitro laboratory study on human cellular bioconstructs (parthenogenotes)
PubMed 41371444 · doi:10.1016/j.xfss.2025.12.003
What was done
Descriptive single-cell RNA sequencing was conducted on 19 single parthenocytes derived from six human parthenogenotes sampled at the first (n = 2), third (n = 2), and fourth (n = 2) cell cycles. The authors analyzed transcript abundance of maternal effect genes (MEGs), expression of key transcription factors, differential gene expression relative to cycle 1, and the timing of embryonic genome activation (EGA) in the absence of paternal genetic material.
What was found
Transcriptional complexity increased across cell cycles, marked by a major transition between the third and fourth cycles coinciding with EGA. Analysis identified 212 differentially expressed genes (DEGs) at the third cycle and 1,515 DEGs at the fourth cycle (fold change ≥ |2| vs. cycle 1), primarily enriched for ribonucleic acid biosynthesis and cell proliferation pathways. Key transcription factors (DUXA, DUX4, Elk-1, E2F-1, Sp1) were identified alongside structured decay of maternal messenger RNA clearance transcripts and persistence of MEGs linked to spindle assembly and cell cycle progression.
Why it matters
This study provides an initial single-cell baseline for maternal genomic dynamics during human preimplantation cleavage, showing that initial transcript degradation and genome activation can occur without paternal input.
Limits
The study is limited by an extremely small sample size (19 cells from 6 constructs, 2 per cycle stage) and omission of the second cell cycle. Uniparental parthenogenotes are an artificial model that may not fully reflect normal biparental embryogenesis, and observed expression patterns lack functional or protein-level validation.