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Aneuploidy-driven gene expression profiling in human blastocysts: insights from RNA-Seq analysis
Masood Bazrgar1, Fattaneh Khajehoseini2, Poopak Eftekhari-Yazdi3
1Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. mbazrgar@royaninstitute.org.
Journal of Assisted Reproduction and Genetics
|January 3, 2025
Summary
Aneuploidy in human blastocysts alters gene expression, impacting pathways like transcription and DNA repair. Understanding these changes is key to addressing implantation failure and miscarriage.
Area of Science:
- Reproductive biology
- Genetics
- Molecular biology
Background:
- Preimplantation aneuploidy is a major cause of human implantation failure and embryo miscarriage.
- Understanding the molecular basis of aneuploidy is crucial for improving reproductive outcomes.
Purpose of the Study:
- To investigate gene expression changes in human blastocysts resulting from aneuploidy using RNA-Seq analysis.
- To gain insight into the molecular mechanisms underlying aneuploidy in early human development.
Main Methods:
- Analysis of surplus embryos from preimplantation genetic testing for aneuploidy (PGT-A) candidates.
- Classification of embryos into normal, small chromosome aneuploidy (SCA), and other chromosome aneuploidy (OCA) groups based on array comparative genomic hybridization.
- RNA-Seq analysis to compare transcriptomes between aneuploid and normal blastocysts.
Main Results:
- Transcriptome analysis revealed distinct patterns between normal and aneuploid embryos.
- Upregulation of transcription, ubiquitination, autophagy, DNA repair, and translation pathways in aneuploid embryos.
- Mitochondrial pathways were upregulated in both SCA and OCA groups; apoptosis was upregulated only in OCA.
Conclusions:
- Aneuploidy significantly impacts blastocyst gene expression, irrespective of the specific chromosomes affected.
- These findings contribute to understanding the molecular mechanisms driving aneuploidy and its impact on embryo development.
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