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  4. Transcriptome profiles and chromatin states in mouse androgenetic haploid embryonic stem cells

Transcriptome profiles and chromatin states in mouse androgenetic haploid embryonic stem cells

Cell Prolif., 2023 · DOI: 10.1111/cpr.13436 · Published: September 1, 2023

Regenerative MedicineGenetics

Simple Explanation

Haploid embryonic stem cells (haESCs) are unique stem cells with only one set of chromosomes, derived from the inner cell mass of haploid blastocysts. These cells undergo chromatin remodeling during derivation, influencing their transcriptome profiles and chromatin structure. This study investigates the transcriptome, nucleosome positioning, and histone modifications of mouse haESC lines, comparing them with other stem cells, oocytes, spermatids, sperm, and fibroblasts to understand their unique characteristics. The research reveals that haESCs have transcriptome profiles closer to naïve pluripotent stem cells, and unlike regular cells, Xist is repressed, meaning no X chromosome inactivation occurs. While haESCs and ESCs share a similar global chromatin structure, some differences exist, like a nucleosome depletion region present in ESCs but absent in haESCs. Furthermore, the study identifies characteristic spatial relationships between transcription factor motifs and nucleosomes in both haESCs and ESCs. Interestingly, specific enhancers are off in haESCs but active in ESCs, these are linked to cell cycle regulation, a mechanism related to haESC self-diploidization. Notably, the examined properties of haESCs remain consistent through passaging, but differ from differentiated cells.

Study Duration
Not specified
Participants
Four mouse androgenetic haESC lines (AOS-14, A129-2, A129-6, and A129-17)
Evidence Level
Not specified

Key Findings

  • 1
    haESCs exhibit transcriptome profiles more similar to those of naïve pluripotent stem cells, with repressed Xist indicating no X chromosome inactivation.
  • 2
    While haESCs and ESCs share a similar global chromatin structure, a nucleosome depletion region is present in ESCs but absent in haESCs.
  • 3
    A specific set of enhancers (4259) are inactive in haESCs but active in ESCs, with functional annotation revealing enrichment in regulation of the cell cycle, linking them to self-diploidization.

Research Summary

This study profiles the transcriptomes, nucleosome positioning, and histone modifications of mouse haESC lines, comparing these profiles with those of other closely-related stem cell lines, MII oocytes, round spermatids, sperm, and mouse embryonic fibroblasts. The results revealed that the gene expression profile and the global chromatin structure of haESCs are highly similar to those of ESCs but significantly different from those of the other cell types. The transcriptome profile and the chromatin structure were found to be preserved during haESC passaging. Moreover, haESCs have a naïve pluripotency state. Specifically, the 4259 enhancers are turned off in haESCs but have an active chromatin state in ESCs and likely function in the self-diploidization of haESCs.

Practical Implications

Understanding haESC characteristics

The study provides insights into the unique transcriptome profile and chromatin structure of haESCs, highlighting their similarities to naïve pluripotent stem cells and differences from other cell types.

Implications for Self-Diploidization

The identification of specific enhancers that are off in haESCs but active in ESCs, and their link to cell cycle regulation, offers potential epigenetic targets to reduce self-diploidization, facilitating haESC maintenance and applications.

Assisted Reproduction and Genetic Analysis

The study contributes to the understanding of how haESCs can be used in genetic analysis and assisted reproduction, providing a basis for improving their stability and functionality in these contexts.

Study Limitations

  • 1
    The study is limited to mouse androgenetic haESCs, and the findings may not be directly applicable to other species or types of stem cells.
  • 2
    The precise mechanisms underlying chromatin remodeling after sperm head injection and haESC derivation remain enigmatic.
  • 3
    Further research is needed to fully understand and manipulate the identified enhancers to reduce self-diploidization of haESCs.

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