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Open AccessDOI: 10.1186/s13287-024-03727-yOriginal Research

Development and application of haploid embryonic stem cells

🇨🇳 Original Chinese Title: Development and application of haploid embryonic stem cells

Hai-Song Wang¹,Xin-Rui Ma¹,Yi-Hong Guo¹

Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University

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Development and application of haploid embryonic stem cells
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Published In
Stem Cell Research & Therapy
Published:2024Edition:Vol. 15, None • pp. 116Citation:Hai-Song Wang et al. (2024), Stem Cell Research & Therapy
Impact FactorPremier Chinese Biomedical Journal indexed in SinoBioData: Stem Cell Research & Therapy (干细胞研究与转化).
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Key Takeaways & Executive Findings

  • • Haploid embryonic stem cells (haESCs) combine the advantages of haploidy and pluripotency, enabling efficient genetic screening and drug-targeted therapy. • The establishment of haESCs in various species, from medaka fish to mammals, has overcome the challenge of haploid cell culture and opened new avenues for genetic research. • HaESCs serve as powerful tools for studying X chromosome inactivation, haploid diploidization, and gamete substitution, with potential applications in reproductive medicine. • The review highlights the historical milestones and future directions in haESC research, emphasizing their significance in life sciences and clinical translation.
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Abstract

Haploid cells are a kind of cells with only one set of chromosomes. Compared with traditional diploid cells, haploid cells have unique advantages in gene screening and drug-targeted therapy, due to their phenotype being equal to the genotype. Embryonic stem cells are a kind of cells with strong differentiation potential that can differentiate into various types of cells under specific conditions in vitro. Therefore, haploid embryonic stem cells have the characteristics of both haploid cells and embryonic stem cells, which makes them have significant advantages in many aspects, such as reproductive developmental mechanism research, genetic screening, and drug-targeted therapy. Consequently, establishing haploid embryonic stem cell lines is of great significance. This paper reviews the progress of haploid embryonic stem cell research and briefly discusses the applications of haploid embryonic stem cells.

1. Introduction

The genetic material of most organisms in nature, including humans, contains two sets of chromosomes, one from the mother and the other from the father, called diploid organisms. Diploidy has many advantages, such as effectively preventing the elimination of organisms due to recessive deleterious mutations and maintaining the relative stability of genetics and the biosphere [1, 2]. It also increases genetic diversity through interspecific hybridization, which promotes biological evolution and the creation of new species. However, for gene research, diploidy is a great obstacle, due to the fact the phenotype of recessive genes is difficult to be reflected in heterozygotes. Therefore, for haploid cells, the characteristic that their genotypes are equal to their phenotypes gives them a unique advantage in gene research and drug screening (Fig. 1).

In the natural state, only the gametes with highly specialized structures and functions are haploid cells in mammals [3, 4]. However, oocytes and sperm cannot generally be cultured and amplified for long periods in vitro, so it is difficult to manipulate them genetically. Therefore, successfully establishing mammalian haploid stem cell lines in vitro is significant in promoting mammalian genetics, development, evolution, and other related life science research.

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Cite This Research Paper
Hai-Song Wang, Xin-Rui Ma, Yi-Hong Guo (2026). Development and application of haploid embryonic stem cells. Stem Cell Research & Therapy. https://doi.org/10.1186/s13287-024-03727-y
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Frequently Asked Questions

What are haploid embryonic stem cells (haESCs)?

Haploid embryonic stem cells are cells that contain only one set of chromosomes and possess the pluripotent differentiation potential of embryonic stem cells. They combine the advantages of haploidy (genotype equals phenotype) and pluripotency, making them valuable for genetic screening and drug-targeted therapy.

Why are haploid cells advantageous for genetic research?

In haploid cells, the phenotype directly reflects the genotype, allowing recessive mutations to be easily identified. This simplifies genetic screening and functional studies, as a single copy of a gene is sufficient to observe its effect.

How were haploid embryonic stem cells first established?

The first haploid embryonic stem cell lines were established in medaka fish in 2009, followed by mouse haESCs in 2011. These breakthroughs demonstrated that haploid cells could be cultured in vitro and maintained their differentiation capacity.

What are the potential applications of haESCs?

HaESCs have applications in reproductive developmental research, genetic screening, drug-targeted therapy, and studying X chromosome inactivation and haploid diploidization. They also offer potential for gamete substitution and semi-cloning.

What challenges remain in haESC research?

Challenges include maintaining haploid stability during long-term culture, improving the efficiency of haESC derivation, and translating findings to clinical applications. Future research aims to overcome these hurdles and expand the use of haESCs.

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