Institute for Regenerative Medicine, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai, 200120, China.
Clinical and Translation Research Center of Shanghai First Maternity and Infant Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, 200092, China.
Cell Mol Life Sci. 2019 Jun;76(12):2349-2367. doi: 10.1007/s00018-019-03069-6. Epub 2019 Mar 19.
Haploid embryonic stem cells (haESCs) contain only one set of genomes inherited from the sperm or egg and are termed AG- or PG-haESCs, respectively. Mammalian haESCs show genome-wide hypomethylation and dysregulated imprinting, whereas they can sustain genome integrity during derivation and long-term propagation. In addition, haESCs exhibit similar pluripotency to traditional diploid ESCs but are unique because they function as gametes and have been used to produce semi-cloned animals. More strikingly, unisexual reproduction has been achieved in mice by using haESCs. In combination with a gene editing or screening system, haESCs represent a powerful tool for studies of underlying gene functions and explorations of mechanisms of genetic and epigenetic regulation not only at the cellular level in vitro but also at the animal level in vivo. More importantly, genetically edited AG-haESC lines may further serve as an ideal candidate for the establishment of a sperm bank, which is a highly cost-effective approach, and a wide range of engineered semi-cloned mice have been produced. Here, we review the historical development, characteristics, advantages and disadvantages of haESCs. Additionally, we present an in-depth discussion of the recent advances in haESCs and their potential applications.
单倍体胚胎干细胞(haESCs)仅包含一组来自精子或卵子的基因组,分别称为 AG 或 PG-haESCs。哺乳动物 haESCs 表现出全基因组低甲基化和印迹失调,而在其起源和长期传代过程中能够维持基因组完整性。此外,haESCs 表现出与传统二倍体 ESCs 相似的多能性,但它们是独特的,因为它们作为配子发挥作用,并已被用于生产半克隆动物。更引人注目的是,通过使用 haESCs 在小鼠中实现了单性生殖。与基因编辑或筛选系统相结合,haESCs 代表了一种强大的工具,可用于研究潜在基因功能和探索遗传和表观遗传调控机制,不仅在体外细胞水平上,而且在体内动物水平上。更重要的是,经过基因编辑的 AG-haESC 系可进一步作为精子库的理想候选者,这是一种极具成本效益的方法,并且已经产生了广泛的工程化半克隆小鼠。在这里,我们回顾了 haESCs 的历史发展、特征、优势和劣势。此外,我们还深入讨论了 haESCs 的最新进展及其潜在应用。