Liu WeiQiang, Guo LiYuan, He WenZhi, Li Qing, Sun XiaoFang
Key Laboratory for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China.
J Reprod Dev. 2012;58(6):642-8. doi: 10.1262/jrd.2012-076. Epub 2012 Jul 20.
Parthenote-derived human embryonic stem cells (phESCs) have many advantages over conventionally derived human embryonic stem cells (hESCs), but a more thorough investigation of these cells is needed before they can be implemented in cell therapies. In this work, we used a Cytogenetics Whole-Genome Array to study the copy number variation (CNV) status in phESCs and hESCs. We also investigated X chromosome inactivation (XCI) and expression levels of marker genes in these cells. More CNVs were found in phESCs than in hESCs in the present study, and gene expression appeared to be associated with the gain or loss of CNVs. In addition, a variable XCI status and different expression pattern of paternally expressed imprinted gene were also found in phESCs. In conclusion, although phESCs had a similar pluripotent profile to conventionally derived hESCs, these cells differed in imprinted gene expression, XCI status and number of CNVs. Our work highlights the need for a deeper investigation to elucidate the genetic and epigenetic characteristics of these cells.
孤雌胚来源的人类胚胎干细胞（phESCs）相较于传统方法获得的人类胚胎干细胞（hESCs）具有诸多优势，但在其能够应用于细胞治疗之前，还需要对这些细胞进行更深入的研究。在本研究中，我们使用细胞遗传学全基因组芯片来研究phESCs和hESCs中的拷贝数变异（CNV）状态。我们还研究了这些细胞中的X染色体失活（XCI）及标记基因的表达水平。在本研究中，phESCs中发现的CNV比hESCs更多，并且基因表达似乎与CNV的增加或减少有关。此外，在phESCs中还发现了可变的XCI状态和父源表达的印记基因的不同表达模式。总之，尽管phESCs与传统方法获得的hESCs具有相似的多能性特征，但这些细胞在印记基因表达、XCI状态和CNV数量方面存在差异。我们的研究强调了深入研究以阐明这些细胞的遗传和表观遗传特征的必要性。
