Department of Obstetrics and Gynaecology ; Embryology Lab, University of Thessalia, School of Health Sciences, Faculty of Medicine, Larisa, Greece.
Department of Obstetrics and Gynaecology.
Curr Genomics. 2015 Feb;16(1):32-46. doi: 10.2174/1389202916666141224205025.
Embryo quality during the in vitro developmental period is of great clinical importance. Experimental genetic studies during this period have demonstrated the association between specific gene expression profiles and the production of healthy blastocysts. Although the quality of the oocyte may play a major role in embryo development, it has been well established that the post - fertilization period also has an important and crucial role in the determination of blastocyst quality. A variety of genes (such as OCT, SOX2, NANOG) and their related signaling pathways as well as transcription molecules (such as TGF-β, BMP) have been implicated in the pre- and post-implantation period. Furthermore, DNA methylation has been lately characterized as an epigenetic mark since it is one of the most important processes involved in the maintenance of genome stability. Physiological embryo development appears to depend upon the correct DNA methylation pattern. Due to the fact that soon after fertilization the zygote undergoes several morphogenetic and developmental events including activation of embryonic genome through the transition of the maternal genome, a diverse gene expression pattern may lead to clinically important conditions, such as apoptosis or the production of a chromosomically abnormal embryo. The present review focused on genes and their role during pre-implantation embryo development, giving emphasis on the various parameters that may alter gene expression or DNA methylation patterns. The pre-implantation embryos derived from in vitro culture systems (in vitro fertilization) and the possible effects on gene expression after the prolonged culture conditions are also discussed.
胚胎在体外发育期间的质量具有重要的临床意义。在此期间进行的实验性遗传研究表明,特定基因表达谱与健康囊胚的产生之间存在关联。尽管卵母细胞的质量可能在胚胎发育中起主要作用,但已证实受精后时期在确定囊胚质量方面也起着重要而关键的作用。多种基因(如 OCT、SOX2、NANOG)及其相关信号通路以及转录分子(如 TGF-β、BMP)已被牵涉到植入前和植入后时期。此外,DNA 甲基化最近被描述为一种表观遗传标记,因为它是参与维持基因组稳定性的最重要过程之一。生理胚胎发育似乎取决于正确的 DNA 甲基化模式。由于受精卵在受精后不久经历了几种形态发生和发育事件,包括通过母体基因组的过渡激活胚胎基因组,因此多样化的基因表达模式可能导致具有临床重要意义的情况,如细胞凋亡或产生染色体异常的胚胎。本综述重点介绍了基因及其在胚胎植入前发育过程中的作用,强调了可能改变基因表达或 DNA 甲基化模式的各种参数。还讨论了体外培养系统(体外受精)中获得的植入前胚胎以及在长时间培养条件下对基因表达的可能影响。