Abstract
Infertility is a worldwide concern that can be treated with in vitro fertilization (IVF). Improvements in IVF and infertility treatment depend largely on better understanding of the molecular mechanisms for human preimplantation development. Several large-scale studies have been conducted to identify gene expression patterns for the first five days of human development, and many functional studies utilize mouse as a model system. We have identified genes of possible importance for this time period by analyzing human microarray data and available data from online databases. We selected 70 candidate genes for human preimplantation development and investigated their expression in the early mouse development from oocyte to the 8-cell stage. Maternally loaded genes expectedly decreased in expression during development both in human and mouse. We discovered that 25 significantly upregulated genes after fertilization in human included 13 genes whose orthologs in mouse behaved differently and mimicked the expression profile of maternally expressed genes. Our findings highlight many significant differences in gene expression patterns during mouse and human preimplantation development. We also describe four cancer-testis antigen families that are also highly expressed in human embryos: PRAME, SSX, GAGE and MAGEA.
Highlights
Infertility is a significant medical problem affecting tens of millions of couples worldwide [1]
Probes with significant changes in both datasets were included for further analysis, and classified into three clusters according to the expression pattern: ‘‘Up’’, ‘‘Up-down’’ and ‘‘Down’’
Probes belonging to the cluster ‘‘Down’’ were downregulated by 8-cell or blastocyst stages in both studies (8319 probes in Zhang, 7520 probes in Xie) including 2474 common probes corresponding to 2025 genes
Summary
Infertility is a significant medical problem affecting tens of millions of couples worldwide [1]. The IVF treatment includes culturing of the human embryo up to the whole preimplantation period, covering many crucial steps in the early embryo development: the fusion of the oocyte and sperm pronuclei at 1-cell stage, maternal transcript degradation, activation of the zygotic genes at 4- and 8-cell stages and lineage decisions in the blastocyst stage. Loaded genes are downregulated before the blastocyst stage and include genes essential for oocyte maturation and embryo development, such as HSF1 [12] and NLRP5 [13]. ZGA includes the transcription of known genes important for pluripotency, embryo development and lineage specification, such as NANOG [17,18]
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