Aneuploidy and early human embryo development
Open Access
- 15 April 2008
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 17 (R1), R10-R15
- https://doi.org/10.1093/hmg/ddn170
Abstract
Human embryo development occurs through a process that encompasses reprogramming, sequential cleavage divisions and mitotic chromosome segregation and embryonic genome activation. Chromosomal abnormalities may arise during germ cell and/or pre-implantation embryo development, and are a major cause of spontaneous miscarriage or birth defects. Nonetheless, model systems suitable for the study of human germ cell and embryo development have been limited until recently. We suggest that human embryonic stem cells may provide a valuable human cell-based model for genetic studies of human pre-implantation pluripotent cells. Here, we review the current literature on diagnosing chromosomal abnormalities in the pre-implantation embryo, and the importance of provisions from the human oocyte in establishing and maintaining the human embryonic genome during the first 3 days post‐conception. We focus on transcriptional analysis of human oocytes and embryos and the unique cell cycle and checkpoint requirements in the early embryo. Taken together, data suggest that the unique programs of the early human embryo, including management of aneuploid cells, may paradoxically promote embryo development but contribute to the high rate of spontaneous miscarriages in human pregnancies.This publication has 26 references indexed in Scilit:
- Developmental Study of Fragile X Syndrome Using Human Embryonic Stem Cells Derived from Preimplantation Genetically Diagnosed EmbryosCell Stem Cell, 2007
- Functional genomics of human pre-implantation developmentBriefings in Functional Genomics and Proteomics, 2007
- Distinct sets of developmentally regulated genes that are expressed by human oocytes and human embryonic stem cellsFertility and Sterility, 2007
- Preimplantation genetic diagnosis: present and futureJournal of Assisted Reproduction and Genetics, 2007
- Checkpoint-apoptosis uncoupling in human and mouse embryonic stem cells: a source of karyotpic instabilityBlood, 2007
- Bone Morphogenetic Proteins Induce Germ Cell Differentiation from Human Embryonic Stem CellsStem Cells and Development, 2006
- The transcriptome of human oocytesProceedings of the National Academy of Sciences of the United States of America, 2006
- Cell Cycle Features of Primate Embryonic Stem CellsThe International Journal of Cell Cloning, 2005
- A New Role of p53 in Maintaining Genetic Stability in Embryonic Stem CellsCell Cycle, 2005
- Embryonic Stem Cell Lines Derived from Human BlastocystsScience, 1998