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Human Molecular Genetics 2008 17(R1):R10-R15; doi:10.1093/hmg/ddn170
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

This article appears in the following Human Molecular Genetics issue: Stem Cells and Regeneration [View the issue table of contents]

Aneuploidy and early human embryo development

Gayane Ambartsumyan1,5 and Amander T. Clark1,2,3,4,*

1 Department of Molecular Cell and Developmental Biology 2 Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research 3 Molecular Biology Institute 4 Jonsson Comprehensive Cancer Center 5 Department of Obstetrics and Gynecology, University of California, Los Angeles, CA 90095, USA

* To whom correspondence should be addressed at: Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, 621 Charles E Young Drive South, Los Angeles, CA 90019, USA. Tel: +1 3107944201; Email: clarka{at}ucla.edu

Received February 21, 2008; Accepted June 5, 2008

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.


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[Abstract] [Full Text] [PDF]


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