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Mol. Hum. Reprod. Advance Access published online on May 8, 2008
Molecular Human Reproduction, doi:10.1093/molehr/gan025
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Differential expression of the embryo/cancer gene ECSA(DPPA2), the cancer/testis gene BORIS and the pluripotency structural gene OCT4, in human pre-implantation development

Marilyn Monk*, Megan Hitchins** and Susan Hawes***

* Molecular Embryology Unit, Institute of Child Health, 30 Guilford Street. London WC1 N 1EH ** Medical Oncology Department, St Vincent's Faculty of Medicine, University of New South Wales, 384 Victoria Street, Darlinghurst, NSW 2010, Australia *** Monash Institute for Medical Research, 3rd Floor, STRIP building 75, Monash University, Clayton, 3800, Victoria, Australia

To whom all correspondence should be sent. mmonk{at}ich.ucl.ac.uk

In this paper, we examine the expression profiles of two new putative pluripotent stem cell genes, the embryo/cancer gene ECSA and the cancer/testis gene BORIS, in human oocytes, preimplantation embryos, primordial germ cells (PGCs) and embryo stem (ES) cells. Their expression is compared to that of the well known pluripotency gene, OCT4, using a primer design that avoids amplification of the multiple OCT4 pseudogenes. As expected, OCT4 is high in human oocytes, down-regulated in early cleavage stages and then expressed de novo in human blastocysts and PGCs. BORIS and ECSA show distinct profiles of expression in that BORIS is predominantly expressed in the early stages of preimplantation development, in oocytes and 4-cell embryos, whereas ECSA is predominantly expressed in the later stages, blastocysts and PGCs. BORIS is not expressed in blastocysts, PGCs or other fetal and adult somatic tissue tested. Thus, BORIS and ECSA, may be involved in two different aspects of reprogramming in development, viz., in late gametogenesis, and at the time of formation of the embryo stem cells (ICM and PGC), respectively. However, in human ES cells, where a deprogrammed stem cell state is stably established in culture, an immunofluoresence study shows that all three genes are co-expressed at the protein level. Thus, following their derivation from ICM cells, ES cells may undergo further transformation in culture to express a number of embryo and germ line stem cell functions which, in normal development, show different temporal and spatial specificity of expression.

Key Words: BORIS OCT4, ECSA(DPPA2), gene expression/human embryo/human ES cells/embryo stem cell gene expression

Submitted on January 2, 2008; resubmitted on April 23, 2008; accepted on May 2, 2008.


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