Mol. Hum. Reprod. Advance Access originally published online on May 8, 2008
Molecular Human Reproduction 2008 14(6):347-355; doi:10.1093/molehr/gan025
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Differential expression of the embryo/cancer gene ECSA(DPPA2), the cancer/testis gene BORIS and the pluripotency structural gene OCT4, in human preimplantation development
1 Molecular Embryology Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK 2Integrated Cancer Research Group, St Vincent’s Faculty of Medicine, University of New South Wales, 384 Victoria Street, Darlinghurst, NSW 2010, Australia 3 Monash Institute for Medical Research, Monash University, 3rd Floor, STRIP Building 75, Clayton, 3800 VIC, Australia
4 Correspondence address. E-mail: 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 sequence A gene (ECSA) and the cancer/testis gene Brother Of the Regulator of Imprinted Sites (BORIS), in human oocytes, preimplantation embryos, primordial germ cells (PGCs) and embryo stem (ES) cells. Their expression profiles are compared with 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 detected 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 ES cells (inner cell mass (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)/human embryo/human ES cells
Submitted on January 2, 2008; resubmitted on April 23, 2008; accepted on May 2, 2008.
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