Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation

Kehkooi Kee, Vanessa T. Angeles, Martha Flores, Ha Nam Nguyen and Renee A. Reijo Pera ()
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Kehkooi Kee: Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University School of Medicine, Stanford University, Palo Alto, California 94305, USA
Vanessa T. Angeles: Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University School of Medicine, Stanford University, Palo Alto, California 94305, USA
Martha Flores: Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University School of Medicine, Stanford University, Palo Alto, California 94305, USA
Ha Nam Nguyen: Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University School of Medicine, Stanford University, Palo Alto, California 94305, USA
Renee A. Reijo Pera: Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology & Regenerative Medicine, Stanford University School of Medicine, Stanford University, Palo Alto, California 94305, USA

Nature, 2009, vol. 462, issue 7270, 222-225

Abstract: A new route to germ cells Defects in germ-cell (oocyte and sperm) development are a leading cause of infertility in men and women. Several studies have shown that germ cells can be differentiated from mouse and human embryonic stem cells, but human germ cells produced in this way generally fail to develop beyond the earliest stages and do not enter meiosis. Now a team from Stanford's Institute for Stem Cell Biology and Regenerative Medicine has developed a system in which primordial germ cells can be derived from both male and female human embryonic stem cells. By silencing and overexpressing germ-cell-specific genes, human germ-cell formation and developmental progression can be modulated. Specifically, the human DAZL gene, which is implicated in infertility, is shown to function in primordial germ-cell formation, whereas closely related family members, DAZ and BOULE, modulate later stages of meiosis and development of haploid male gametes. This system can be used to study germ-cell defects and the potential to correct them therapeutically.

Date: 2009
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DOI: 10.1038/nature08562

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