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19 - Human genes modulating primordial germ cell and gamete formation

from Section 4 - Imprinting and reprogramming

Published online by Cambridge University Press:  05 October 2013

By
Valerie L. Baker ,
Ruth Lathi  and
Renee A. Reijo Pera
Edited by
Alan Trounson ,
Roger Gosden  and
Ursula Eichenlaub-Ritter
Valerie L. Baker
Affiliation:
Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA
Ruth Lathi
Affiliation:
Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA
Renee A. Reijo Pera
Affiliation:
Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology and Regenerative Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Palo Alto, CA, USA
Alan Trounson
Affiliation:
California Institute for Regenerative Medicine
Roger Gosden
Affiliation:
Center for Reproductive Medicine and Infertility, Cornell University, New York
Ursula Eichenlaub-Ritter
Affiliation:
Universität Bielefeld, Germany
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Summary

Introduction

Although 10–15% of couples are infertile [1], relatively few studies to date have probed the developmental genetics of human germ cell formation and differentiation in spite of the fact that poor germ cell production (poor quality and/or insufficient quantity) is a leading cause of infertility. Historically, the inaccessibility of germ cell development to studies in vivo and the lack of tools to study the pathways in vitro have limited progress in understanding human germ cell development. In recent years, however, with advances in human genetics, derivation of human embryonic stem cells (hESCs), reprogramming of somatic cells to induced pluripotent stem cells, and advances in clinical progress in in vitro fertilization, studies of human germ cell formation and differentiation are feasible and promise to enhance understanding of the unique pathways of germ cell development and their contribution to preimplantation, fetal, and postnatal development.

Rationale for studies of human germ cell formation and development per se

The examination of human germ cell development remains an important objective in spite of elegant studies in model systems that provide a foundation for understanding the divergence of the somatic and germ cell lineages early in human embryo development. Indeed, there are several unique aspects to human germ cell development that merit investment in these tools: firstly, genes and gene dosages required for human germ cell development differ from those of mice, including both autosomal and sex chromosomal genes and dosages [2–10]. Secondly and most importantly to human health, humans are rare among species in that infertility is remarkably common relative to other species, with nearly half of all infertility cases linked to faulty germ cell development [11]. Moreover, pathologies associated with meiotic errors are numerous in human development relative to other species. Indeed, meiotic chromosome segregation errors occur in as many as 5–20% of human germ cells depending on sex and age [12, 13]. This is in contrast to frequencies of approximately 1/10 000 cells in yeast, 1/1000 cells in flies, and 1/100 cells in mice. Finally, advances in pluripotent stem cell biology provide a unique opportunity to incorporate new strategies into our analysis of human germ cell development. This review addresses fundamental questions regarding human germline origins, function, and pathology and provides a foundation for considering rational therapeutics and diagnostics that inform clinical decisions.

Type
Chapter
Information
Biology and Pathology of the Oocyte
Role in Fertility, Medicine and Nuclear Reprograming
 , pp. 224 - 235
Publisher: Cambridge University Press
Print publication year: 2013

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References

Hull, MGR, Glazener, CMA, Kelly, NJ, et al. Population study of causes, treatment, and outcome of infertility. Brit Med J 1985; 291: 1693–7.CrossRefGoogle ScholarPubMed
Reijo, R, Alagappan, RK, Patrizio, P, Page, DC.Severe oligospermia resulting from deletions of the Azoospermia Factor gene on the Y chromosome. Lancet 1996; 347: 1290–3.CrossRefGoogle ScholarPubMed
Reijo, R, Lee, TY, Salo, P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10(4): 383–93.CrossRefGoogle ScholarPubMed
Vogt, PH, Edelmann, A, Kirsch, S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Gene 1996; 5(7): 933–43.CrossRefGoogle ScholarPubMed
Skaletsky, H, Kuroda-Kawaguchi, T, Minx, PJ, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003; 423: 825–37.CrossRefGoogle ScholarPubMed
Repping, S, van Daalen, S, Brown, L, et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 2006; 38: 463–7.CrossRefGoogle ScholarPubMed
Repping, S, Skaletsky, H, Lange, J, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 71: 906–22.CrossRefGoogle ScholarPubMed
Zinn, AR, Page, DC, Fisher, EMC.Turner syndrome: the case of the missing sex chromosome. Trends Genet 1993; 9: 90–3.CrossRefGoogle ScholarPubMed
Hendry, AP, Wenburg, JK, Bentzen, P, Volk, EC, Quinn, TP.Rapid evolution of reproductive isolation in the wild: evidence from introduced salmon. Science 2000; 290: 516–18.CrossRefGoogle ScholarPubMed
Swanson, WJ, Vacquier, VD.The rapid evolution of reproductive proteins. Nat Rev Genet 2002; 3: 137–44.CrossRefGoogle ScholarPubMed
Menken, J, Larsen, U.Estimating the incidence and prevalence and analyzing the correlates of infertility and sterility. Ann NY Acad Sci 1994; 709(249): 249–65.CrossRefGoogle ScholarPubMed
Hassold, T, Hunt, P.To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2001; 2: 280–91.CrossRefGoogle Scholar
Hunt, PA, Hassold, TJ.Sex matters in meiosis. Science 2002; 296: 2181–3.CrossRefGoogle ScholarPubMed
Saffman, EE, Lasko, P.Germline development in vertebrates and invertebrates. Cell Mol Life Sci 1999; 55: 1141–63.CrossRefGoogle ScholarPubMed
Houston, DW, King, ML.A critical role for Xdazl, a germ plasm-localized RNA, in the differentiation of primordial germ cells inXenopus. Development 2000; 127: 447–56.Google ScholarPubMed
Houston, DW, King, ML.Germ plasm and molecular determinants of germ cell fate. Curr Top Dev Biol 2000; 50: 155–81.CrossRefGoogle ScholarPubMed
Wylie, C.Germ cells. Curr Opin Genet Dev 2000; 10: 410–13.CrossRefGoogle ScholarPubMed
McLaren, A.Primordial germ cells in the mouse. Dev Biol 2003; 262: 1–15.CrossRefGoogle ScholarPubMed
McLaren, A.Signalling for germ cells. Genes Dev 1999; 13: 373–6.CrossRefGoogle Scholar
Liu, Ying Y, Marble, XMA Lawson, KA, Zhao, GQ. Requirement of Bmp8b for the generation of primordial germ cells in the mouse. Mol Endocrinol 2000; 14: 1053–63.Google Scholar
Lawson, KA, Dunn, NR, Roelen, BA, et al. Bmp4 is required for the generation of primordial germ cells in the mouse embryo. Genes Dev 1999; 13: 424–36.CrossRefGoogle ScholarPubMed
Yoshimizu, TObinata, MMatsui, Y.Stage-specific tissue and cell interactions play key roles in mouse germ cell specification. Development 2001; 128: 481–90.Google ScholarPubMed
Tam, P, Zhou, S.The allocation of epiblast cells to ectodermal and germ-line lineages is influenced by position of the cells in the gastrulating mouse embryo. Dev Biol 1996; 178 124–32.CrossRefGoogle ScholarPubMed
Chiquoine, A.The identification, origin and migration of the primordial germ cells in the mouse embryo. Anat Rec 1954; 118: 135–46.CrossRefGoogle ScholarPubMed
Hayashi, K, Ohta, H, Kurimoto, K, Aramaki, S, Saitou, M.Reconstitution of the mouse germ cell specification pathway in culture by pluripotent stem cells. Cell 2011; 146: 519–32.CrossRefGoogle ScholarPubMed
Seki, Y, Yamaji, M, Yabuta, Y, et al. Cellular dynamics associated with the genome-wide epigenetic reprogramming in migrating primordial germ cells in mice. Development 2007; 134: 2627–38.CrossRefGoogle ScholarPubMed
Ohinata, Y, Payer, B, O'Carroll, D, et al. Blimp1 is a critical determinant of the germ cell lineage in mice. Nature 2005; 436: 207–13.CrossRefGoogle ScholarPubMed
Payer, B, Saitou, M, Barton, S, et al. Stella is a maternal effect gene required for normal early development in mice. Curr Biol 2003; 13: 2110–17.CrossRefGoogle ScholarPubMed
Gomperts, M, Garcia-Castro, M, Wylie, C, Heasman, J.Interactions between primordial germ cells play a role in their migration in mouse embryos. Development 1994; 120: 135–41.Google ScholarPubMed
Hajkova, P, Erhardt, S, Lane, N, et al. Epigenetic reprogramming in mouse primordial germ cells. Mech Dev 2002; 117: 15–23.CrossRefGoogle ScholarPubMed
Hackett, J, Zylicz, J, Surani, M.Parallel mechanisms of epigenetic reprogramming in the germline. Trends Genet 2012; 28: 164–74.CrossRefGoogle ScholarPubMed
Thomson, J, Itskovitz-Eldor, J, Shapiro, S, et al. Embryonic stem cell lines derived from human blastocysts. Science 1998; 282: 1145–7.CrossRefGoogle ScholarPubMed
Chavez, S, Meneses, J, Nguyen, H, Kim, S, Reijo Pera, RA.Characterization of six new human embryonic stem cell lines (HSF-7, -8, -9, -10, -12 and -13) derived in minimal animal-component conditions. Stem Cells Dev 2008; 17: 535–46.CrossRefGoogle Scholar
Adewumi, O, Aflatoonian, B, Ahrlund-Richter, L, et al. Characterization of human embryonic stem cell lines by the International Stem Cell Initiative. Nat Biotechnol 2007; 25(7): 803–16.Google ScholarPubMed
Brons, I, Smithers, L, Trotter, M, et al. Derivation of pluripotent epiblast stem cells from mammalian embryos. Nature 2007; 448: 191–5.CrossRefGoogle ScholarPubMed
Tesar, P, Chenoweth, J, Brook, F, et al. New cell lines from mouse epiblast share defining features with human embryonic stem cells. Nature 2007; 448: 196–9.CrossRefGoogle ScholarPubMed
Abeyta, M, Clark, AT, Rodriguez, R, et al. Unique gene expression signatures of independently-derived human embryonic stem cell lines. Hum Mol Genet 2004; 13: 601–8.CrossRefGoogle ScholarPubMed
Clark, AT, Bodnar, MS, Fox, MS, et al. Spontaneous differentiation of germ cells from human embryonic stem cells in vitro. Hum Mol Genet 2004; 13: 727–39.CrossRefGoogle ScholarPubMed
Zwaka, T, Thomson, J.A germ cell origin of embryonic stem cells?Development 2005; 132: 227–33.CrossRefGoogle ScholarPubMed
Okita, K, Ichisaka, T, Yamanaka, S.Generation of germline-competent induced pluripotent stem cells. Nature 2007; 448: 313–18.CrossRefGoogle ScholarPubMed
Takahashi, K, Tanabe, K, Ohnuki, M, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007; 131: 861–72.CrossRefGoogle ScholarPubMed
Takahashi, K, Yamanaka, S.Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006; 126: 663–76.CrossRefGoogle ScholarPubMed
Wernig, M, Meissner, A, Foreman, R, et al. In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state. Nature 2007; 448: 318–25.CrossRefGoogle ScholarPubMed
Yu, J, Vodyanik, M, Smuga-Otto, K, et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 2007; 318: 1917–20.CrossRefGoogle ScholarPubMed
Park, I, Zhao, R, West, J, et al. Reprogramming of human somatic cells to pluripotency with defined factors. Nature 2008; 451: 141–6.CrossRefGoogle ScholarPubMed
Hubner, K, Fuhrmann, G, Christenson, L, et al. Derivation of oocytes from mouse embryonic stem cells. Science 2003; 300: 1251–6.CrossRefGoogle ScholarPubMed
Lacham-Kaplan, O, Chy, H, Trounson, A.Testicular cell conditioned medium supports differentiation of embryonic stem (ES) cells into ovarian structures containing oocytes. Stem Cells 2005; 24: 266–73.CrossRefGoogle Scholar
Toyooka, Y, Tsunekawa, N, Akasu, R, Noce, T.Embryonic stem cells can form germ cellsin vitro. Proc Natl Acad Sci USA 2003; 100: 11457–62.CrossRefGoogle ScholarPubMed
Geijsen, N, Horoschak, M, Kim, K, et al. Derivation of embryonic germ cells and male gametes from embryonic stem cells. Nature 2004; 427: 148–54.CrossRefGoogle ScholarPubMed
Nayernia, K, Nolte, J, Michelmann, H, et al. In vitro-differentiated embryonic stem cells give rise to male gametes that can generate offspring mice. Dev Cell 2006; 11: 125–32.CrossRefGoogle ScholarPubMed
Clark, AT, Rodriguez, R, Bodnar, M, et al. Human STELLAR, NANOG, and GDF3 genes are expressed in pluripotent cells and map to chromosome 12p13, a hot-spot for teratocarcinoma. Stem Cells 2004; 22: 169–79.CrossRefGoogle Scholar
Bucay, N, Yebra, M, Cirulli, V, et al. A novel approach for the derivation of putative primordial germ cells and sertoli cells from human embryonic stem cells. Stem Cells 2009; 27: 68–77.CrossRefGoogle ScholarPubMed
Tilgner, K, Atkinson, S, Golebiewska, A, et al. Isolation of primordial germ cells from differentiating human embryonic stem cells. Stem Cells 2008; 26: 3075–85.CrossRefGoogle ScholarPubMed
Kee, K, Gonsalves, J, Clark, A, Pera, RR.Bone morphogenetic proteins induce germ cell differentiation from human embryonic stem cells. Stem Cells Dev 2006; 15: 831–7.CrossRefGoogle ScholarPubMed
Kee, K, Angeles, V, Flores, M, Nguyen, H, Reijo Pera, RA.Human DAZL, DAZ and BOULE genes modulate primordial germ cell and haploid gamete formation. Nature 2009; 462: 222–5.CrossRefGoogle ScholarPubMed
Takahashi, K, Okita, K, Nakagawa, M, Yamanaka, S.Induction of pluripotent stem cells from fibroblast cultures. Nat Protoc 2007; 2(12): 3081–9.CrossRefGoogle ScholarPubMed
Park, T, Galic, Z, Conway, A, et al. Derivation of primordial germ cells from human embryonic and induced pluripotent stem cells is significantly improved by coculture with human fetal gonadal cells. Stem Cells 2009; 27: 783–95.CrossRefGoogle ScholarPubMed
Panula, S, Medrano, J, Kee, K, et al. Human germ cell differentiation from fetal- and adult-derived induced pluripotent stem cells. Hum Mol Genet 2010; 20: 752–62.CrossRefGoogle ScholarPubMed
Medrano, J, Ramathal, C, Nguyen, H, Simon, C, Reijo Pera, RA.Divergent RNA-binding proteins, DAZL and VASA, induce meiotic progression in human germ cells derived in vitro. Stem Cells 2012; 30: 441–51.CrossRefGoogle ScholarPubMed
Eguizabal, C, Montserrat, N, Vassena, R, et al. Complete meiosis from human induced pluripotent stem cells. Stem Cells 2011; 29: 1186–95.CrossRefGoogle ScholarPubMed
Novak, I, Lightfoot, D, Wang, H, et al. Mouse embryonic stem cells form follicle-like ovarian structures but do not progress through meiosis. Stem Cells 2006; 24: 1931–6.CrossRefGoogle Scholar
Qing, T, Shi, Y, Qin, H, et al. Induction of oocyte-like cells from mouse embryonic stem cells by co-culture with ovarian granulosa cells. Differentiation 2007; 75: 902–11.CrossRefGoogle ScholarPubMed
Payer, B, Chuva-de-Sousa-Lopes, S, Barton, S, et al. Generation of stella-GFP transgenic mice: a novel tool to study germ cell development. Genesis 2006; 44: 75–83.CrossRefGoogle ScholarPubMed
Salvador, L, Silva, C, Kostetskii, I, Radice, G, Strauss, J.The promoter of the oocyte-specific gene, Gdf9, is active in population of cultured mouse embryonic stem cells with an oocytelike phenotype. Methods 2008; 45: 172–81.CrossRefGoogle Scholar
Nicholas, C, Haston, K, Grewall, A, Longacre, T, Reijo Pera, RA.Transplantation directs oocyte maturation from embryonic stem cells and provides a therapeutic strategy for female infertility. Hum Mol Genet 2009; 18: 4376–89.CrossRefGoogle ScholarPubMed
Nicholas, C, Haston, K, Reijo Pera, RA.Intact fetal ovarian cord formation promotes mouse oocyte survival and development. BMC Dev Biol 2010; 10: 2.CrossRefGoogle ScholarPubMed
Haston, K, Tung, J, Reijo Pera, RA.Dazl functions in maintenance of pluripotency and genetic and epigenetic programs of differentiation in mouse primordial germ cells in vivo and in vitro. PLoS One 2009; 4: e5654.CrossRefGoogle ScholarPubMed
Tiepolo, L, Zuffardi, O.Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119–24.CrossRefGoogle ScholarPubMed
Foote, S, Vollrath, D, Hilton, A, Page, DC.The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 1992; 258: 60–6.CrossRefGoogle ScholarPubMed
Vollrath, D, Foote, S, Hilton, A, et al. The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 1992 258: 52–9.CrossRefGoogle ScholarPubMed
Mulhall, JP, Reijo, R, Alaggappan, R, et al. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 1997; 12(3); 503–8.CrossRefGoogle ScholarPubMed
Page, DC, Silber, S, Brown, LG.Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999; 14: 1722–6.CrossRefGoogle ScholarPubMed
Rappold, GA.The pseudoautosomal regions of the human sex chromosomes. Hum Genet 1993; 92: 315–24.CrossRefGoogle ScholarPubMed
Fisher, EMC, Beer-Romero, P, Brown, LG, et al. Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome. Cell 1990; 63: 1205–18.CrossRefGoogle ScholarPubMed
Turner, A.Syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566–74.CrossRefGoogle Scholar
Saenger, P.Turner's syndrome. N Engl J Med 1996; 335: 1749–54.CrossRefGoogle ScholarPubMed
Roy, A, Matzuk, M.Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction 2006; 131: 207–19.CrossRefGoogle ScholarPubMed
Matzuk, M, Lamb, D.Genetic dissection of mammalian fertility pathways. Nat Cell Biol 2002; 4 Suppl: 41–9.CrossRefGoogle ScholarPubMed
Rebar, R.Premature ovarian failure. Obstet Gynecol 2009; 113: 1355–63.CrossRefGoogle ScholarPubMed
Nelson, L.Primary ovarian insufficiency. N Engl J Med 2009; 360: 606–14.CrossRefGoogle ScholarPubMed
Schuh-Huerta, S, Johnson, N, Rosen, M, et al. Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women. Hum Reprod 2012; 27: 594–608.CrossRefGoogle ScholarPubMed
Rosen, M, Sternfeld, B, Schuh-Huerta, S, et al. Antral follicle count – absence of significant midlife decline. Fertil Steril 2010; 94: 2182–5.CrossRefGoogle ScholarPubMed
Schuh-Huerta, S, Johnson, N, Rosen, M, et al. Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities. Hum Genet 2012; 131: 1709–24.CrossRefGoogle ScholarPubMed
Murray, A.Premature ovarian failure and the FMR1 gene. Semin Reprod Med 2000; 18: 59–66.CrossRefGoogle ScholarPubMed
Li, J, Kawamura, K, Cheng, Y, et al. Activation of dormant ovarian follicles to generate mature eggs. Proc Natl Acad Sci USA 2010; 107: 10280–4.CrossRefGoogle ScholarPubMed
Nicholas, C, Chavez, S, Baker, V, Reijo Pera, RA.Instructing an embryonic stem cell-derived oocyte fate: lessons from endogenous oogenesis. Endocr Rev 2009; 30: 264–83.CrossRefGoogle ScholarPubMed
Reddy, P, Liu, L, Adhikari, D, et al. Oocyte-specific deletion of Pten causes premature activation of the primordial follicle pool. Science 2008; 319(5863): 611–13.CrossRefGoogle ScholarPubMed
Reddy, P, Shen, L, Ren, C, et al. Activation of Akt (PKB) and suppression of FKHRL1 in mouse and rat oocytes by stem cell factor during follicular activation and development. Dev Biol 2005; 281(2): 160–70.CrossRefGoogle ScholarPubMed
Stephenson, M, Awartani, K, Robinson, W.Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod 2002; 17: 446–51.CrossRefGoogle ScholarPubMed
Lathi, R, Westphal, L, Milki, A.Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplanation genetic diagnosis. Fertil Steril 2008; 89: 353–7.CrossRefGoogle ScholarPubMed
Hassold, T, Takaesu, N.Analysis of non-disjunction in human trisomic spontaneous abortions. Prog Clin Biol Res 1989; 311: 115–34.Google ScholarPubMed
Koehler, KE, Hawley, RS, Sherman, S, Hassold, T.Recombination and nondisjunction in humans and flies. Hum Mol Genet 1996; 5 Spec No: 1495–504.CrossRefGoogle ScholarPubMed
Hassold, T, Sherman, S, Hunt, P.Counting cross-overs: characterizing meiotic recombination in mammals. Hum Mol Genet 2000; 9: 2409–19.CrossRefGoogle ScholarPubMed
Kuliev, A, Zlatopolsky, Z, Kirillova, I, Spivakova, J, Janzen, JC.Meiosis errors in over 20,000 oocytes studied in the practice of preimplantation aneuploidy testing. Reprod Biomed Online 2011; 22: 2–8.CrossRefGoogle ScholarPubMed
Mantzouratou, A, Mania, A, Fragouli, E, et al. Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Hum Reprod 2007; 22: 1844–53.CrossRefGoogle ScholarPubMed
Vialard, F, Boitrelle, F, Molina-Gomes, D, Selva, J.Predisposition to aneuploidy in the oocyte. Cytogenet Genome Res 2011; 133: 127–35.CrossRefGoogle ScholarPubMed
Gabriel, A, Thornhill, A, Ottolini, C, et al. Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans. J Med Genet 2011; 48: 433–7.CrossRefGoogle Scholar
McArthur, S, Leigh, D, Marshall, J, et al. Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations. Prenat Diagn 2008; 28: 434–42.CrossRefGoogle ScholarPubMed
McArthur, S, Leigh, D, Marshall, J, de Boer, KA, Jansen, R.Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril 2005; 84: 1628–36.CrossRefGoogle ScholarPubMed
Wong, C, Loewke, K, Bossert, N, et al. Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage. Nat Biotechnol 2010; 28: 1115–21.CrossRefGoogle ScholarPubMed
Hayashi, K, Ogushi, S, Kurimoto, K, et al. Offspring from oocytes derived from in vitro primordial germ-like cells in mice. Science 2012; 338: 971–5.CrossRefGoogle Scholar

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  • Human genes modulating primordial germ cell and gamete formation
    • By Valerie L. Baker, Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA, Ruth Lathi, Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA, Renee A. Reijo Pera, Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology and Regenerative Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Palo Alto, CA, USA
  • Edited by Alan Trounson, Roger Gosden, Ursula Eichenlaub-Ritter, Universität Bielefeld, Germany
  • Book: Biology and Pathology of the Oocyte
  • Online publication: 05 October 2013
  • Chapter DOI: https://doi.org/10.1017/CBO9781139135030.020
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  • Human genes modulating primordial germ cell and gamete formation
    • By Valerie L. Baker, Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA, Ruth Lathi, Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA, Renee A. Reijo Pera, Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology and Regenerative Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Palo Alto, CA, USA
  • Edited by Alan Trounson, Roger Gosden, Ursula Eichenlaub-Ritter, Universität Bielefeld, Germany
  • Book: Biology and Pathology of the Oocyte
  • Online publication: 05 October 2013
  • Chapter DOI: https://doi.org/10.1017/CBO9781139135030.020
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  • Human genes modulating primordial germ cell and gamete formation
    • By Valerie L. Baker, Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA, Ruth Lathi, Department of Obstetrics and Gynecology, Reproductive Endocrinology and Infertility, Stanford School of Medicine, Palo Alto, CA, USA, Renee A. Reijo Pera, Center for Human Embryonic Stem Cell Research and Education, Institute for Stem Cell Biology and Regenerative Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Palo Alto, CA, USA
  • Edited by Alan Trounson, Roger Gosden, Ursula Eichenlaub-Ritter, Universität Bielefeld, Germany
  • Book: Biology and Pathology of the Oocyte
  • Online publication: 05 October 2013
  • Chapter DOI: https://doi.org/10.1017/CBO9781139135030.020
Available formats
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