Mechanisms of human germ cell development

Seplyarskiy, V. B. & Sunyaev, S. The origin of human mutation in light of genomic data. Nat. Rev. Genet. 22, 672–686 (2021).

Article  CAS  PubMed  Google Scholar 

Bergeron, L. A. et al. Evolution of the germline mutation rate across vertebrates. Nature 615, 285–291 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Arter, M. & Keeney, S. Divergence and conservation of the meiotic recombination machinery. Nat. Rev. Genet. 25, 309–325 (2024).

Article  CAS  PubMed  Google Scholar 

WHO. Infertility Prevalence Estimates, 1990–2021 (2023).

Surani, M. A., Hayashi, K. & Hajkova, P. Genetic and epigenetic regulators of pluripotency. Cell 128, 747–762 (2007).

Article  CAS  PubMed  Google Scholar 

Saitou, M. & Yamaji, M. Primordial germ cells in mice. Cold Spring Harb. Perspect. Biol. 4, a008375 (2012).

Article  PubMed  PubMed Central  Google Scholar 

Lesch, B. J. & Page, D. C. Genetics of germ cell development. Nat. Rev. Genet. 13, 781–794 (2012).

Article  CAS  PubMed  Google Scholar 

Spiller, C., Koopman, P. & Bowles, J. Sex determination in the mammalian germline. Annu. Rev. Genet. 51, 265–285 (2017).

Article  CAS  PubMed  Google Scholar 

Saitou, M. & Miyauchi, H. Gametogenesis from pluripotent stem cells. Cell Stem Cell 18, 721–735 (2016).

Article  CAS  PubMed  Google Scholar 

Saitou, M. & Hayashi, K. Mammalian in vitro gametogenesis. Science 374, eaaz6830 (2021).

Article  CAS  PubMed  Google Scholar 

Hargy, J. & Sasaki, K. The developmental dynamics of the human male germline. Development 150, dev202046 (2023).

Article  CAS  PubMed  Google Scholar 

De Felici, M. in Oogenesis (eds Coticchio, G., Albertini, D. F. & De Santis, L.) 19–37 (Springer-Verlag, 2013).

Tang, W. W., Kobayashi, T., Irie, N., Dietmann, S. & Surani, M. A. Specification and epigenetic programming of the human germ line. Nat. Rev. Genet. 17, 585–600 (2016).

Article  CAS  PubMed  Google Scholar 

Kobayashi, T. & Surani, M. A. On the origin of the human germline. Development 145, dev150433 (2018).

Article  PubMed  Google Scholar 

Hancock, G.V., Wamaitha, S. E., Peretz, L. & Clark, A. T. Mammalian primordial germ cell specification. Development 148, dev189217 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

O’Rahilly, R. & Müller, F. Developmental Stages in Human Embryos Including a Revision of Streeter’s ‘Horizons’ and a Survey of the Carnegie Collection (Carnegie Institution of Washington, 1987).

Nishimura, H., Takano, K., Tanimura, T., Yasuda, M. & Uchida, T. High incidence of several malformations in the early human embryos as compared with infants. Biol. Neonat. 10, 93–107 (1966).

Article  CAS  PubMed  Google Scholar 

Shiota, K. Study of normal and abnormal prenatal development using the Kyoto collection of human embryos. Anat. Rec. 301, 955–959 (2018).

Article  Google Scholar 

Pera, M. F. & Rossant, J. The exploration of pluripotency space: charting cell state transitions in peri-implantation development. Cell Stem Cell 28, 1896–1906 (2021).

Article  CAS  PubMed  Google Scholar 

Wu, J. & Fu, J. Toward developing human organs via embryo models and chimeras. Cell 187, 3194–3219 (2024).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shahbazi, M. N. & Pasque, V. Early human development and stem cell-based human embryo models. Cell Stem Cell 31, 1398–1418 (2024).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thowfeequ, S., Hanna, C. W. & Srinivas, S. Origin, fate and function of extraembryonic tissues during mammalian development. Nat. Rev. Mol. Cell Biol. 26, 255–275 (2025).

Article  CAS  PubMed  Google Scholar 

Hertig, A. T. et al. A thirteen-day human ovum studied histochemically. Am. J. Obstet. Gynecol. 76, 1025–1040 (1958). discussion 1040-1043.

Article  CAS  PubMed  Google Scholar 

Sasaki, K. et al. The germ cell fate of cynomolgus monkeys is specified in the nascent amnion. Dev. Cell 39, 169–185 (2016).

Article  CAS  PubMed  Google Scholar 

Bergmann, S. et al. Spatial profiling of early primate gastrulation in utero. Nature 609, 136–143 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lawson, K. A. et al. Bmp4 is required for the generation of primordial germ cells in the mouse embryo. Genes Dev. 13, 424–436 (1999).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kurimoto, K. et al. Complex genome-wide transcription dynamics orchestrated by Blimp1 for the specification of the germ cell lineage in mice. Genes Dev. 22, 1617–1635 (2008).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ohinata, Y. et al. A signaling principle for the specification of the germ cell lineage in mice. Cell 137, 571–584 (2009).

Article  CAS  PubMed  Google Scholar 

Niu, Y. et al. Dissecting primate early post-implantation development using long-term in vitro embryo culture. Science 366, eaaw5754 (2019).

Article  CAS  PubMed  Google Scholar 

Gong, Y. et al. Ex utero monkey embryogenesis from blastocyst to early organogenesis. Cell 186, 2092–2110.e2023 (2023).

Article  CAS  PubMed  Google Scholar 

Xiao, Z. et al. 3D reconstruction of a gastrulating human embryo. Cell 187, 2855–2874.e2819 (2024).

Article  CAS  PubMed  Google Scholar 

Cui, L. et al. Spatial transcriptomic characterization of a Carnegie stage 7 human embryo. Nat. Cell Biol. 27, 360–369 (2025).

Article  CAS  PubMed  Google Scholar 

Irie, N. et al. SOX17 is a critical specifier of human primordial germ cell fate. Cell 160, 253–268 (2015).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ying, Q. L. et al. The ground state of embryonic stem cell self-renewal. Nature 453, 519–523 (2008).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Loh, K. M. et al. Efficient endoderm induction from human pluripotent stem cells by logically directing signals controlling lineage bifurcations. Cell Stem Cell 14, 237–252 (2014).

Article 

Comments (0)

No login
gif