Genetics of mammalian reproduction: Modeling the end of the germline

Martin M. Matzuk, Kathleen H. Burns

Research output: Contribution to journalArticlepeer-review


Our understanding of reproduction and early embryonic development has directly enabled our manipulation of the mouse genome for tests of gene function in vivo. In this review, we reflect on the 30 years of work that followed this singular accomplishment. We profile murine models that have given us memorable insights into fundamental processes of male and female gametogenesis and the earliest phases of embryonic life reliant on oocyte-transmitted maternal gene products. We highlight intercellular endocrine and paracrine communications essential to gamete development as well as mechanisms essential for passing the genome, with integrity and appropriate epigenetic marks, on to the next generation. Finally, we reflect on the future of reproductive biology: how advances in clinical genetics will provide special opportunities to understand which reproductive processes are affected by genetic lesions and which may allow mutations to originate.

Original languageEnglish (US)
Pages (from-to)503-528
Number of pages26
JournalAnnual review of physiology
StatePublished - 2012


  • Gametogenesis
  • Preimplantation embryonic development
  • Transgenic mouse

ASJC Scopus subject areas

  • Physiology


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