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哺乳动物生殖遗传学:生殖系终结的建模。

Genetics of mammalian reproduction: modeling the end of the germline.

机构信息

Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

Annu Rev Physiol. 2012;74:503-28. doi: 10.1146/annurev-physiol-020911-153248.

Abstract

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.

摘要

我们对生殖和早期胚胎发育的理解直接使我们能够操纵小鼠基因组,以在体内测试基因功能。在这篇综述中,我们反思了这一非凡成就之后的 30 年工作。我们介绍了一些鼠类模型,这些模型使我们对雄性和雌性配子发生以及早期胚胎生命阶段有了深刻的认识,这些阶段依赖于卵母细胞传递的母体基因产物。我们强调了细胞间内分泌和旁分泌通讯对于配子发生的重要性,以及对于将基因组完整且具有适当的表观遗传标记传递给下一代的重要机制。最后,我们反思了生殖生物学的未来:临床遗传学的进展将如何提供特殊的机会来了解哪些生殖过程受到遗传损伤的影响,以及哪些过程可能允许突变的产生。

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