Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria, Australia.
Curr Top Dev Biol. 2013;106:89-121. doi: 10.1016/B978-0-12-416021-7.00003-1.
From a developmental biology perspective, gonadogenesis is of particular interest because it provides a unique example of how distinct organs, the testis and ovary, can arise from a common bipotential primordium. Gonadogenesis is also highly relevant from a clinical perspective, as congenital disorders of sex development (DSDs) are not uncommon, occurring in approximately 1 in 4500 live births. In recent years, there has been significant progress in our understanding of the genes and pathways that control important aspects of gonadogenesis including the initial decision to develop as a testis or ovary (sex determination), elaboration and cross-repression of the testis and ovary developmental pathways, and maintenance of the gonadal phenotype after birth. In this chapter, we provide an overview of gonadal morphogenesis and cell lineage specification, focusing primarily on these processes in mice and humans. We also provide an update on the genetic mechanisms that control murine gonadogenesis and maintenance and, where possible, discuss new insights into the pathological mechanisms of DSDs associated with mutation of orthologous genes in mice and humans.
从发育生物学的角度来看，性腺发生特别有趣，因为它提供了一个独特的例子，说明不同的器官，睾丸和卵巢，如何从一个共同的双潜能原基中产生。性腺发生也具有重要的临床意义，因为先天性性别发育障碍（DSD）并不罕见，大约每 4500 例活产中就有 1 例发生。近年来，我们对控制性腺发生重要方面的基因和途径有了更深入的了解，包括作为睾丸或卵巢发育的初始决定（性别决定）、睾丸和卵巢发育途径的详细阐述和交叉抑制，以及出生后性腺表型的维持。在本章中，我们提供了性腺形态发生和细胞谱系特化的概述，主要集中在小鼠和人类的这些过程上。我们还更新了控制小鼠性腺发生和维持的遗传机制，并在可能的情况下，讨论了与小鼠和人类同源基因突变相关的 DSD 病理机制的新见解。
