Female infertility syndromes are among the most prevalent chronic health disorders in women, but their genetic basis remains unknown because of uncertainty regarding the number and identity of ovarian factors controlling the assembly, preservation, and maturation of ovarian follicles. To systematically discover ovarian fertility genes en masse, we employed a mouse model (Foxo3) in which follicles are assembled normally but then undergo synchronous activation. We developed a microarray-based approach for the systematic discovery of tissue-specific genes and, by applying it to Foxo3 ovaries and other samples, defined a surprisingly large set of ovarian factors (n = 348, approximately 1% of the mouse genome). This set included the vast majority of known ovarian factors, 44% of which when mutated produce female sterility phenotypes, but most were novel. Comparative profiling of other tissues, including microdissected oocytes and somatic cells, revealed distinct gene classes and provided new insights into oogenesis and ovarian function, demonstrating the utility of our approach for tissue-specific gene discovery. This study will thus facilitate comprehensive analyses of follicle development, ovarian function, and female infertility.

译文

女性不育综合症是女性中最普遍的慢性健康疾病,但由于不确定控制卵巢卵泡组装,保存和成熟的卵巢因子的数量和特性,其遗传基础仍然未知。为了系统地发现卵巢育性基因,我们采用了小鼠模型(Foxo3),其中卵泡正常组装,然后进行同步激活。我们开发了一种基于微阵列的方法来系统地发现组织特异性基因,并将其应用于Foxo3卵巢和其他样品,从而定义了一套令人惊讶的卵巢因子集合(n = 348,约占小鼠基因组的1%)。该组包括绝大多数已知的卵巢因子,其中44%发生突变时会产生女性不育表型,但大多数是新颖的。对其他组织的比较分析,包括显微解剖的卵母细胞和体细胞,揭示了不同的基因类别,并提供了有关卵子发生和卵巢功能的新见解,证明了我们的方法可用于组织特异性基因的发现。因此,这项研究将有助于对卵泡发育,卵巢功能和女性不育症的综合分析。

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