Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
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DOI：
10.1093/hmg/ddh124
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发表时间：
2004-06-01
影响因子：
3.5
通讯作者：
Pilia, G
中科院分区：
文献类型：
--
作者：
Uda, M;Ottolenghi, C;Pilia, G
FOXL2 突变会导致女性性腺发育不全或卵巢早衰 (POF)，以及两性的眼睑/前额畸形（“睑裂-下垂-内眦赘皮综合征”，BPES）。在这里，我们报告缺乏 Foxl2 的小鼠重现了人类 BPES 的相关特征：雄性和雌性体型较小，表现出独特的颅面形态，上眼睑缺失。此外，在小鼠和人类中，不育仅限于雌性。 Foxl2缺失动物的特征指向了POF的一种新机制，即从原始卵泡形成时起，所有主要体细胞谱系都无法围绕正在生长的卵母细胞发育。因此，Foxl2 破坏为卵巢的组织发生和生殖能力提供了模型。
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Furthermore, in mice as in humans, sterility is confined to females. Features of Foxl2 null animals point toward a new mechanism of POF, with all major somatic cell lineages failing to develop around growing oocytes from the time of primordial follicle formation. Foxl2 disruption thus provides a model for histogenesis and reproductive competence of the ovary.