Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

被引：397

作者：

Uda, M

Ottolenghi, C

Deiana, M

Kimber, W

Forabosco, A

Cao, A

Schlessinger, D

Pilia, G

机构：

[1] Osped Microcitem, CNR, Ist Neurogenet & Neurofarmacol, I-09100 Cagliari, Italy

[2] NIA, Genet Lab, Baltimore, MD 21224 USA

[3] Univ Modena & Reggio Emilia, Policlin, Dept Mother & Child, I-41100 Modena, Italy

来源：

HUMAN MOLECULAR GENETICS | 2004年 / 13卷 / 11期

关键词：

D O I：

10.1093/hmg/ddh124

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

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收藏

页码：1171 / 1181

页数：11

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