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.

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development / M., Uda; C., Ottolenghi; L., Crisponi; Je, Garcia; M., Deiana; W., Kimber; Forabosco, Antonino; A., Cao; D., Schlessinger; G., Pilia. - In: HUMAN MOLECULAR GENETICS. - ISSN 0964-6906. - 13:11(2004), pp. 1171-1181. [10.1093/hmg/ddh124]

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

FORABOSCO, Antonino;
2004

Abstract

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.
2004
13
11
1171
1181
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development / M., Uda; C., Ottolenghi; L., Crisponi; Je, Garcia; M., Deiana; W., Kimber; Forabosco, Antonino; A., Cao; D., Schlessinger; G., Pilia. - In: HUMAN MOLECULAR GENETICS. - ISSN 0964-6906. - 13:11(2004), pp. 1171-1181. [10.1093/hmg/ddh124]
M., Uda; C., Ottolenghi; L., Crisponi; Je, Garcia; M., Deiana; W., Kimber; Forabosco, Antonino; A., Cao; D., Schlessinger; G., Pilia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/306335
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