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

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...

Full description

Saved in:
Bibliographic Details
Published in:Human molecular genetics 2004-06, Vol.13 (11), p.1171-1181
Main Authors: Uda, Manuela, Ottolenghi, Chris, Crisponi, Laura, Garcia, Jose Elias, Deiana, Manila, Kimber, Wendy, Forabosco, Antonino, Cao, Antonio, Schlessinger, David, Pilia, Giuseppe
Format: Article
Language:English
Subjects:
Animals
Blepharophimosis - etiology
Blepharophimosis - genetics
Disease Models, Animal
DNA-Binding Proteins - genetics
DNA-Binding Proteins - physiology
Embryo, Mammalian - pathology
Eyelids - abnormalities
Female
Forkhead Box Protein L2
Forkhead Transcription Factors
Gene Deletion
Immunochemistry
Ki-67 Antigen - immunology
Male
Mice
Mice, Knockout
Ovary - embryology
Ovary - growth & development
Ovary - pathology
Primary Ovarian Insufficiency - etiology
Primary Ovarian Insufficiency - genetics
Primary Ovarian Insufficiency - pathology
Syndrome
Transcription Factors - genetics
Transcription Factors - physiology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/ddh124