Human Molecular Genetics Advance Access originally published online on March 31, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 11 1171-1181
DOI: 10.1093/hmg/ddh124
Human Molecular Genetics, Vol. 13, No. 11 © Oxford University Press 2004; all rights reserved
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
1Laboratory of Genetics, National Institute on Aging, Baltimore, MD 21224, USA, 2Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c/o Ospedale Microcitemico, Via Jenner s/n, Cagliari 09100, Italy and 3Medical Genetics, Department of Mother and Child, University of Modena and Reggio-Emilia, Policlínico, Via del Pozzo 71, Modena 41100, Italy
Received February 16, 2004; Accepted March 23, 2004
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.
* To whom correspondence should be addressed. Tel: +39 0706095668; Fax: +39 070503696; Email: pilia{at}unica.it
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