Human Molecular Genetics Advance Access published online on March 31, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh124
© 2004 by Oxford University Press
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland, USA 21224; Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c/o Ospedale Microcitemico, Via Jenner s/n, Cagliari, Italy 09100
* To whom correspondence should be addressed. E-mail: pilia{at}unica.it.
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.
Article
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
2 Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland, USA 21224
3 Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, c/o Ospedale Microcitemico, Via Jenner s/n, Cagliari, Italy 09100
4 Medical Genetics, Department of Mother and Child, University of Modena and Reggio-Emilia, Policlínico, Via del Pozzo 71, 41100 Modena, Italy
Abstract 
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S.-Y. Kim, J. Weiss, M. Tong, M. M. Laronda, E.-J. Lee, and J. L. Jameson Foxl2, a Forkhead Transcription Factor, Modulates Nonclassical Activity of the Estrogen Receptor-{alpha} Endocrinology, November 1, 2009; 150(11): 5085 - 5093. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Meduri, A. Bachelot, C. Duflos, B. Bstandig, C. Poirot, C. Genestie, R. Veitia, E. De Baere, and P. Touraine FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report Hum. Reprod., October 9, 2009; (2009) dep355v1. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Edson, A. K. Nagaraja, and M. M. Matzuk The Mammalian Ovary from Genesis to Revelation Endocr. Rev., October 1, 2009; 30(6): 624 - 712. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Adhikari and K. Liu Molecular Mechanisms Underlying the Activation of Mammalian Primordial Follicles Endocr. Rev., August 1, 2009; 30(5): 438 - 464. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P Laissue, B Lakhal, B A Benayoun, A Dipietromaria, R Braham, H Elghezal, P Philibert, A Saad, C Sultan, M Fellous, et al. Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2 J. Med. Genet., July 1, 2009; 46(7): 455 - 457. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Lei, T. Karpova, K. I. Hornbaker, D. A. Rice, and L. L. Heckert Distinct Transcriptional Mechanisms Direct Expression of the Rat Dmrt1 Promoter in Sertoli Cells and Germ Cells of Transgenic Mice Biol Reprod, July 1, 2009; 81(1): 118 - 125. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Z. Liu, M. D. Rudd, I. Hernandez-Gonzalez, I. Gonzalez-Robayna, H.-Y. Fan, A. J. Zeleznik, and J. S. Richards FSH and FOXO1 Regulate Genes in the Sterol/Steroid and Lipid Biosynthetic Pathways in Granulosa Cells Mol. Endocrinol., May 1, 2009; 23(5): 649 - 661. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Boyer, M. Paquet, M.-N. Lague, L. Hermo, and D. Boerboom Dysregulation of WNT/CTNNB1 and PI3K/AKT signaling in testicular stromal cells causes granulosa cell tumor of the testis Carcinogenesis, May 1, 2009; 30(5): 869 - 878. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. L. Blount, K. Schmidt, N. J. Justice, W. W. Vale, W. H. Fischer, and L. M. Bilezikjian FoxL2 and Smad3 Coordinately Regulate Follistatin Gene Transcription J. Biol. Chem., March 20, 2009; 284(12): 7631 - 7645. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. A. Benayoun, F. Batista, J. Auer, A. Dipietromaria, D. L'Hote, E. De Baere, and R. A. Veitia Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations Hum. Mol. Genet., February 15, 2009; 18(4): 632 - 644. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J. Trombly, T. K. Woodruff, and K. E. Mayo Suppression of Notch Signaling in the Neonatal Mouse Ovary Decreases Primordial Follicle Formation Endocrinology, February 1, 2009; 150(2): 1014 - 1024. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Hiramatsu, S. Matoba, M. Kanai-Azuma, N. Tsunekawa, Y. Katoh-Fukui, M. Kurohmaru, K.-i. Morohashi, D. Wilhelm, P. Koopman, and Y. Kanai A critical time window of Sry action in gonadal sex determination in mice Development, January 1, 2009; 136(1): 129 - 138. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Da Silva-Buttkus, G. S. Jayasooriya, J. M. Mora, M. Mobberley, T. A. Ryder, M. Baithun, J. Stark, S. Franks, and K. Hardy Effect of cell shape and packing density on granulosa cell proliferation and formation of multiple layers during early follicle development in the ovary J. Cell Sci., December 1, 2008; 121(23): 3890 - 3900. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. A. Benayoun, S. Caburet, A. Dipietromaria, M. Bailly-Bechet, F. Batista, M. Fellous, D. Vaiman, and R. A. Veitia The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles Hum. Mol. Genet., October 15, 2008; 17(20): 3118 - 3127. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Andreu-Vieyra, R. Chen, and M. M. Matzuk Conditional Deletion of the Retinoblastoma (Rb) Gene in Ovarian Granulosa Cells Leads to Premature Ovarian Failure Mol. Endocrinol., September 1, 2008; 22(9): 2141 - 2161. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Jeong, X. Li, R. J. McEvilly, M. G. Rosenfeld, T. Lufkin, and J. L. R. Rubenstein Dlx genes pattern mammalian jaw primordium by regulating both lower jaw-specific and upper jaw-specific genetic programs Development, September 1, 2008; 135(17): 2905 - 2916. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A.-A. Chassot, F. Ranc, E. P. Gregoire, H. L. Roepers-Gajadien, M. M. Taketo, G. Camerino, D. G. de Rooij, A. Schedl, and M.-C. Chaboissier Activation of {beta}-catenin signaling by Rspo1 controls differentiation of the mammalian ovary Hum. Mol. Genet., May 1, 2008; 17(9): 1264 - 1277. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Ottolenghi, E. Pelosi, J. Tran, M. Colombino, E. Douglass, T. Nedorezov, A. Cao, A. Forabosco, and D. Schlessinger Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells Hum. Mol. Genet., December 1, 2007; 16(23): 2795 - 2804. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. B John, L. J Shirley, T. D Gallardo, and D. H Castrillon Specificity of the requirement for Foxo3 in primordial follicle activation Reproduction, May 1, 2007; 133(5): 855 - 863. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D.-S. Wang, T. Kobayashi, L.-Y. Zhou, B. Paul-Prasanth, S. Ijiri, F. Sakai, K. Okubo, K.-i. Morohashi, and Y. Nagahama Foxl2 Up-Regulates Aromatase Gene Transcription in a Female-Specific Manner by Binding to the Promoter as Well as Interacting with Ad4 Binding Protein/Steroidogenic Factor 1 Mol. Endocrinol., March 1, 2007; 21(3): 712 - 725. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Wilhelm, S. Palmer, and P. Koopman Sex Determination and Gonadal Development in Mammals Physiol Rev, January 1, 2007; 87(1): 1 - 28. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. S. Ellsworth, N. Egashira, J. L. Haller, D. L. Butts, J. Cocquet, C. M. Clay, R. Y. Osamura, and S. A. Camper FOXL2 in the Pituitary: Molecular, Genetic, and Developmental Analysis Mol. Endocrinol., November 1, 2006; 20(11): 2796 - 2805. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Mazaud Guittot, C. J. Guigon, N. Coudouel, and S. Magre Consequences of Fetal Irradiation on Follicle Histogenesis and Early Follicle Development in Rat Ovaries Biol Reprod, November 1, 2006; 75(5): 749 - 759. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K.R. Barnett, C. Schilling, C.R. Greenfeld, D. Tomic, and J.A. Flaws Ovarian follicle development and transgenic mouse models Hum. Reprod. Update, September 1, 2006; 12(5): 537 - 555. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Pannetier, S. Fabre, F. Batista, A. Kocer, L. Renault, G. Jolivet, B. Mandon-Pepin, C. Cotinot, R. Veitia, and E. Pailhoux FOXL2 activates P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development. J. Mol. Endocrinol., June 1, 2006; 36(3): 399 - 413. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. A. Pangas and A. Rajkovic Transcriptional regulation of early oogenesis: in search of masters Hum. Reprod. Update, January 1, 2006; 12(1): 65 - 76. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Ottolenghi, S. Omari, J. E. Garcia-Ortiz, M. Uda, L. Crisponi, A. Forabosco, G. Pilia, and D. Schlessinger Foxl2 is required for commitment to ovary differentiation Hum. Mol. Genet., July 15, 2005; 14(14): 2053 - 2062. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Tao, M. Shimizu, R. Kusumoto, K. Ono, S. Noji, and H. Ohuchi A dual role of FGF10 in proliferation and coordinated migration of epithelial leading edge cells during mouse eyelid development Development, July 15, 2005; 132(14): 3217 - 3230. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. H-C Yao and B. Capel Temperature, Genes, and Sex: a Comparative View of Sex Determination in Trachemys scripta and Mus musculus J. Biochem., July 1, 2005; 138(1): 5 - 12. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. Guigon, N. Coudouel, S. Mazaud-Guittot, M. G. Forest, and S. Magre Follicular Cells Acquire Sertoli Cell Characteristics after Oocyte Loss Endocrinology, July 1, 2005; 146(7): 2992 - 3004. [Abstract] [Full Text] [PDF]
|
|