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Vol. 2, No. 4-5, 2008
Issue release date: November 2008
Section title: Review Article
Sex Dev 2008;2:219–227
(DOI:10.1159/000152038)

Genetics of Ovarian Differentiation: Rspo1, a Major Player

Chassot A.A. · Gregoire E.P. · Magliano M. · Lavery R. · Chaboissier M.C.
INSERM, U636, Université de Nice-Sophia Antipolis, Laboratoire de Génétique du Développement Normal et Pathologique, Nice, France

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Article / Publication Details

First-Page Preview
Abstract of Review Article

Received: 5/5/2008
Accepted: 6/25/2008
Published online: 11/5/2008

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 1

ISSN: 1661-5425 (Print)
eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD

Abstract

In mammals, the sex of the embryo is determined during development by its commitment either to the male or female genetic program regulating testicular or ovarian organogenesis. Major steps towards unraveling sex determination in mammals are achieved by the identification of key genes involved in human pathologies and the application of mouse genetics to analyze their function. While the expression of Sry and Sox9 is sufficient to induce the male devel- opmental program, the molecular pathways that specify ovarian differentiation were unclear before the recent demonstration that mutations in the RSPO1 gene induce female-to-male sex reversal in XX patients. By generating the corresponding mouse model, we have shown that Rspo1 is so far the earliest known gene controlling the female genetic developmental program. Rspo1 activates the canonical β-catenin signaling pathway required for female somatic cell differentiation and germ cell commitment into meiosis. The aim of this review is to describe the roles of R-spondins (Rspo)in developmental processes and disorders and the current knowledge obtained from murine models. A particular focus will be on Rspo1 and its crucial function in sex determination.


  

Author Contacts

Marie Christine Chaboissier
Université de Nice-Sophia Antipolis
Laboratoire de Génétique du Développement Normal et Pathologique
F–06108 Nice (France)
Tel. +33 49207 6451, Fax +33 49207 6402, E-Mail chaboiss@unice.fr

  

Article Information

Received: May 05, 2008
Accepted: June 25, 2008
Published online: November 05, 2008
Number of Print Pages : 9
Number of Figures : 4, Number of Tables : 1, Number of References : 55

  

Publication Details

Sexual Development (Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation)

Vol. 2, No. 4-5, Year 2008 (Cover Date: November 2008)

Journal Editor: Schmid M. (Würzburg), Scherer G. (Freiburg), Schartl M. (Würzburg)
ISSN: 1661–5425 (Print), eISSN: 1661–5433 (Online)

For additional information: http://www.karger.com/SXD


Article / Publication Details

First-Page Preview
Abstract of Review Article

Received: 5/5/2008
Accepted: 6/25/2008
Published online: 11/5/2008

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 1

ISSN: 1661-5425 (Print)
eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD


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