Etienne Patin for comments on the manuscript. This work was funded by the Agence Nationale de la Recherche (Laboratoire d'Excellence Revive, Investissement d'Avenir, Accepted, 2017. ,
, The Human Protein Atlas
Gene mutations associated with anomalies of human gonad formation, Sex Dev, vol.7, pp.126-146, 2013. ,
A genomic atlas of human adrenal and gonad development, Wellcome Open Res, vol.2, p.25, 2017. ,
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development, Proc. Natl. Acad. Sci. USA, vol.90, pp.3368-3372, 1993. ,
Global disorders of sex development update since 2006: perceptions, approach and care, Global DSD Update Consortium, vol.85, pp.158-180, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01881545
A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb, Clin. Genet, vol.92, pp.347-349, 2017. ,
Identification of SOX3 as an XX male sex reversal gene in mice and humans, J. Clin. Invest, vol.121, pp.328-341, 2011. ,
Ovarian development and disease: The known and the unexpected, Semin. Cell Dev. Biol, vol.45, pp.59-67, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01255240
A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman, N. Engl. J. Med, vol.351, pp.792-798, 2004. ,
FOXL2 is a female sex-determining gene in the goat, Curr. Biol, vol.24, pp.404-408, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-02638689
The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2, Clin. Genet, vol.91, pp.173-182, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01498857
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation, Cell, vol.139, pp.1130-1142, 2009. ,
Choose your destiny: Make a cell fate decision with COUP-TFII, J. Steroid Biochem. Mol. Biol, vol.157, pp.7-12, 2016. ,
An ancient protein-DNA interaction underlying metazoan sex determination, Nat. Struct. Mol. Biol, vol.22, pp.442-451, 2015. ,
Analysis of protein-coding genetic variation in 60,706 humans, Nature, vol.536, pp.285-291, 2016. ,
Marker genes identify three somatic cell types in the fetal mouse ovary, Dev. Biol, vol.394, pp.242-252, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-01117482
, Proteomics. Tissuebased map of the human proteome. Science, vol.347, p.1260419, 2015.
The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development, Genes Dev, vol.13, pp.1037-1049, 1999. ,
COUP-TFII is essential for metanephric mesenchyme formation and kidney precursor cell survival, Development, vol.139, pp.2330-2339, 2012. ,
Proposed role for COUP-TFII in regulating fetal Leydig cell steroidogenesis, perturbation of which leads to masculinization disorders in rodents, PLoS ONE, vol.7, p.37064, 2012. ,
Endocardial cushion morphogenesis and coronary vessel development require chicken ovalbumin upstream promoter-transcription factor II, Arterioscler. Thromb. Vasc. Biol, vol.32, pp.135-146, 2012. ,
Rare variants in NR2F2 cause congenital heart defects in humans, Am. J. Hum. Genet, vol.94, pp.574-585, 2014. ,
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns, 2017. ,
, Genome Med, vol.9, p.95
De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia, Am. J. Med. Genet. A, vol.170, pp.2457-2461, 2016. ,
COUP-TFs and eye development, Biochim. Biophys. Acta, vol.1849, pp.201-209, 2015. ,
Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome, Hum. Reprod, vol.29, pp.1637-1650, 2014. ,
The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcription factor) via a composite nuclear receptorregulatory element, Mol. Endocrinol, vol.12, pp.1010-1022, 1998. ,
Haploinsufficiency of chicken ovalbumin upstream promoter transcription factor II in female reproduction, Mol. Endocrinol, vol.19, pp.2299-2308, 2005. ,
Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice, Science, vol.357, pp.717-720, 2017. ,
COUP-TFII regulates human endometrial stromal genes involved in inflammation, Mol. Endocrinol, vol.27, pp.2041-2054, 2013. ,
COUP-TFII is required for morphogenesis of the neural crest-derived tympanic ring, Sci. Rep, vol.7, p.12386, 2017. ,
Genetic disorders of nuclear receptors, J. Clin. Invest, vol.127, pp.1181-1192, 2017. ,
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Members of UDN, vol.25, pp.3446-3453, 2016. ,
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice, Biol. Sex Differ, vol.7, p.56, 2016. ,
A mathematical model for the estimation of human embryonic and fetal age, Cell Transplant, vol.5, pp.453-464, 1996. ,
Ex vivo culture of human fetal gonads: manipulation of meiosis signalling by retinoic acid treatment disrupts testis development. Hum. Reprod, vol.30, pp.2351-2363, 2015. ,
Germ cell differentiation in the marmoset (Callithrix jacchus) during fetal and neonatal life closely parallels that in the human, Hum. Reprod, vol.23, pp.2755-2765, 2008. ,