1. Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome) 
Pascal Philibert, Pharm.D., Ph.D., Anna Biason-Lauber, M.D., Ph.D., Iva Gueorguieva, M.D., Chantal Stuckens, M.D., Catherine Pienkowski, M.D., Ph.D., Béatrice Lebon-Labich, M.D., Françoise Paris, M.D., Ph.D., Charles Sultan, M.D., Ph.D. 
Fertility and Sterility 
Volume 95, Issue 8, Pages (June 2011)
DOI: /j.fertnstert
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2. Figure 1
(A) β-Catenin stabilization was impaired in OVCAR3 cells expressing the mutated WNT4. The decreased amounts of β-catenin in cells transfected with the mutant alone or in combination with an increasing amount of wild-type protein (1:1, 1:2, 1:3) suggested that the WNT-signaling pathway was weakened and that the WNT4 mutant had a dominant negative effect (analysis of variance: P<.0171). The single data sets were singularly compared (t test). ∗∗P<.005. (B) The p.A233T-mutated WNT4 only partially represses steroidogenic enzymes in the ovarian adenocarcinoma cell line (OVCAR3). Reverse-transcription polymerase chain reaction quantification of the expression of the steroidogenic enzymes 17α-hydroxylase (CYP17A1) and 3β-hydroxysteroid dehydrogenase 2 (HSD3B2) in the absence (–) or presence of transfection of normal (WT) and mutant (p.A233T) WNT4 cDNA and a 1:1 combination of the two. Results are expressed as the relative increase in transfected cells compared with untransfected cells and are normalized using glyceraldehyde-3-phosphatedehydrogenase (GAPDH) as internal control (number of experiments: 3). (C) Partial dysregulation of the secreted steroid by the WNT4 mutant. The p.A233T-mutant WNT4 failed to inhibit the action of CYP17A1, as shown by the increased DHEA and 17-hydroxyprogesterone (17OHP) levels in ovarian cells with 17-hydroxypregnenolone and progesterone as precursors, respectively. This mutant repressed HSD3B2 normally, as confirmed by the level of 17OHP and androstenedione with 17-hydroxypregnenolone as precursor and of androstenedione with DHEA as precursor. Levels of 17OHP, DHEA, and androstenedione were measured in the medium of ovarian adenocarcinoma cells in the presence or absence of transfection with mutant WNT4, wild-type WNT4, or an equimolar ratio of the two.
Fertility and Sterility  , DOI: ( /j.fertnstert )
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