NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency

Fertility and Sterility

Volumn 99, Issue 2, 2013, Pages 484-489

  Philibert, Pascal ^a   Paris, Françoise ^a,b   Lakhal, Besma ^c   Audran, Françoise ^a   Gaspari, Laura ^a,b   Saâd, Ali ^c   Christin Maître, Sophie ^d   Bouchard, Philippe ^d   Sultan, Charles ^a,b,c  

^a LAPEYRONIE HOSPITAL   (France)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d HÔPITAL SAINT ANTOINE   (France)

Author keywords

NR5A1 SF 1 mutant; ovarian function; Primary ovarian insufficiency; sex differentiation

Indexed keywords

CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); STEROIDOGENIC FACTOR 1;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; OVARY INSUFFICIENCY; PREVALENCE; PRIORITY JOURNAL; SEX DIFFERENTIATION;

ADOLESCENT; ADULT; FEMALE; FRANCE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; PRIMARY OVARIAN INSUFFICIENCY; RISK FACTORS; STEROIDOGENIC FACTOR 1; YOUNG ADULT;

EID: 84873279263     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2012.10.026     Document Type: Article

References (42)

1. C.B. Coulam, S.C. Adamson, and J.F. Annegers Incidence of premature ovarian failure Obstet Gynecol 67 1986 604 606
2. W. Vegetti, A. Marozzi, E. Manfredini, G. Testa, F. Alagna, and A. Nicolosi Premature ovarian failure Mol Cell Endocrinol 161 2000 53 57
3. J.L. Luborsky, P. Meyer, M.F. Sowers, E.B. Gold, and N. Santoro Premature menopause in a multi-ethnic population study of the menopause transition Hum Reprod 18 2003 199 206
4. K. Aittomäki, J.L. Lucena, P. Pakarinen, P. Sistonen, J. Tapanainen, and J. Gromoll Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure Cell 82 1995 959 968
5. L. Crisponi The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Nat Genet 27 2001 159 166
6. E. Di Pasquale, P. Beck-Peccoz, and L. Persani Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene Am J Hum Genet 75 2004 106 111
7. S. Vujovic Aetiology of premature ovarian failure Menopause Int 15 2009 72 75
8. D. Goswami, and G.S. Conway Premature ovarian failure Hum Reprod Update 11 2005 391 410
9. K.L. Parker, and B.P. Schimmer Steroidogenic factor 1: a key determinant of endocrine development and function Endocr Rev 18 1997 361 377
10. K.L. Parker, D.A. Rice, D.S. Lala, Y. Ikeda, X. Luo, and M. Wong Steroidogenic factor 1: an essential mediator of endocrine development Recent Prog Horm Res 57 2002 19 36
11. X. Luo, Y. Ikeda, and K.L. Parker A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation Cell 77 1994 481 490
12. Y. Sadovsky, P.A. Crawford, K.G. Woodson, J.A. Polish, M.A. Clements, and L.M. Tourtellotte Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids Proc Natl Acad Sci U S A 92 1995 10939 10943
13. J.C. Achermann, M. Ito, M. Ito, P.C. Hindmarsh, and J.L. Jameson A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans Nat Genet 22 1999 125 126
14. P. Philibert, F. Paris, F. Audran, N. Kalfa, M. Polak, and E. Thibaud Phenotypic variation of SF1 gene mutations Adv Exp Med Biol 707 2011 67 72
15. B. Ferraz-de-Souza, L. Lin, and J.C. Achermann Steroidogenic factor-1 (SF-1, NR5A1) and human disease Mol Cell Endocrinol 336 2011 198 205
16. A. Biason-Lauber, and E.J. Schoenle Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency Am J Hum Genet 67 2000 1563 1568
17. D. Lourenço, R. Brauner, L. Lin, A. de Perdigo, G. Weryha, and M. Muresan Mutations in NR5A1 associated with ovarian insufficiency N Engl J Med 360 2009 1200 1210
18. F. Janse, L.M. de With, K.J. Duran, W.P. Kloosterman, A.J. Goverde, and C.B. Lambalk Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI) Fertil Steril 97 2012 141-6.e2
19. P. Philibert, D. Zenaty, L. Lin, S. Soskin, F. Audran, and J. Léger Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study Hum Reprod 22 2007 3255 3261
20. L. Lin, P. Philibert, B. Ferraz-de-Souza, D. Kelberman, T. Homfray, and A. Albanese Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46, XY disorders of sex development with normal adrenal function J Clin Endocrinol Metab 92 2007 991 999
21. P. Philibert, M. Polak, A. Colmenares, S. Lortat-Jacob, F. Audran, and F. Poulat Predominant Sertoli cell deficiency in a 46, XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father Fertil Steril 95 2011 1788.e5 1788.e9
22. A. Bashamboo, B. Ferraz-de-Souza, D. Lourenço, L. Lin, N.J. Sebire, and D. Montjean Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 Am J Hum Genet 87 2010 505 512
23. R. Coutant, D. Mallet, N. Lahlou, N. Bouhours-Nouet, A. Guichet, and L. Coupris Heterozygous mutation of steroidogenic factor-1 in 46, XY subjects may mimic partial androgen insensitivity syndrome J Clin Endocrinol Metab 92 2007 2868 2873
24. F. WuQiang, T. Yanase, L. Wei, K. Oba, M. Nomura, and T. Okabe Functional characterization of a new human Ad4BP/SF-1 variation, G146A Biochem Biophys Res Commun 31 2003 987 994
25. Y. Wada, M. Okada, T. Hasegawa, and T. Ogata Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1 Endocr J 52 2005 445 448
26. Y. Wada, M. Okada, M. Fukami, I. Sasagawa, and T. Ogata Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1 Fertil Steril 85 2006 787 790
27. M.W. Nachtigal, Y. Hirokawa, D.L. Enyeart-VanHouten, J.N. Flanagan, G.D. Hammer, and H.A. Ingraham Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression Cell 93 1998 445 454
28. C. Murayama, H. Miyazaki, A. Miyamoto, and T. Shimizu Involvement of Ad4BP/SF-1, DAX-1, and COUP-TFII transcription factor on steroid production and luteinization in ovarian theca cells Mol Cell Biochem 314 2008 51 58
29. Y. Sato, T. Suzuki, K. Hidaka, H. Sato, K. Ito, and S. Ito Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle J Clin Endocrinol Metab 88 2003 3415 3420
30. K. Kashimada, T. Svingen, C.-W. Feng, E. Pelosi, S. Bagheri-Fam, and V.R. Harley Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice FASEB J 25 2011 3561 3569
31. M. Park, E. Shin, M. Won, J.-H. Kim, H. Go, and H.-L. Kim FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells Mol Endocrinol 24 2010 1024 1036
32. D.-S. Wang, T. Kobayashi, L.-Y. Zhou, B. Paul-Prasanth, S. Ijiri, and F. Sakai 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 21 2007 712 725
33. K.I. Morohashi, and T. Omura Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function FASEB J 10 1996 1569 1577
34. H.A. Ingraham, D.S. Lala, Y. Ikeda, X. Luo, W.H. Shen, and M.W. Nachtigal The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis Genes Dev 8 1994 2302 2312
35. O. Hatano, A. Takakusu, M. Nomura, and K. Morohashi Identical origin of adrenal cortex and gonad revealed by expression profiles of Ad4BP/SF-1 Genes Cells 1 1996 663 671
36. Y. Ikeda, W.H. Shen, H.A. Ingraham, and K.L. Parker Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases Mol Endocrinol 8 1994 654 662
37. O. Hatano, K. Takayama, T. Imai, M.R. Waterman, A. Takakusu, and T. Omura Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development Development 120 1994 2787 2797
38. K. Takayama, H. Sasano, T. Fukaya, K. Morohashi, T. Suzuki, and M. Tamura Immunohistochemical localization of Ad4-binding protein with correlation to steroidogenic enzyme expression in cycling human ovaries and sex cord stromal tumors J Clin Endocrinol Metab 80 1995 2815 2821
39. C. Pelusi, Y. Ikeda, M. Zubair, and K.L. Parker Impaired follicle development and infertility in female mice lacking steroidogenic factor 1 in ovarian granulosa cells Biol Reprod 79 2008 1074 1083
40. P. Jeyasuria, Y. Ikeda, S.P. Jamin, L. Zhao, D.G. de Rooij, and A.P.N. Themmen Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function Mol Endocrinol 18 2004 1610 1619
41. U. Wehrenberg, R. Ivell, M. Jansen, S. von Goedecke, and N. Walther Two orphan receptors binding to a common site are involved in the regulation of the oxytocin gene in the bovine ovary Proc Natl Acad Sci USA 91 1994 1440 1444
42. M. Dajee, G.H. Fey, and J.S. Richards Stat 5b and the orphan nuclear receptors regulate expression of the alpha2-macroglobulin (alpha2M) gene in rat ovarian granulosa cells Mol Endocrinol 12 1998 1393 1409