Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

American Journal of Human Genetics

Volumn 87, Issue 4, 2010, Pages 505-512

  Bashamboo, Anu ^a   Ferraz De Souza, Bruno ^b   Loureno, Diana ^a   Lin, Lin ^b   Sebire, Neil J ^c   Montjean, Debbie ^a   Bignon Topalovic, Joelle ^a   Mandelbaum, Jacqueline ^d   Siffroi, Jean Pierre ^e   Christin Maitre, Sophie ^f   Radhakrishna, Uppala ^g   Rouba, Hassan ^h   Ravel, Celia ^a,d   Seeler, Jacob ^a   Achermann, John C ^b   McElreavey, Ken ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d HÔPITAL TENON   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f HÔPITAL SAINT ANTOINE   (France)

^g CREIGHTON UNIVERSITY   (United States)

^h Institut Pasteur du Maroc   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

STEROIDOGENIC FACTOR 1; NR5A1 PROTEIN, HUMAN;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; AZOOSPERMIA; CELL STRAIN HEK293; EMBRYONIC STEM CELL; GENE EXPRESSION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; KARYOTYPE 46,XY; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SITE DIRECTED MUTAGENESIS; SPERMATOGENESIS; SUMOYLATION; AMINO ACID SEQUENCE; DNA SEQUENCE; FRANCE; GENETICS; MOLECULAR GENETICS; TRANSCRIPTION INITIATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; FRANCE; HUMANS; INFERTILITY, MALE; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; SPERMATOGENESIS; STEROIDOGENIC FACTOR 1; TRANSCRIPTIONAL ACTIVATION;

EID: 77957752301     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.09.009     Document Type: Article

References (31)

1. N.E. Skakkebaek, N. Jørgensen, K.M. Main, E. Rajpert-De Meyts, H. Leffers, A.M. Andersson, A. Juul, E. Carlsen, G.K. Mortensen, T.K. Jensen, and J. Toppari Is human fecundity declining? Int. J. Androl. 29 2006 2 11
2. A. Nyboe Andersen, and K. Erb Register data on Assisted Reproductive Technology (ART) in Europe including a detailed description of ART in Denmark Int. J. Androl. 29 2006 12 16
3. N. Jørgensen, C. Asklund, E. Carlsen, and N.E. Skakkebaek Coordinated European investigations of semen quality: results from studies of Scandinavian young men is a matter of concern Int. J. Androl. 29 2006 54 61, discussion 105-108
4. J.H. Tuerlings, R.J. van Golde, A.R. Oudakker, H.G. Yntema, and J.A. Kremer Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression Fertil. Steril. 77 2002 415 418
5. J.M. Cantú, F. Rivas, P. Hernández-Jáuregui, M. Díaz, V. Cortés-Gallegos, G. Vaca, A. Velázquez, and B. Ibarra Meiotic arrest at first spermatocyte level: a new inherited infertility disorder Hum. Genet. 59 1981 380 385
6. J. Gianotten, G.H. Westerveld, N.J. Leschot, M.W. Tanck, R.J. Lilford, M.P. Lombardi, and F. van der Veen Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern Hum. Reprod. 19 2004 71 76
7. R.I. McLachlan, and M.K. O'Bryan Clinical Review#: State of the art for genetic testing of infertile men J. Clin. Endocrinol. Metab. 95 2010 1013 1024
8. K.L. O'Flynn O'Brien, A.C. Varghese, and A. Agarwal The genetic causes of male factor infertility: a review Fertil. Steril. 93 2010 1 12
9. K. Morohashi, S. Honda, Y. Inomata, H. Handa, and T. Omura A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s J. Biol. Chem. 267 1992 17913 17919
10. 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
11. I.N. Krylova, E.P. Sablin, J. Moore, R.X. Xu, G.M. Waitt, J.A. MacKay, D. Juzumiene, J.M. Bynum, K. Madauss, and V. Montana Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1 Cell 120 2005 343 355
12. E.A. Hoivik, A.E. Lewis, L. Aumo, and M. Bakke Molecular aspects of steroidogenic factor 1 (SF-1) Mol. Cell. Endocrinol. 315 2010 27 39
13. E.P. Sablin, R.D. Blind, I.N. Krylova, J.G. Ingraham, F. Cai, J.D. Williams, R.J. Fletterick, and H.A. Ingraham Structure of SF-1 bound by different phospholipids: evidence for regulatory ligands Mol. Endocrinol. 23 2009 25 34
14. 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
15. N.A. Hanley, S.G. Ball, M. Clement-Jones, D.M. Hagan, T. Strachan, S. Lindsay, S. Robson, H. Ostrer, K.L. Parker, and D.I. Wilson Expression of steroidogenic factor 1 and Wilms′ tumour 1 during early human gonadal development and sex determination Mech. Dev. 87 1999 175 180
16. K. Morohashi, H. Iida, M. Nomura, O. Hatano, S. Honda, T. Tsukiyama, O. Niwa, T. Hara, A. Takakusu, and Y. Shibata Functional difference between Ad4BP and ELP, and their distributions in steroidogenic tissues Mol. Endocrinol. 8 1994 643 653
17. L. Lin, and J.C. Achermann Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development Sex Dev. 2 2008 200 209
18. R. Sekido, and R. Lovell-Badge Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer Nature 453 2008 930 934
19. D. Loureno, R. Brauner, L. Lin, A. De Perdigo, G. Weryha, M. Muresan, R. Boudjenah, G. Guerra-Junior, A.T. Maciel-Guerra, and J.C. Achermann Mutations in NR5A1 associated with ovarian insufficiency N. Engl. J. Med. 360 2009 1200 1210
20. L. Lin, P. Philibert, B. Ferraz-de-Souza, D. Kelberman, T. Homfray, A. Albanese, V. Molini, N.J. Sebire, S. Einaudi, and G.S. Conway 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. M. Ito, J.C. Achermann, and J.L. Jameson A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes J. Biol. Chem. 275 2000 31708 31714
22. O. Kirsh, J.S. Seeler, A. Pichler, A. Gast, S. Müller, E. Miska, M. Mathieu, A. Harel-Bellan, T. Kouzarides, F. Melchior, and A. Dejean The SUMO E3 ligase RanBP2 promotes modification of the HDAC4 deacetylase EMBO J. 21 2002 2682 2691
23. C. Wohlfahrt-Veje, K.M. Main, and N.E. Skakkebaek Testicular dysgenesis syndrome: foetal origin of adult reproductive problems Clin. Endocrinol. (Oxf.) 71 2009 459 465
24. A.M. Andersson, N. Jørgensen, L. Frydelund-Larsen, E. Rajpert-De Meyts, and N.E. Skakkebaek Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls J. Clin. Endocrinol. Metab. 89 2004 3161 3167
25. P. Jeyasuria, Y. Ikeda, S.P. Jamin, L. Zhao, D.G. De Rooij, A.P. Themmen, R.R. Behringer, and K.L. Parker Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function Mol. Endocrinol. 18 2004 1610 1619
26. Y. Kojima, S. Sasaki, Y. Hayashi, Y. Umemoto, K. Morohashi, and K. Kohri Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia Int. J. Urol. 13 2006 785 793
27. L. Zhao, M. Bakke, Y. Krimkevich, L.J. Cushman, A.F. Parlow, S.A. Camper, and K.L. Parker Steroidogenic factor 1 (SF1) is essential for pituitary gonadotrope function Development 128 2001 147 154
28. G.D. Hammer, I. Krylova, Y. Zhang, B.D. Darimont, K. Simpson, N.L. Weigel, and H.A. Ingraham Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress Mol. Cell 3 1999 521 526
29. M.B. Lee, L.A. Lebedeva, M. Suzawa, S.A. Wadekar, M. Desclozeaux, and H.A. Ingraham The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification Mol. Cell. Biol. 25 2005 1879 1890
30. S.H. Mellon, S.R. Bair, C. Depoix, J.L. Vigne, N.B. Hecht, and P.B. Brake Translin coactivates steroidogenic factor-1-stimulated transcription Mol. Endocrinol. 21 2007 89 105
31. M. Suzawa, and H.A. Ingraham The herbicide atrazine activates endocrine gene networks via non-steroidal NR5A nuclear receptors in fish and mammalian cells PLoS ONE 3 2008 e2117