The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in caucasians

Sexual Development

Volumn 6, Issue 6, 2012, Pages 292-297

  Adamovic, T ^a   Chen, Y ^a,c   Thai, H T T ^a   Zhang, X ^a,c   Markljung, E ^a   Zhao, S ^c   Nordenskjold A ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c SHANDONG UNIVERSITY   (China)

Author keywords

Hypospadias; Mutation analysis; NR5A1; SF 1; SNP

Indexed keywords

NR5A1 PROTEIN, HUMAN; STEROIDOGENIC FACTOR 1;

ARTICLE; CAUCASIAN; DNA SEQUENCE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HUMAN; HYPOSPADIAS; MALE; MISSENSE MUTATION; TWINS;

DISEASES IN TWINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPOSPADIAS; MALE; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; STEROIDOGENIC FACTOR 1;

EID: 84868689872     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000343782     Document Type: Review

References (30)

1. Achermann JC, Ito M, Hindmarsh PC, Jameson JL: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22: 125-126 (1999).
2. Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, et al: Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87: 1829-1833 (2002).
3. Allali S, Muller J, Brauner R, Lourenco D, Boudjenah R, et al: Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS ONE 6: 24117 (2011).
4. Biason-Lauber A, Schoenle EJ: 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: 1563-1568 (2000).
5. Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, et al: A microdeletion in the ligand binding domain of human steroidogenic factor-1 causes XY sex reversal without adrenal insufficiency. J Clin Endocrinol Metab 89: 1767-1772 (2004).
6. Coutant R, Mallet D, Lahlou N, Bouhours-Nout N, Guichet A, et al: Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. J Clin Endocrinol Metab 92: 2868-2873 (2007).
7. Ferraz-de-Souza B, Lin L, Achermann JC: Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol 336: 198- 205 (2011).
8. Fisch H, Hyun G, Hensle TW: Rising hypospadias rates: disproving a myth. J Pediatr Urol 6: 37-39 (2010).
9. Hasegawa T, Fukami M, Sato N, Katsumata N, Sasaki G, et al: Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J Clin Endocrinol Metab 89: 5930-5931 (2004).
10. Ikeda Y, Shen WH, Ingraham HA, Parker KL: Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases. Mol Endocrinol 8: 654-662 (1994).
11. Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, et al: Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat 29: 59-64 (2008).
12. Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, et al: The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Eur J Endocrinol 161: 237-242 (2009).
13. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T: Heterozygous missense mutations in steroidogenic factor 1 (SF1/ Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Endocrinol Metab 92: 991-999 (2007).
14. Liu B, Wang Z, Lin G, Agras K, Ebbers M, et al: Activating transcription factor 3 is up-regulated in patients with hypospadias. Pediatr Res 58: 1280-1283 (2005).
15. Liu W, Liu M, Fan W, Nawata H, Yanase T: The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese. Diabet Res Clin Pract 73: 322-328 (2006).
16. Luo X, Ikeda Y, Parker KL: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490 (1994).
17. Mallet D, Bretones P, Michel-Calemard L, Dijoud F, David M, et al: Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. J Clin Endocrinol Metab 89: 4829-4832 (2004).
18. Morohashi K, Honda S, Inomata Y, Handa H, Omura T: A common trans-acting factor, Ad4-binding protein, to the promotors of steroidogenic P-450s. J Biol Chem 267: 17913-17919 (1992).
19. Ogata T, Wada Y, Fukami M: MAMLD1 (CXorf6) : a new gene for hypospadias. Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. Sex Dev 2: 244-250 (2008).
20. Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, et al: Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol 19: 28 (2010).
21. Qiao L, Tasian GE, Zhang H, Cunha GR, Baskin L: ZEB1 is estrogen responsive in vitro in human foreskin cells and is overexpressed in penile skin in patients with severe hypospadias. J Urol 185: 1888-1893 (2011).
22. Reuter AL, Goji K, Bingham NC, Matsuo M, Parker KL: A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. Eur J Endocrinol 157: 233-238 (2007).
23. Sadovsky Y, Crawford PA, Woodson KG, Polish JA, Clements MA, et al: Mice deficient in the orphan receptor stereoidogenic 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 USA 92: 10939-10943 (1995).
24. Sambrook J, Fritsch E, Maniatis T: Isolation of high-molecular-weight DNA from mammalian cells, in Sambrook J, Russell DW (eds): Molecular Cloning, pp 14-23 (Cold Spring Harbour Lab Press, New York 1989).
25. Shinoda K, Lei H, Yoshii H, Nomura M, Nagano M, et al: Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice. Dev Dyn 204: 22-29 (1995).
26. Wada Y, Okada M, Hasegawa T, Ogata T: Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr J 52: 445-448 (2005).
27. Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T: Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertil Steril 85: 787-790 (2006).
28. Wilhelm D, Koopman P: The makings of maleness: towards an integrated view of male sexual development. Nat Rev Genet 7: 620-631 (2006).
29. Wong M, Ramaya MS, Chrousos GP, Driggers PH, Parker KL: Cloning and sequence analysis of the human gene steroidogenic factor 1. J Mol Endocrinol 17: 139-147 (1996).
30. WuQiang F, Yanase T, Wei L, Oba K, Nomura M, et al: Functional characterization of a new human Ad4BP/SF-1 variation, G146A. Biochem Biophys Res Commun 311: 987-994 (2003).