The role of SF1/DAX1 in adrenal and reproductive function

Annales d'Endocrinologie

Volumn 66, Issue 3, 2005, Pages 233-239

  Achermann, J C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR RECEPTOR DAX 1; STEROIDOGENIC FACTOR 1;

ADRENAL FUNCTION; CONFERENCE PAPER; ENDOCRINE SYSTEM; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOPLASIA; NONHUMAN; PHENOTYPE; POSTNATAL DEVELOPMENT; PROTEIN EXPRESSION; PROTEIN STRUCTURE; REPRODUCTION; SEQUENCE HOMOLOGY; X CHROMOSOME LINKAGE;

EID: 18944405328     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-4266(05)81755-X     Document Type: Conference Paper

References (37)

1. Achermann JC, Ito M, 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 1999 ; 22 : 125-6.
2. Achermann JC, Meeks JJ, Jameson JL. Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 2001 ; 185 : 17-25.
3. Achermann JC, Ito M, Silverman BL, et al. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. J Clin Endocrinol Metab 2001 ; 86 : 3171-5.
4. Achermann JC, Ozisik G, Ito M, 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 2002 ; 87 : 1829-33.
5. Bardoni B, Zanaria E, Guioli S, et al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994 ; 7 : 497-501.
6. 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 2000 ; 67 : 1563-8.
7. Bland ML, Fowkes RC & Ingraham HA. Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function. Mol Endocrinol 2004 ; 18 : 941-52.
8. Brown P, Scobie GA, Townsend J, et al. Identification of a novel missense mutation that is as damaging to DAX-1 represser function as a nonsense mutation. J Clin Endocrinol Metab 2003 ; 88 : 1341-9.
9. Correa RV, Domenice S, Billerbeck et al. A microdeletion in the ligand binding domain of steroidogenic factor 1 causing XY sex reversal without adrenal insufficiency. J Clin Endocrinol Metab 2004 ; 89 : 1767-72.
10. De Figueiredo BC, Cavalli LR, Pianovska MAD, et al. Amplification of the steroidogenic factor 1 (SF-1) gene in childhood adrenocortical tumors. J Clin Endocrinol Metab 2005 ; 90 : 615-9.
11. Desclozeaux M, Krylova IN, Horn F, Fletterick RJ, & Ingraham HA. Phosphorylation and intramolecular stabilization of the ligand binding domain in the nuclear receptor steroidogenic factor 1. Mol Cell Biol 2002 ; 22 : 7193-203.
12. Hammer GD, Krylova I, Zhang Y, et al. Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress. Mol Cell 1999 ; 3 : 521-6.
13. Hasegawa T, Fukamu M, Sato N, 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 2004 ; 89 : 5930-5.
14. Ito M, Achermann JC & Jameson JL. A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes. J Biol Chem 2000 ; 275 : 31708-14.
15. Jeffs B, Meeks JJ, Ito M, et al. Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice. Endocrinology 2001 ; 142 : 4486-95.
16. Lalli E, & Sassone-Corsi P. DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol 2003 ; 17 : 1445-53.
17. Luo X, Ikeda Y, & Parker KL. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994 ; 77 : 481-90.
18. Majdic G, Young M, Gomez-Sanchez E, et al. Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity. Endocrinology 2002 ; 143 : 607-14.
19. Mallet D, Bretones P, Micehl-Calemard L, Dijoud F, David M & Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46,XY patient heterozygous for the nonsense C16X mutation: a case of SF-1 haploinsufficiency. J Clin Endocrinol Metab 2004 ; 89 : 4829-32.
20. Mantovani G, Ozisik G, Achermann JC, et al. Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2002 ; 87 : 44-8.
21. Meeks JJ, Crawford SE, Russell TA, Morohashi K, Weiss J & Jameson JL. Dax1 regulates testis cord organization during gonadal differentiation. Development 2003 ; 130 : 1029-36.
22. Meeks JJ, Weiss J & Jameson JL. Dax1 is required for testis determination. Nat Genet 2003 ; 34 : 32-3.
23. Muscatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994 ; 372 : 672-6.
24. Ozisik G, Mantovani G, Achermann JC, et al. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2003 ; 88 : 417-23.
25. Ozisik G, Achermann JC, Meeks JJ & Jameson JL. SF1 in the development of the adrenal gland and gonads. Horm Res 2003 ; 59 Suppl 1 : 94-8.
26. Parker KL & Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev 1997 ; 18 : 361-77.
27. Phelan JK & McCabe ER. Mutations in NR0B1 (DAX1) and NR5A (SF1) responsible for adrenal hypoplasia congenita. Hum Mutation 2001 ; 18 : 472-87.
28. Reutens AT, Achermann JC, Ito M, et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1998 ; 84 : 504-11.
29. Sablin EP, Krylova IN, Fletterick RJ, & Ingraham HA. Structural basis for ligand-independent activation of the orphan nuclear receptor LRH-1. Mol Cell 2003 ; 11 : 1575-85.
30. Seminara SB, Achermann JC, Genel M, Jameson JL & Crowley WF Jr. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999 ; 84 : 4501-9.
31. Sikl H. Addison's disease due to congenital hypoplasia of the adrenals in an infant aged 33 days. J Pathol Bacteriol 1948 ; 60 : 323-4.
32. Tabarin A, Achermann JC, Recan D, et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 2001 ; 105 : 321-8.
33. Tremblay JJ & Viger RS. A mutated form of steroidogenic factor-1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4. J Biol Chem 2004 ; 278 : 42637-42.
34. Wang ZJ, Jeffs B, Ito M, et al. Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. Proc Natl Acad Sci USA 2001 ; 98 : 7988-93.
35. Wong M, Ramayya MS, Chrousos GP, Driggers PH, & Parker KL. Cloning and sequence analysis of the human gene encoding steroidogenic factor 1. J Mol Endocrinol 1996 ; 17 : 139-47.
36. Yu RN, Ito M, Saunders TL, Camper SA & Jameson JL. Role of Ahch in gonadal development and gametogenesis. Nat Genet 1998 ; 20 : 353-7.
37. Zanaria E, Muscatelli F, Bardoni B, et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994 ; 372 : 635-41.