SF-1

Summary

Gene Symbol: SF-1
Description: nuclear receptor subfamily 5 group A member 1
Alias: AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1, steroidogenic factor 1, STF-1, adrenal 4 binding protein, fushi tarazu factor homolog 1, nuclear receptor AdBP4, steroid hormone receptor Ad4BP, steroidogenic factor 1 nuclear receptor, steroidogenic factor-1
Species: human
Products:     SF-1

Top Publications

  1. Tremblay J, Viger R. 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. 2003;278:42637-42 pubmed
    b>Steroidogenic factor 1 (SF-1) is a transcription factor belonging to the nuclear receptor superfamily. SF-1 regulates the expression of many genes involved in reproduction, steroidogenesis, and sexual differentiation...
  2. Figueiredo B, Cavalli L, Pianovski M, Lalli E, Sandrini R, Ribeiro R, et al. Amplification of the steroidogenic factor 1 gene in childhood adrenocortical tumors. J Clin Endocrinol Metab. 2005;90:615-9 pubmed
    ..To follow up on these results, we examined whether the steroidogenic factor 1 (SF-1) gene, which is located in this chromosomal region and plays an important role in the development ..
  3. Ito M, Park Y, Weck J, Mayo K, Jameson J. Synergistic activation of the inhibin alpha-promoter by steroidogenic factor-1 and cyclic adenosine 3',5'-monophosphate. Mol Endocrinol. 2000;14:66-81 pubmed
    ..We propose a model in which direct interactions of SF-1, CREB, and associated coactivators like CBP induce strongly cooperative transactivation by pathways that individually have relatively weak effects on transcription. ..
  4. Parker K, Schimmer B. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev. 1997;18:361-77 pubmed
  5. Crawford P, Polish J, Ganpule G, Sadovsky Y. The activation function-2 hexamer of steroidogenic factor-1 is required, but not sufficient for potentiation by SRC-1. Mol Endocrinol. 1997;11:1626-35 pubmed
    The orphan receptor steroidogenic factor 1 (SF-1) plays a central role in development and differentiation of the adrenal gland and gonads...
  6. Fan W, Yanase T, Wu Y, Kawate H, Saitoh M, Oba K, et al. Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcript. Mol Endocrinol. 2004;18:127-41 pubmed
    The mechanism through which protein kinase A (PKA) potentiates the transactivation ability of adrenal 4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) is currently unclear...
  7. Shen W, Moore C, Ikeda Y, Parker K, Ingraham H. Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade. Cell. 1994;77:651-61 pubmed
    ..In primary Sertoli cells, the orphan nuclear receptor, steroidogenic factor 1 (SF-1), regulates the MIS gene by binding to a conserved upstream regulatory element...
  8. Jameson J. Of mice and men: The tale of steroidogenic factor-1. J Clin Endocrinol Metab. 2004;89:5927-9 pubmed
  9. Patel M, McKay I, Burrin J. Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin. J Invest Dermatol. 2001;117:1559-65 pubmed
    ..Further studies are needed to determine the functional roles of DAX-1 and SF-1 in human skin. ..

More Information

Publications62

  1. Tantawy S, Lin L, Akkurt I, Borck G, Klingmuller D, Hauffa B, et al. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Eur J Endocrinol. 2012;167:125-30 pubmed publisher
    b>Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD)...
  2. Almeida M, Soares I, Ribeiro T, Fragoso M, Marins L, Wakamatsu A, et al. Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults. J Clin Endocrinol Metab. 2010;95:1458-62 pubmed publisher
    b>Steroidogenic factor 1 (SF-1) is a key determinant of endocrine development and function of adrenal cortex. SF-1 overexpression and gene amplification were previously demonstrated in a small group of pediatric adrenocortical tumors...
  3. Kohler 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. 2008;29:59-64 pubmed
    b>Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis...
  4. Taketo M, Parker K, Howard T, Tsukiyama T, Wong M, Niwa O, et al. Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33. Genomics. 1995;25:565-7 pubmed
    ..We have mapped the mouse gene Ftzf1 to the proximal quarter of Chr 2 by a linkage analysis using interspecific backcross mice, and its human homolog ..
  5. Hoivik E, Aumo L, Aesoy R, Lillefosse H, Lewis A, Perrett R, et al. Deoxyribonucleic acid methylation controls cell type-specific expression of steroidogenic factor 1. Endocrinology. 2008;149:5599-609 pubmed publisher
    b>Steroidogenic factor 1 (SF1) is expressed in a time- and cell-specific manner in the endocrine system...
  6. Coutant R, Mallet D, Lahlou N, Bouhours Nouet N, Guichet A, Coupris L, et al. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome. J Clin Endocrinol Metab. 2007;92:2868-73 pubmed
    ..In humans, mutations in steroidogenic factor-1 (SF-1), one of the critical factors involved in testis development, have been reported to cause gonadal dysgenesis with or without adrenal failure in 46,XY individuals...
  7. de Souza B, Lin L, Achermann J. Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology. Pediatr Endocrinol Rev. 2006;3:359-64 pubmed
    ..the role of this transcription factor since its initial cloning in 1992, largely due to the creation of an Sf-1 (FtzF1) knockout mouse model, in vitro studies of nuclear receptor function and, more recently, following identification ..
  8. Urs A, Dammer E, Sewer M. Sphingosine regulates the transcription of CYP17 by binding to steroidogenic factor-1. Endocrinology. 2006;147:5249-58 pubmed
    Steroidogenic factor (SF1, Ad4BP, NR5A1) is a nuclear receptor that is essential for steroid hormone biosynthesis and endocrine development. Recent crystallographic studies have found that phospholipids are ligands for SF1...
  9. Krylova I, Sablin E, Moore J, Xu R, Waitt G, MacKay J, et al. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. Cell. 2005;120:343-55 pubmed
    Vertebrate members of the nuclear receptor NR5A subfamily, which includes steroidogenic factor 1 (SF-1) and liver receptor homolog 1 (LRH-1), regulate crucial aspects of development, endocrine homeostasis, and metabolism...
  10. Achermann J, Ito M, Hindmarsh P, Jameson J. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet. 1999;22:125-6 pubmed
  11. Sbiera S, Schmull S, Assie G, Voelker H, Kraus L, Beyer M, et al. High diagnostic and prognostic value of steroidogenic factor-1 expression in adrenal tumors. J Clin Endocrinol Metab. 2010;95:E161-71 pubmed publisher
  12. Soardi F, Coeli F, Maciel Guerra A, Guerra Junior G, Mello M. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. J Appl Genet. 2010;51:223-4 pubmed
    ..Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure...
  13. Gizard F, Lavallee B, DeWitte F, Teissier E, Staels B, Hum D. The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells. J Biol Chem. 2002;277:39144-55 pubmed
    ..Taken together the results in this study identify a novel function of TReP-132 as a partner in a complex with SF-1 and CBP/p300 to regulate gene transcription involved in steroidogenesis. ..
  14. Li L, Chiang E, Chen J, Hsu N, Chen Y, Chung B. Function of steroidogenic factor 1 domains in nuclear localization, transactivation, and interaction with transcription factor TFIIB and c-Jun. Mol Endocrinol. 1999;13:1588-98 pubmed
    Normal endocrine development and function require nuclear hormone receptor SF-1 (steroidogenic factor 1)...
  15. Biason Lauber A, Schoenle E. 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 pubmed
    b>Steroidogenic factor 1 (NR5A1/SF-1) plays an essential role in the development of the hypothalamic-pituitary-adrenal and hypothalamic-pituitary-gonadal axes, controlling expression of their many important genes...
  16. Bashamboo A, Ferraz de Souza B, Lourenço D, Lin L, Sebire N, Montjean D, et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet. 2010;87:505-12 pubmed publisher
    ..A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis, ..
  17. Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Leger J, et al. Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Hum Reprod. 2007;22:3255-61 pubmed
    BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction...
  18. Jacobs S, Coss D, McGillivray S, Mellon P. Nuclear factor Y and steroidogenic factor 1 physically and functionally interact to contribute to cell-specific expression of the mouse Follicle-stimulating hormone-beta gene. Mol Endocrinol. 2003;17:1470-83 pubmed
    ..This study is the first to demonstrate the presence of basal FSH beta protein in L beta T2 cells and to identify specific elements within the FSH beta promoter that contribute to basal and cell-specific expression of the gene. ..
  19. Mello M, França E, Fabbri H, Maciel Guerra A, Guerra Junior G. Multifunctional role of steroidogenic factor 1 and disorders of sex development. Arq Bras Endocrinol Metabol. 2011;55:607-12 pubmed
    ..One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1)...
  20. Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, Akkurt I, 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. 2009;161:237-42 pubmed publisher
    Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations ..
  21. Kimura R, Yoshii H, Nomura M, Kotomura N, Mukai T, Ishihara S, et al. Identification of novel first exons in Ad4BP/SF-1 (NR5A1) gene and their tissue- and species-specific usage. Biochem Biophys Res Commun. 2000;278:63-71 pubmed
    It has been demonstrated that the mammalian Ad4BP/SF-1 (NR5A1) gene is regulated precisely in sex, tissue, and developmental stage specific manners...
  22. Gurates B, Amsterdam A, Tamura M, Yang S, Zhou J, Fang Z, et al. WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells. Mol Cell Endocrinol. 2003;208:61-75 pubmed
    ..Given the characterized roles of these transcription factors in gonadal development and function, modulation of SF-1 action by WT1 and DAX-1 may represent an important key mechanism in steroidogenesis. ..
  23. Wada Y, Okada M, Hasegawa T, Ogata T. Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr J. 2005;52:445-8 pubmed
    ..The results suggest that the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of S-MP, and that M-MP can be regarded as a normal variation in terms of the polymorphism effect. ..
  24. Wang W, Zhang C, Marimuthu A, Krupka H, Tabrizizad M, Shelloe R, et al. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. Proc Natl Acad Sci U S A. 2005;102:7505-10 pubmed
    ..These results suggest that human SF-1 and LRH-1 may be ligand-binding receptors, although it remains to be seen if phospholipids or possibly other molecules regulate SF-1 or LRH-1 under physiological conditions. ..
  25. Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, et al. Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9. Mol Endocrinol. 2004;18:2451-62 pubmed
    An orphan nuclear receptor, Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1), is essential for the development and function of steroidogenic tissues...
  26. Ferraz de Souza B, Lin L, Achermann J. Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol. 2011;336:198-205 pubmed publisher
    Steroidogenic factor-1 (SF-1, Ad4BP, encoded by NR5A1) is a key regulator of adrenal and reproductive development and function...
  27. Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009;360:1200-10 pubmed publisher
    ..A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis...
  28. Doghman M, Karpova T, Rodrigues G, Arhatte M, De Moura J, Cavalli L, et al. Increased steroidogenic factor-1 dosage triggers adrenocortical cell proliferation and cancer. Mol Endocrinol. 2007;21:2968-87 pubmed
    Steroidogenic factor-1 (SF-1/Ad4BP; NR5A1), a nuclear receptor transcription factor, has a pivotal role in adrenal and gonadal development in humans and mice...
  29. Achermann J, Ozisik G, Ito M, Orun U, Harmanci K, Gurakan B, 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 pubmed
    ..In addition, these patients reveal the exquisite sensitivity of SF-1-dependent developmental pathways to gene dosage and function in humans. ..
  30. Allali S, Muller J, Brauner R, Lourenco D, Boudjenah R, Karageorgou V, 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. 2011;6:e24117 pubmed publisher
    ..Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias...
  31. de Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, et al. Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol Cell Biol. 1998;18:6653-65 pubmed
    ..A DNA-binding element for the steroidogenic factor 1 (SF-1), a member of the orphan nuclear receptor family, located in the AMH proximal promoter has recently ..
  32. WuQiang F, Yanase T, Wei L, Oba K, Nomura M, Okabe T, et al. Functional characterization of a new human Ad4BP/SF-1 variation, G146A. Biochem Biophys Res Commun. 2003;311:987-94 pubmed
    b>Ad4BP/SF-1 plays key roles at all levels of the hypothalamic-pituitary-steroidogenic organ axis and its functional disruption causes endocrine disorders of these organs...
  33. Hammer G, Krylova I, Zhang Y, Darimont B, Simpson K, Weigel N, 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 pubmed
    b>Steroidogenic factor 1 (SF-1) is an orphan nuclear receptor that serves as an essential regulator of many hormone-induced genes in the vertebrate endocrine system...
  34. Ehrlund A, Anthonisen E, Gustafsson N, Venteclef N, Robertson Remen K, Damdimopoulos A, et al. E3 ubiquitin ligase RNF31 cooperates with DAX-1 in transcriptional repression of steroidogenesis. Mol Cell Biol. 2009;29:2230-42 pubmed publisher
    ..Instead, it has acquired the capability to act as a transcriptional corepressor of steroidogenic factor 1 (SF-1)...
  35. Warman D, Costanzo M, Marino R, Berensztein E, Galeano J, Ramirez P, et al. Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects. Horm Res Paediatr. 2011;75:70-7 pubmed publisher
    ..Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described...
  36. Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances A, 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. 2010;8:28 pubmed publisher
    ..Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence.
  37. Utsunomiya H, Cheng Y, Lin Z, Reierstad S, Yin P, Attar E, et al. Upstream stimulatory factor-2 regulates steroidogenic factor-1 expression in endometriosis. Mol Endocrinol. 2008;22:904-14 pubmed publisher
    ..Taken together, the elevated levels of USF2 in endometriosis account for, in part, the aberrant expression of SF-1 and its target gene StAR and aromatase. ..
  38. Barbaro M, Cools M, Looijenga L, Drop S, Wedell A. Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. Sex Dev. 2011;5:181-7 pubmed publisher
    b>Steroidogenic factor 1 (SF1, officially NR5A1) is a nuclear receptor involved in adrenal and gonadal development...
  39. Adamovic T, Chen Y, Thai H, Zhang X, Markljung E, Zhao S, et al. The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. Sex Dev. 2012;6:292-7 pubmed publisher
    ..In conclusion, the SF-1 gene may not play a significant role in the development of hypospadias in Caucasians. ..
  40. Camats N, Pandey A, Fernandez Cancio M, Andaluz P, Janner M, Toran N, et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012;97:E1294-306 pubmed publisher
    ..Genotype-structure-function-phenotype correlation remains elusive. ..
  41. Ogawa H, Komatsu T, Hiraoka Y, Morohashi K. Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1. Mol Biol Cell. 2009;20:4235-45 pubmed publisher
    ..protein 4, a Rad54 family member and a SNF2 chromatin remodeling factor), which interacts with sumoylated Ad4BP/SF-1 through two SUMO-interacting motifs and one Ad4BP/SF-1-binding region...
  42. Ramayya M, Sheng M, Moroz K, Hill S, Rowan B. Human steroidogenic factor-1 (hSF-1) regulates progesterone biosynthesis and growth of ovarian surface epithelial cancer cells. J Steroid Biochem Mol Biol. 2010;119:14-25 pubmed publisher
    ..These findings are consistent with the hypothesis, that down-regulation of hSF-1 contributes to progression of ovarian epithelial cancers. ..
  43. Lin B, Suzawa M, Blind R, Tobias S, Bulun S, Scanlan T, et al. Stimulating the GPR30 estrogen receptor with a novel tamoxifen analogue activates SF-1 and promotes endometrial cell proliferation. Cancer Res. 2009;69:5415-23 pubmed publisher
  44. Mallet D, Bretones P, Michel 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 SF1 haploinsufficiency. J Clin Endocrinol Metab. 2004;89:4829-32 pubmed
    Targeted disruption of the orphan nuclear receptor SF1 results in the absence of adrenals and gonads, establishing that this transcription factor is implicated in gonadal determination and adrenal development...
  45. Hasegawa T, Fukami M, Sato N, Katsumata N, Sasaki G, Fukutani K, 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 pubmed
    ..The results suggest that SF-1 haploinsufficiency can selectively impair testicular development and permit the biosynthesis of AMH and testosterone in dysgenetic testes and the production of gonadotropins in pituitary gonadotropes. ..
  46. Xue Q, Lin Z, Yin P, Milad M, Cheng Y, Confino E, et al. Transcriptional activation of steroidogenic factor-1 by hypomethylation of the 5' CpG island in endometriosis. J Clin Endocrinol Metab. 2007;92:3261-7 pubmed
    ..This is the first demonstration of methylation-dependent regulation of SF-1 in any mammalian tissue. These findings point to a new mechanism for targeting local estrogen biosynthesis in endometriosis. ..
  47. 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. 2006;85:787-90 pubmed
    ..The results suggest that the Gly146Ala polymorphism may be a susceptibility factor for the development of cryptorchidism (CO)...
  48. Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez P, et al. Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. Horm Res Paediatr. 2012;78:119-26 pubmed
    In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals...
  49. Lin L, Gu W, Ozisik G, To W, Owen C, Jameson J, et al. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab. 2006;91:3048-54 pubmed
    ..The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) play an important role in adrenal development and function, and mutations in these transcription factors ..
  50. Ferraz de Souza B, Martin F, Mallet D, Hudson Davies R, Cogram P, Lin L, et al. CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. J Clin Endocrinol Metab. 2009;94:678-83 pubmed publisher
    ..The positive interaction between DAX1 and SF-1 in regulating PBX1 may be an important mechanism in this process. ..
  51. Derebecka Holysz N, Lehmann T, Holysz M, Trzeciak W. SMAD3 inhibits SF-1-dependent activation of the CYP17 promoter in H295R cells. Mol Cell Biochem. 2008;307:65-71 pubmed
    ..In conclusion, our results suggest that the inhibitory action of TGF-beta on CYP17 transcription involve at least two mechanisms: SMAD3 dependent inactivation of CYP17 promoter activity and repression of SF-1 expression. ..
  52. Sadovsky Y, Crawford P, Woodson K, Polish J, Clements M, Tourtellotte L, et al. 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. 1995;92:10939-43 pubmed
    The orphan nuclear receptor steroidogenic factor 1 (SF-1) is expressed in the adrenal cortex and gonads and regulates the expression of several P450 steroid hydroxylases in vitro...
  53. Philibert P, Paris F, Lakhal B, Audran F, Gaspari L, Saad A, et al. NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency. Fertil Steril. 2013;99:484-9 pubmed publisher
    ..Gly146Ala variant in this cohort compared with the ancestry-matched control subjects. This work highlights the important role of SF-1 in ovarian function. ..