Recombinant Human Steroidogenic factor 1 (NR5A1), partial

1. The findings stress the importance of G35 residue for adrenal development. The current observation also suggests that some patients with SF1 deficiency may present with transient adrenal failure. PMID: 29151085
2. none of the NR5A1 mutations reported to be associated with male infertility were found in our study, except one polymorphism, rs1110061. However, it was not significantly different between infertile and fertile groups. In addition, we have identified six intronic variants; but none of them was significantly associated with male infertility. PMID: 29265478
3. In vitro functional analyses demonstrate impaired transactivation by NR5A1 mutations found in patients with 46,XY disorders of sex development. PMID: 29027717
4. This study adds nine novel pathogenic NR5A1 variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 function and the additional factors that contribute. PMID: 29027299
5. rete ovarii were positive for PAX-8, weakly positive for SF-1, and negative for PAX-2 and GATA-3 PMID: 26352548
6. SF1 was the only specific marker of uterine tumour resembling ovarian sex cord-stromal tumour PMID: 27311867
7. this study identified a novel regulatory circuit for ovarian AMH production; specifically, through the coordinated interplay between FOXL2 and SF-1 that could control ovarian follicle development. PMID: 27414805
8. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia. PMID: 28032338
9. Results identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients with 46,XX (ovo)testicular disorders of sex development (DSD). Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. This study proposes NR5A1 as a novel gene for 46,XX (ovo)testicular DSD. PMID: 27490115
10. The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females. PMID: 27610946
11. Manipulating steroidogenic factor-1 (SF-1) and nucleotide exchange factor VAV-2 (VAV2) abundance in cultured adrenocortical carcinoma (ACC) cells indicate that VAV2 was a critical factor for SF-1-induced cytoskeletal remodeling and invasion in culture and in vivo (chicken chorioallantoic membrane) models. PMID: 28270555
12. Ten novel heterozygous NR5A1 mutations were identified in 46,XY DSD patients, including five nonsynonymous variants (p.Gly26Glu, p.Thr29Arg, p.Trp302Cys, p.Ala340Val, p.Leu358Pro), four stop-gain variants (p.Tyr211*, p.Cys247*, p.Tyr404*, p.Cys412*), and one frameshift variant (p.Glu395del) PMID: 28033660
13. we show that a specific recurrent heterozygous missense mutation (p.Arg92Trp) in the accessory DNA-binding region of NR5A1 is associated with variable degree of testis development in 46,XX children and adults from four unrelated families PMID: 27378692
14. we review genetic data generated through large-scale sequencing approaches that are changing our view of how this system works, including the recently described recurrent NR5A1 p.R92W mutation associated with testis development in 46,XX children PMID: 27893151
15. The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY Disorder of Sex Development, most likely contributes to the ovotesticular Disorder of Sex Development in this case. PMID: 27855412
16. Data suggest that the first screening step diagnosis for pituitary adenoma was determined based upon immunohistochemical (IHC) scores for Pit-1, SF-1, and ACTH. PMID: 27227698
17. We analysed a Pakistani cohort of patients with 46,XY disorders of sex development (DSD), presenting with variable degrees of gonadal dysgenesis, for NR5A1 mutations. The study identified three mutations (p.Tyr03X, p.Glu07X and p.Gln299HisfsX386), of which two are novel, in these patients with 46,XY DSD. PMID: 26260161
18. this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method. PMID: 26406169
19. SF1 SNPs are associated with serum uric acid levels in Chinese males and females. PMID: 25283508
20. Describe microcystic stromal tumor as a distinctive ovarian sex cord-stromal neoplasm characterized by FOXL2, SF-1, WT-1, Cyclin D1, and beta-catenin nuclear expression and CTNNB1 mutations. PMID: 26200099
21. these results demonstrate that ASAH1 is a novel coregulatory protein that represses SF-1 function by directly binding to the receptor on SF-1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription. PMID: 22927646
22. SF-1 expression was inhibited by miR23a/b overexpression in eutopic endometrial stromal cells(ESCs) and upregulated by miR23a/b inhibition in normal ESCs. PMID: 23450049
23. Although the ventromedial nucleus of the hypothalamus shares a common lineage, it further differentiates into a neuronal cluster devoid of steroidogenic factor (SF)-1. PMID: 22987798
24. No nuclear SF-1 expression was identified in any of the 127 germ cell tumors PMID: 23165333
25. Aberrant SF-1 expression was significantly higher in ovarian sex cord stromal tumors than that of ovarian cancer. PMID: 25604140
26. DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis. PMID: 25985323
27. genetic defects of NR5A1 should be considered as an etiology in subjects with 46,XY DSD without adrenal insufficiency. PMID: 26139438
28. In vitro, SF-1 mutations affect not only steroidogenesis but also transcription of BDNF which is involved in energy balance PMID: 25122490
29. a pair of male siblings with hypospadias and their father carrying a novel heterozygous mutation c.910G>A, p.E304K in NR5A1 gene; asymptomatic father, preserved fertility, also carried p.E304K; findings revealed that mutation retained partial activity which may result in asymptomatic 46,XY male phenotype with preserved fertility PMID: 25502990
30. mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary. PMID: 24750329
31. We confirmed that the variant disrupts the SF1 protein and its ability to bind and regulate downstream genes. NR5A1 has key roles at multiple points in gonad development and steroidogenic pathways. PMID: 25099250
32. Mutations in NR5A1 were associated with male factor infertility, especially when associated with history of cryptorchidism. PMID: 25989977
33. analysis of how signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1 PMID: 25288771
34. we report an Iranian family with a history of both azoospermia and premature ovarian insufficiency with the same heterozygote mutation in the NR5A1 gene that can be transmitted. PMID: 24067197
35. NR5A1 gene mutations are a relatively frequent cause of 46,XY disorders of sex development in humans. PMID: 24434652
36. Data suggest levels of steroidogenic factor 1/AD4BP/NR5A1 in subcapsular zone of adrenal glands (zona glomerulosa) are not different in subjects with primary aldosteronism, with aldosterone-producing adrenocortical adenomas, or normal subjects. PMID: 24531914
37. MiR-320 regulates the expression and functions of E2F1 and SF-1 in Polycystic Ovary Syndrome patients. PMID: 24828505
38. A strong correlation is identified between steroidogenic factor 1 expression in endometrial cells and association with intron 1. PMID: 23899549
39. genetic association study in population of boys in China: Data suggest mutations in SRD5A2 [steroid-5a-reductase, alpha peptide 2] (and possibly SF1/NR5A1 [steroidogenic factor 1]; probably not AR [androgen receptor]) are associated with hypospadias. PMID: 23729601
40. C/EBPbeta is an important mediator of progesterone production by working together with SF-1, especially under tropic hormone-stimulated conditions PMID: 24635384
41. data provide evidence that SF-1 is required for spleen development in humans via transactivation of TLX1 and that mutations that only impair steroidogenesis, without altering the SF1/SRY transactivation of SOX9, can lead to 46,XY-DSD. PMID: 24905461
42. genetic association studies in population in Egypt: Data suggest that mutations or single nucleotide polymorphisms in NR5A1 can result in 46,XY disorders of sex development; in this study, 17 patients (34%) harbored p.Gly146Ala polymorphism. PMID: 24591553
43. This result indicates that SALL4 and SF-1 could be used to distinguish Granulosa cell and yolk sac tumors PMID: 22832114
44. This case is the first report of a familial NR5A1 CNV transmitting in a pedigree, causing both the male and female phenotypes associated with NR5A1 mutations, and the first report of a NR5A1 CNV associated with POF. PMID: 23918653
45. a reduced number of thin seminiferous tubules and focal aggregations of Leydig cells that contained cytoplasmic lipid droplets were found in 6 patients had NR5A1 mutations PMID: 23969951
46. Mutations altering SF1 protein function and causing spermatogenic failure are also found in men of German origin with severe oligozoospermia. PMID: 23299922
47. novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels PMID: 24405868
48. The SF1 and SREBP1 activate DGKtheta; transcription in a cAMP-dependent manner in human adrenocortical cells. PMID: 23610160
49. Data indicate that fallopian tube and the epithelial component of Brenner tumours (BTs) expressed AKR1C3 and androgen receptor, but the tumour stromal cells showed strong expression of calretinin, inhibin and steroidogenic factor 1 in the majority of BTs. PMID: 24012099
50. These data also present novel molecular mechanisms that may explain the loss of SF1 protein in ovarian tumors, and its potential role in ovarian carcinogenesis. PMID: 23291911

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HGNC: 7983

OMIM: 184757

KEGG: hsa:2516

STRING: 9606.ENSP00000362690

UniGene: Hs.495108