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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.
TCF21 modulates Steroidogenic factor-1 and estrogen receptor beta expression through the recruitment of USF2 in endometriotic stromal cells.
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.
In vitro functional analyses demonstrate impaired transactivation by NR5A1 mutations found in patients with 46,XY disorders of sex development.
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.
rete ovarii were positive for PAX-8, weakly positive for SF-1, and negative for PAX-2 and GATA-3
SF1 was the only specific marker of uterine tumour resembling ovarian sex cord-stromal tumour
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.
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.
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.
The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females.
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.
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)
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
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
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.
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.
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.
demonstrate aberrant expressions of SF-1 and LRH-1 in endometriotic granulosa-lutein cells
this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.
ChIP-sequence/ChIP studies indicated that Ad4BP/SF-1 binds to the upstream region of Ccne1 (cyclin E1) gene during G1/S phase.
Collectively, this evidence suggests that SF-1 expression in ventromedial hypothalamic nucleus neurons is required for the beneficial effects of exercise on metabolism.
Data suggest that Ad4BP plays role in regulation of intracellular NADPH concentration via transcription of Me1 and Mthfd2 genes in adrenocortical cells. (Ad4BP = nuclear receptor subfamily 5 group A member 1; Me1 = malic enzyme 1; Mthfd2 = bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase)
WT1 is required for the lineage specification of both Sertoli and granulosa cells by repressing Sf1 expression. Without Wt1, the expression of Sf1 was upregulated and the somatic cells differentiated into steroidogenic cells instead of supporting cells.
Our data suggested that lipid accumulation in the Leydig cells of the 46,XY disorders of sex development phenotype with a steroidogenic factor 1 mutation is due, at least in part, to the suppression of steroidogenic acute regulatory protein and CYP11A1, and a resulting increase in unmetabolized cholesterol.
SF-1 is needed for proper development of fetal and adult Leydig cells but with distinct primary functions
NR5A1 prevents centriole splitting by inhibiting centrosomal DNA-PK activation and beta-catenin accumulation
The results suggest that gonadal steroids do not influence the production of neurosteroids in the fetal brain, nor does SF-1 play a major role in the regulation of steroidogenic enzyme expression in the brain.
MiR-383 promoted the expression of miR-320 which regulated granulosa cell functions by targeting E2F1 and SF-1 proteins.
Data indicate that genetic ablation of the Vanin-1 (Vnn1) gene in SF-1 (NR5A1) transgenic mice significantly reduced the severity of neoplastic lesions in the adrenal cortex.
FOXL2 negatively regulates Sf1 expression by antagonizing WT1-KTS during early ovarian development in mice
we provide the evidence that the acidic residue (E199) located downstream from the core consensus SUMO site of NR5A1 is, at least in part, required for SUMOylation of NR5A1 and for its mediated target gene and protein expression.
Data suggest that the regulation of StAR by transcription factors including SF-1, GATA-4 and C/EBP-beta maybe critical mechanism involved in low-dose MBP-stimulated steroidogenesis.
Data indicate that reduced numbers of steroidogenic factor 1-positive (SF1(+)) progenitor cells and increased fetal Leydig cells (FLCs), and increased hedgehog (Hh) activation led to decreased adult Leydig cells (ALCs) populations.
GATA6 regulates the differentiation of steroidogenic (SF-1 expressing) progenitors into adrenocortical cells.
SF-1 depletion induces centrosome overduplication by activating centrosomal CDK2/cyclin A.
Pin1 is required for the Ser203 phosphorylation-dependent ubiquitination of SF-1, which facilitates SF-1-Pitx1 interactions and therefore results in an enhancement of SF-1 transcriptional activity
These data support a model in ovary development whereby activation of beta-catenin prevents Sf1 binding to the Sox9 enhancer, thereby inhibiting Sox9 expression and Sertoli cell differentiation.
data suggest a novel role for SF1 in promoting ovarian development in addition to its roles in testis differentiation
SF-1 is essential for TGF-beta3-mediated 17beta-estradiol synthesis in granulosa cells
These results indicate that PCBs impair the secretory function of ovarian steroidogenic cells by disrupting steroidogenesis and increasing OT secretion, and the receptor SF-1 appears to be essentially involved in these processes.
The SF-1 and beta-catenin pathway convergence on StarD7 expression may have important implications in the phospholipid uptake and transport, contributing to the normal trophoblast development.
The role of the NR5A1 activating functions AF-1 & AF-2 was studied in luteinizing bovine theca cells. The regulation of the 3 NR5A1-controlled genes CYPA11, STAR, & INSL3 apparently is not dependent on NR5A1 activating functions AF-1 or AF-2.
Involvement of Ad4BP/SF-1, DAX-1, and COUP-TFII transcription factor on steroid production and luteinization in ovarian theca cells.
GATA4 and GATA6 mRNA and proteins could be detected in bovine corpus luteum (CL). GATA6 showed a marked decrease at the regressed luteal stage, like NR5A1, NR5A2, and the other steroidogenic markers.
liver receptor homolog (LRH)-1, not CYP19A1, is a direct functional target of miR-1275.
NR5A1 variations influence meat color in a hypothalamus-pituitary-adrenal axis independent manner
The cloning and expression of 4 homologous genes in D. rerio are reported.
ff1d is a new candidate for sex determination and differentiation in a way similar to steroidogenic factor 1, possibly involving anti-Mullerian hormone
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect.
, adrenal 4 binding protein
, adrenal 4-binding protein
, fushi tarazu factor homolog 1
, nuclear receptor AdBP4
, steroid hormone receptor Ad4BP
, steroidogenic factor 1
, steroidogenic factor 1 nuclear receptor
, steroidogenic factor-1
, embryonal LTR-binding protein
, embryonal long terminal repeat-binding protein
, fushi tarazu 1 factor homolog
, steroid hydroxylase positive regulator
, nuclear receptor subfamily 5 group A member 1
, nuclear receptor subfamily 5, group A, member 1
, steroidgenic factor 1
, steroidogenic factor-1 SF-1
, LOW QUALITY PROTEIN: steroidogenic factor 1
, nuclear receptor subfamily 5, group A, member 2, like