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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 (zeige PAX8 Proteine), weakly positive for SF-1, and negative for PAX-2 (zeige PAX2 Proteine) and GATA-3 (zeige GATA3 Proteine)
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 (zeige AMH Proteine) production; specifically, through the coordinated interplay between FOXL2 (zeige FOXL2 Proteine) 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 (zeige FADS1 Proteine) 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 (zeige FADS1 Proteine)). Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1 (zeige MAMLD1 Proteine), a direct NR5A1 target previously associated with 46,XY DSD (zeige FADS1 Proteine). This study proposes NR5A1 as a novel gene for 46,XX (ovo)testicular DSD (zeige FADS1 Proteine).
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 (zeige FADS1 Proteine) 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
Collectively, this evidence suggests that SF-1 (zeige SF1 Proteine) 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 (zeige FDXR Proteine) concentration via transcription of Me1 (zeige ME1 Proteine) and Mthfd2 (zeige MTHFD2 Proteine) genes in adrenocortical cells. (Ad4BP = nuclear receptor subfamily 5 group A member 1; Me1 (zeige ME1 Proteine) = malic enzyme 1 (zeige ME1 Proteine); Mthfd2 (zeige MTHFD2 Proteine) = bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase)
WT1 (zeige WT1 Proteine) is required for the lineage specification of both Sertoli and granulosa cells by repressing Sf1 (zeige SF1 Proteine) expression. Without Wt1 (zeige WT1 Proteine), the expression of Sf1 (zeige SF1 Proteine) 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 (zeige STAR Proteine) and CYP11A1 (zeige CYP11A1 Proteine), and a resulting increase in unmetabolized cholesterol.
SF-1 (zeige SF1 Proteine) 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 (zeige CTNNB1 Proteine) accumulation
The results suggest that gonadal steroids do not influence the production of neurosteroids in the fetal brain, nor does SF-1 (zeige SF1 Proteine) play a major role in the regulation of steroidogenic enzyme expression in the brain.
MiR (zeige MLXIP Proteine)-383 promoted the expression of miR (zeige MLXIP Proteine)-320 which regulated granulosa cell functions by targeting E2F1 (zeige E2F1 Proteine) and SF-1 (zeige SF1 Proteine) proteins.
Data indicate that genetic ablation of the Vanin-1 (Vnn1 (zeige VNN1 Proteine)) gene in SF-1 (NR5A1) transgenic mice significantly reduced the severity of neoplastic lesions in the adrenal cortex.
FOXL2 (zeige FOXL2 Proteine) negatively regulates Sf1 (zeige SF1 Proteine) expression by antagonizing WT1 (zeige WT1 Proteine)-KTS during early ovarian development in mice
chemical inhibition of Nr5a2 function during hepatopancreas progenitor specification was sufficient to disrupt exocrine pancreas formation and enhance the size of the embryonic liver, suggesting that Nr5a2 regulates hepatic vs. pancreatic progenitor fate choice.
ff1a functions in both slow and fast muscle morphogenesis in response to Hedgehog (zeige SHH Proteine) signaling, and this function parallels the activity of another slow muscle gene, prox1 (zeige PROX1 Proteine)
The role of Sox9a in ff1a gene regulation and function was studied using sox9a morpholinos.
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 (zeige Psmd4 Proteine)-2 was studied in luteinizing bovine theca cells. The regulation of the 3 NR5A1-controlled genes CYPA11, STAR, & INSL3 (zeige INSL3 Proteine) apparently is not dependent on NR5A1 activating functions AF-1 (zeige Psmd4 Proteine) or AF-2.
Involvement of Ad4BP/SF-1, DAX-1 (zeige NR0B1 Proteine), and COUP-TFII (zeige NR2F2 Proteine) transcription factor on steroid production and luteinization in ovarian theca cells.
GATA4 (zeige GATA4 Proteine) and GATA6 (zeige GATA6 Proteine) mRNA and proteins could be detected in bovine corpus luteum (CL). GATA6 (zeige GATA6 Proteine) showed a marked decrease at the regressed luteal stage, like NR5A1, NR5A2 (zeige NR5A2 Proteine), and the other steroidogenic markers.
liver receptor homolog (LRH)-1 (zeige NR5A2 Proteine), not CYP19A1 (zeige CYP19A1 Proteine), is a direct functional target of miR (zeige MYLIP Proteine)-1275.
NR5A1 variations influence meat color in a hypothalamus-pituitary-adrenal axis independent manner
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
, fushi tarazu
, nuclear receptor subfamily 5 group A member 2
, 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