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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 (show FADS1 Proteins)). Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1 (show MAMLD1 Proteins), a direct NR5A1 target previously associated with 46,XY DSD (show FADS1 Proteins). This study proposes NR5A1 as a novel gene for 46,XX (ovo)testicular DSD (show FADS1 Proteins).
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 (show FADS1 Proteins) 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 (show POU1F1 Proteins), SF-1, and ACTH (show POMC Proteins).
We analysed a Pakistani cohort of patients with 46,XY disorders of sex development (DSD (show FADS1 Proteins)), 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 (show FADS1 Proteins).
demonstrate aberrant expressions of SF-1 and LRH-1 (show NR5A2 Proteins) in endometriotic granulosa-lutein cells
Collectively, this evidence suggests that SF-1 (show SF1 Proteins) 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 (show FDXR Proteins) concentration via transcription of Me1 (show ME1 Proteins) and Mthfd2 (show MTHFD2 Proteins) genes in adrenocortical cells. (Ad4BP = nuclear receptor subfamily 5 group A member 1; Me1 (show ME1 Proteins) = malic enzyme 1 (show ME1 Proteins); Mthfd2 (show MTHFD2 Proteins) = bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase)
WT1 (show WT1 Proteins) is required for the lineage specification of both Sertoli and granulosa cells by repressing Sf1 (show SF1 Proteins) expression. Without Wt1 (show WT1 Proteins), the expression of Sf1 (show SF1 Proteins) 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 (show STAR Proteins) and CYP11A1 (show CYP11A1 Proteins), and a resulting increase in unmetabolized cholesterol.
SF-1 (show SF1 Proteins) 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 (show CTNNB1 Proteins) accumulation
The results suggest that gonadal steroids do not influence the production of neurosteroids in the fetal brain, nor does SF-1 (show SF1 Proteins) play a major role in the regulation of steroidogenic enzyme expression in the brain.
MiR (show MLXIP Proteins)-383 promoted the expression of miR (show MLXIP Proteins)-320 which regulated granulosa cell functions by targeting E2F1 (show E2F1 Proteins) and SF-1 (show SF1 Proteins) proteins.
Data indicate that genetic ablation of the Vanin-1 (Vnn1 (show VNN1 Proteins)) gene in SF-1 (NR5A1) transgenic mice significantly reduced the severity of neoplastic lesions in the adrenal cortex.
FOXL2 (show FOXL2 Proteins) negatively regulates Sf1 (show SF1 Proteins) expression by antagonizing WT1 (show WT1 Proteins)-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 (show SHH Proteins) signaling, and this function parallels the activity of another slow muscle gene, prox1 (show PROX1 Proteins)
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 (show Psmd4 Proteins)-2 was studied in luteinizing bovine theca cells. The regulation of the 3 NR5A1-controlled genes CYPA11, STAR, & INSL3 (show INSL3 Proteins) apparently is not dependent on NR5A1 activating functions AF-1 (show Psmd4 Proteins) or AF-2.
Involvement of Ad4BP/SF-1, DAX-1 (show NR0B1 Proteins), and COUP-TFII (show NR2F2 Proteins) transcription factor on steroid production and luteinization in ovarian theca cells.
GATA4 (show GATA4 Proteins) and GATA6 (show GATA6 Proteins) mRNA and proteins could be detected in bovine corpus luteum (CL). GATA6 (show GATA6 Proteins) showed a marked decrease at the regressed luteal stage, like NR5A1, NR5A2 (show NR5A2 Proteins), and the other steroidogenic markers.
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