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https://www.readbyqxmd.com/read/29429410/the-human-fetal-adrenal-produces-cortisol-but-no-detectable-aldosterone-throughout-the-second-trimester
#1
Zoe C Johnston, Michelle Bellingham, Panagiotis Filis, Ugo Soffientini, Denise Hough, Siladitya Bhattacharya, Marc Simard, Geoffrey L Hammond, Peter King, Peter J O'Shaughnessy, Paul A Fowler
BACKGROUND: Human fetal adrenal glands are highly active and, with the placenta, regulate circulating progesterone, estrogen and corticosteroids in the fetus. At birth the adrenals are essential for neonate salt retention through secretion of aldosterone, while adequate glucocorticoids are required to prevent adrenal insufficiency. The objective of this study was to carry out the first comprehensive analysis of adrenal steroid levels and steroidogenic enzyme expression in normal second trimester human fetuses...
February 12, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29402198/the-essential-role-of-gata6-in-the-activation-of-estrogen-synthesis-in-endometriosis
#2
Lia A Bernardi, Matthew T Dyson, Hideki Tokunaga, Christia Sison, Muge Oral, Jared C Robins, Serdar E Bulun
Endometriotic stromal cells synthesize estradiol via the steroidogenic pathway. Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is critical, but alone not sufficient, in activating this cascade that involves at least 5 genes. To evaluate whether another transcription factor is required for the activation of this pathway, we examined whether GATA Binding Protein 6 (GATA6) can transform a normal endometrial stromal cell (NoEM) into an endometriotic-like cell by conferring an estrogen-producing phenotype...
January 1, 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/29393271/phenotypic-variation-in-46-xx-disorders-of-sex-development-due-to-the-nr5a1-p-r92w-variant-a-sibling-case-report-and-literature-review
#3
Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada
Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes...
January 24, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29332064/recurrent-intragenic-duplication-within-the-nr5a1-gene-and-severe-proximal-hypospadias
#4
Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, Marie Legendre, Maud Chabaud, Marie-Dominique Bouvier, Georges Audry, Serge Amselem, Jean-Pierre Siffroi
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements...
January 13, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29330500/integration-of-gwas-pathway-and-network-analyses-reveals-novel-mechanistic-insights-into-the-synthesis-of-milk-proteins-in-dairy-cows
#5
Sara Pegolo, Núria Mach, Yuliaxis Ramayo-Caldas, Stefano Schiavon, Giovanni Bittante, Alessio Cecchinato
The quantities and proportions of protein fractions have notable effects on the nutritional and technological value of milk. Although much is known about the effects of genetic variants on milk proteins, the complex relationships among the set of genes and pathways regulating the different protein fractions synthesis and secretion into milk in dairy cows are still not completely understood. We conducted genome-wide association studies (GWAS) for milk nitrogen fractions in a cohort of 1,011 Brown Swiss cows, which uncovered 170 significant single nucleotide polymorphism (SNPs), mostly located on BTA6 and BTA11...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29306929/comparison-between-two-inhibin-b-elisa-assays-in-46-xy-testicular-disorders-of-sex-development-dsd-with-normal-testosterone-secretion
#6
Guilherme Guaragna-Filho, Antônio Ramos Calixto, Georgette Beatriz De Paula, Laurione Cândido De Oliveira, André Moreno Morcillo, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
BACKGROUND: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion. METHODS: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29190620/four-novel-nr5a1-mutations-in-46-xy-gonadal-dysgenesis-patients-including-frameshift-mutations-with-altered-subcellular-sf-1-localization
#7
Jan Rehkämper, Ann-Christin Tewes, Judit Horvath, Gerd Scherer, Peter Wieacker, Susanne Ledig
46,XY gonadal dysgenesis (46,XY GD) is a disorder of sexual development caused by mutations in genes involved in early gonadal development (bipotential gonads) and testis differentiation. In 46,XY GD individuals, mutations of the SRY gene are detected most frequently, followed by mutations in the NR5A1 (SF-1) gene, but in a lot of cases, the underlying molecular mechanism remains elusive. In this study, we retrospectively performed sequence analyses of the NR5A1 (SF-1) gene in 84 patients with complete, partial, and syndromic forms of 46,XY GD...
December 1, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#8
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29090230/genetic-screening-of-iranian-patients-with-46-xy-disorders-of-sex-development
#9
Azadeh Shojaei, Reza Ebrahimzadeh-Vesal, Ali Ahani, Maryam Razzaghy-Azar, Golnaz Khakpour, Farideh Ghazi, Javad Tavakkoly-Bazzaz
BACKGROUND: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY DSDs have no definitive etiological diagnoses; therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored...
October 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29027717/functional-characterization-of-five-nr5a1-gene-mutations-found-in-patients-with-46-xy-disorders-of-sex-development
#10
Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Juliana Gabriel Ribeiro de Andrade, Camila Maia Costa de Queiroz, Isabella Lopes Monlleó, Dagmar Struve, Olaf Hiort, Ralf Werner
Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorder of sex development (DSD) can be associated with a range of conditions of phenotypes, however the genotype-phenotype correlation remains elusive in many cases. In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p...
October 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/29027299/functional-characterization-of-novel%C3%A2-nr5a1%C3%A2-variants-reveals-multiple-complex-roles-in-disorders-of-sex-development
#11
Gorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M Thompson, Anne Baxendale, Charles F Verge, Antony R Lafferty, Nanis S Marzuki, Ardy Santosa, Nurin A Listyasari, Stefan Riedl, Garry Warne, Leendert Looijenga, Sultana Faradz, Katie L Ayers, Andrew H Sinclair
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Müllerian development...
October 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/28973382/ziram-delays-pubertal-development-of-rat-leydig-cells
#12
Xiaoling Guo, Songyi Zhou, Yong Chen, Xianwu Chen, Jianpeng Liu, Fei Ge, Qingquan Lian, Xiaomin Chen, Ren-Shan Ge
Ziram [zinc, bis (dimethyldithiocarbamate)] is an agricultural dithiocarbamate fungicide. By virtual screening, we have identified that ziram is a potential endocrine disruptor. To investigate its effects on pubertal development of Leydig cells, 35-day-old male Sprague Dawley rats orally received ziram (2 or 4 mg/kg/day) for 4 weeks and immature Leydig cells isolated from 35-day-old rat testes were treated with ziram (0.5-50 μM in vitro). Serum hormones, Leydig cell number and specific gene or protein expression levels after in vivo treatment were determined and medium androgen levels were measured as well as apoptosis of Leydig cells after in vitro treatment were determined...
September 15, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28893949/timing-of-adrenal-regression-controlled-by-synergistic-interaction-between-sf1-sumoylation-and-dax1
#13
Yewei Xing, Ken-Ichirou Morohashi, Holly A Ingraham, Gary D Hammer
The nuclear receptor steroidogenic factor 1 (Sf1, Nr5a1, Ad4bp) is crucial for formation, development and function of steroidogenic tissues. A fetal adrenal enhancer (FAdE) in the Sf1 gene was previously identified to direct Sf1 expression exclusively in the fetal adrenal cortex and is bound by both Sf1 and Dax1. Here, we have examined the function of Sf1 SUMOylation and its interaction with Dax1 on FAdE function. A diffused prolonged pattern of FAdE expression and delayed regression of the postnatal fetal cortex (X-zone) were detected in both the SUMOylation-deficient-Sf1(2KR/2KR) and Dax1 knockout mouse lines, with FAdE expression/activity retained in the postnatal 20αHSD-positive postnatal X-zone cells...
October 15, 2017: Development
https://www.readbyqxmd.com/read/28694164/a-homologue-of-nr5a1-activates-cyp19a1a-transcription-additively-with-nr5a2-in-ovarian-follicular-cells-of-the-orange-spotted-grouper
#14
Boyang Shi, Huijie Lu, Lihong Zhang, Weimin Zhang
Transcription factors of nuclear receptor 5A (Nr5a) subfamily play pivotal roles in regulation of steroidogenic enzymes in vertebrates including teleosts. In the orange-spotted grouper, the expression of Nr5a1a was only detectable in the ovary, spleen, and head kidney in the female. The immunoreactive Nr5a1a was present in ovarian follicular and germ cells. In the ovarian follicular cells surrounding vitellogenic oocytes, Nr5a1a was detected both in the nucleus and cytoplasm, and co-localized with Cyp19a1a and Nr5a2...
January 15, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28624161/clinical-follow-up-of-the-first-sf-1-insufficient-female-patient
#15
Karine Gerster, Anna Biason-Lauber, Eugen J Schoenle
OBJECTIVE: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency...
June 14, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28459839/new-nr5a1-mutations-and-phenotypic-variations-of-gonadal-dysgenesis
#16
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p.18DKVSG22del nonframeshift deletion in the DNA-binding domain and a familiar p.Y211Tfs*83 frameshift mutation...
2017: PloS One
https://www.readbyqxmd.com/read/28348070/syndecan-1-represses-cell-growth-and-fsh-responsiveness-in-human-granulosa-cells
#17
Simon Colombe, Laura Houllier, Emmanuelle Fleurot, Guénaëlle Levallet, Annie BenhaÏm, Pierre-Jacques Bonnamy, Jerome Levallet
Albeit devoid of intrinsic catalytic activity, the transmembrane heparan sulfate proteoglycan syndecan 1 plays critical roles in cellular processes such as extracellular matrix crosstalk, cytoskeletal organization, cell spreading, proliferation and differentiation. During the ovarian cycle, the expression of syndecan 1 in granulosa cells shows cyclic variation suggesting that it might fulfil specific roles in follicle development. To investigate its physiological roles on granulosa cells, syndecan 1 was overexpressed in human granulosa cell line KGN which retains features of granulosa cells from small antral follicle such as estradiol (E2) synthesis and low expression of functional FSH receptor (FSHR)...
March 27, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28347743/transcription-of-cyp19a1-is-directly-regulated-by-sf-1-in-the-theca-cells-of-ovary-follicles-in-chicken
#18
Jing Wang, Yanzhang Gong
Many studies have suggested the important role of estrogen in ovarian differentiation and development of vertebrates including chicken. Cytochrome P450 aromatase, encoded by CYP19A1, is a key enzyme in estrogen synthesis, but the mechanism of CYP19A1 regulation in chicken remains unknown. Here, we found that CYP19A1 was only expressed in the theca cell layers of chicken ovary follicles. Steroidogenic factor 1 (SF-1, also named as nuclear receptor subfamily 5 group A member 1, NR5A1), a potential regulators, was expressed in both the theca cell layers and granulosa cell layers...
June 1, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28326187/a-novel-c-terminal-truncating-nr5a1-mutation-in-dizygotic-twins
#19
Atsushi Hattori, Hiroaki Zukeran, Maki Igarashi, Suzuka Toguchi, Yuji Toubaru, Takanobu Inoue, Yuko Katoh-Fukui, Maki Fukami
Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28270555/dosage-dependent-regulation-of-vav2-expression-by-steroidogenic-factor-1-drives-adrenocortical-carcinoma-cell-invasion
#20
Carmen Ruggiero, Mabrouka Doghman-Bouguerra, Silviu Sbiera, Iuliu Sbiera, Maddy Parsons, Bruno Ragazzon, Aurélie Morin, Estelle Robidel, Judith Favier, Jérôme Bertherat, Martin Fassnacht, Enzo Lalli
Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with a dismal prognosis. Genomic studies have enabled progress in our understanding of the molecular bases of ACC, but factors that influence its prognosis are lacking. Amplification of the gene encoding the transcription factor steroidogenic factor-1 (SF-1; also known as NR5A1) is one of the genetic alterations common in ACC. We identified a transcriptional regulatory mechanism involving increased abundance of VAV2, a guanine nucleotide exchange factor for small GTPases that control the cytoskeleton, driven by increased expression of the gene encoding SF-1 in ACC...
March 7, 2017: Science Signaling
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