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https://www.readbyqxmd.com/read/28033660/wide-spectrum-of-nr5a1-related-phenotypes-in-46-xy-and-46-xx-individuals
#1
REVIEW
Sorahia Domenice, Aline Zamboni Machado, Frederico Moraes Ferreira, Bruno Ferraz-de-Souza, Antonio Marcondes Lerario, Lin Lin, Mirian Yumie Nishi, Nathalia Lisboa Gomes, Thatiana Evelin da Silva, Rosana Barbosa Silva, Rafaela Vieira Correa, Luciana Ribeiro Montenegro, Amanda Narciso, Elaine Maria Frade Costa, John C Achermann, Berenice Bilharinho Mendonca
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI)...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28032338/short-report-sf1-and-spleen-development-new-heterozygous-mutation-literature-review-and-consequences-for-nr5a1-mutated-patient-s-management
#2
Cindy Colson, Estelle Aubry, Maryse Cartigny, Amélie-Anne Rémy, Hélène Franquet, Xavier Leroy, Géraldine Kéchid, Christine Lefèvre, Rémi Besson, Martine Cools, Anne Françoise Spinoit, Charles Sultan, Sylvie Manouvrier, Pascal Philibert, Jamal Ghoumid
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous nonsense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia...
December 29, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28031288/a-recurrent-p-arg92trp-variant-in-steroidogenic-factor-1-nr5a1-can-act-as-a-molecular-switch-in-human-sex-development
#3
Anu Bashamboo, Patricia A Donohoue, Eric Vilain, Sandra Rojo, Pierre Calvel, Sumudu N Seneviratne, Federica Buonocore, Hayk Barseghyan, Nathan Bingham, Jill A Rosenfeld, Surya Narayan Mulukutla, Mahim Jain, Lindsay Burrage, Shweta Dhar, Ashok Balasubramanyam, Brendan Lee, Marie-Charlotte Dumargne, Caroline Eozenou, Jenifer P Suntharalingham, Ksh de Silva, Lin Lin, Joelle Bignon-Topalovic, Francis Poulat, Carlos F Lagos, Ken McElreavey, John C Achermann
No abstract text is available yet for this article.
December 27, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28030592/a-novel-missense-mutation-224g-t-r75m-in-sry-coding-region-interferes-with-nuclear-import-and-results-in-46-xy-complete-gonadal-dysgenesis
#4
Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li
SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY karyotype and dysgerminoma. The wild and mutated SRY were cloned into recombinant plasmid and expressed in cells in vitro, the result showed the mutated SRY is greatly accumulated in cytoplasm while the wild type SRY is mostly localized in nucleus...
2016: PloS One
https://www.readbyqxmd.com/read/28017657/direct-reprogramming-of-mouse-fibroblasts-toward-leydig-like-cells-by-defined-factors
#5
Yan Yang, Ziyi Li, Xupeng Wu, Haolin Chen, Wenting Xu, Qi Xiang, Qihao Zhang, Jie Chen, Ren-Shan Ge, Zhijian Su, Yadong Huang
Leydig cells (LCs) play crucial roles in producing testosterone, and their dysfunction leads to male hypogonadism. LC transplantation is a promising alternative therapy for male hypogonadism. However, the source of LCs limits this strategy for clinical applications. Here, we report our success in reprogramming mice fibroblasts into LCs by expressing three transcriptional factors, Dmrt1, Gata4, and Nr5a1. The induced Leydig-like cells (iLCs) expressed steroidogenic genes, had a global gene expression profile similar to that of adult LCs, and acquired androgen synthesis capabilities...
January 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/27978531/steroidogenic-factor-1-sf-1-nr5a1-and%C3%A2-46-xx-ovotesticular-disorders-of-sex-development-%C3%A2-one-factor-many-phenotypes%C3%A2
#6
Kenneth McElreavey, John C Achermann
No abstract text is available yet for this article.
December 15, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27914857/imidacloprid-induces-various-toxicological-effects-related-to-the-expression-of-3%C3%AE-hsd-nr5a1-and-ogg1-genes-in-mature-and-immature-rats
#7
Amany Abdel-Rahman Mohamed, Wafaa A M Mohamed, Safaa I Khater
This study aimed to evaluate the adverse effects of the insecticide imidacloprid (IMI) on male spermatogenesis, steroidogenesis, and DNA damage in sexually mature and immature rats. Forty male rats (mature and immature) were equally divided into four groups: two mature and two immature groups. IMI groups of both ages were orally administered IMI in corn oil at a concentration of 1 mg/mL for kg BW/day, whereas their respective controls were orally administered corn oil only (1 mL/kg of body weight) daily for 65 days...
February 2017: Environmental Pollution
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#8
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27893151/anomalies-in-human-sex-determination-provide-unique-insights-into-the-complex-genetic-interactions-of-early-gonad-development
#9
REVIEW
Anu Bashamboo, Caroline Eozenou, Sandra Rojo, Ken McElreavey
Human sex-determination (SD) involves complex mutually antagonistic genetic interactions of testis- and ovary-determining pathways. For many years both male and female sex-determination was considered to be regulated by a linear cascade of pro-male and pro-female genes respectively, however it has become clear that male and female development is achieved through the repression of the alternative state. A gene determining the formation of a testis may function by repressing the female state and vice-versa. Uniquely in development, SD is achieved by suppression of the alternate fate and maintained in adulthood by a mutually antagonistic double-repressive pathway...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27886257/an-evolutionary-conserved-interaction-between-the-gcm-transcription-factor-and-the-sf1-nuclear-receptor-in-the-female-reproductive-system
#10
Pierre B Cattenoz, Claude Delaporte, Wael Bazzi, Angela Giangrande
NR5A1 is essential for the development and for the function of steroid producing glands of the reproductive system. Moreover, its misregulation is associated with endometriosis, which is the first cause of infertility in women. Hr39, the Drosophila ortholog of NR5A1, is expressed and required in the secretory cells of the spermatheca, the female exocrine gland that ensures fertility by secreting substances that attract and capacitate the spermatozoids. We here identify a direct regulator of Hr39 in the spermatheca: the Gcm transcription factor...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27855412/a-46-xx-ovotesticular-disorder-of-sex-development-likely-caused-by-a-steroidogenic-factor-1-nr5a1-variant
#11
Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, Benjamin Weaver, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn
BACKGROUND: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. METHODS: Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. RESULTS: Exome results identified a heterozygous NR5A1 variant, p...
November 18, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27833742/the-p-r92w-variant-of-nr5a1-nr5a1-induces-testicular-development-of-46-xx-gonads-in-humans-but-not-in-mice-phenotypic-comparison-of-human-patients-and-mutation-induced-mice
#12
Mami Miyado, Masafumi Inui, Maki Igarashi, Yuko Katoh-Fukui, Kei Takasawa, Akiko Hakoda, Junko Kanno, Kenichi Kashimada, Kenji Miyado, Moe Tamano, Tsutomu Ogata, Shuji Takada, Maki Fukami
NR5A1 is the key regulator of adrenal and gonadal development in both humans and mice. Recently, a missense substitution in human NR5A1, p.R92W, was shown to underlie gonadal dysgenesis in genetic males and testicular formation in genetic females. Here, we investigated the phenotypic effects of the p.R92W mutation on murine development. Mice carrying the p.R92W mutation manifested a similar but milder phenotype than that of the previously described Nr5a1 knockout mice. Importantly, mutation-positive XX mice showed no signs of masculinization...
2016: Biology of Sex Differences
https://www.readbyqxmd.com/read/27821113/case-report-of-whole-genome-sequencing-in-the-xy-female-identification-of-a-novel-sry-mutation-and-revision-of-a-misdiagnosis-of-androgen-insensitivity-syndrome
#13
Sunita M C De Sousa, Karin S Kassahn, Liam C McIntyre, Chan-Eng Chong, Hamish S Scott, David J Torpy
BACKGROUND: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION: Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was later questioned due to the presence of intact Müllerian structures...
November 8, 2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27801941/non-coding-variation-in-disorders-of-sex-development
#14
REVIEW
Dorien Baetens, Bérénice B Mendonça, Hannah Verdin, Martine Cools, Elfride De Baere
Genetic studies in Disorders of Sex Development (DSD), representing a wide spectrum of developmental or functional conditions of the gonad, have mainly been oriented towards the coding genome. Application of genomic technologies, such as whole exome sequencing, result in a molecular genetic diagnosis in ~50% of cases with DSD. Many of the genes mutated in DSD encode transcription factors such as SRY, SOX9, NR5A1, and FOXL2, characterized by a strictly regulated spatiotemporal expression. Hence, it can be hypothesized that at least part of the missing genetic variation in DSD can be explained by non-coding mutations in regulatory elements that alter gene expression, either by reduced, mis- or overexpression of their target genes...
November 1, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27798415/recent-findings-on-the-genetics-of-disorders-of-sex-development
#15
Jessica Kremen, Yee-Ming Chan, Jonathan M Swartz
PURPOSE OF REVIEW: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation, or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD. RECENT FINDINGS: We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015 to 2016 on the topic of DSD genetics...
January 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/27711951/novel-heterozygous-genetic-variants-in-patients-with-46-xy-gonadal-dysgenesis
#16
V Chauhan, V P Jyotsna, V Jain, R Khadgawat, R Dada
46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes was carried out for molecular analysis. Among 10 patients, 5 were diagnosed with complete gonadal dysgenesis (CGD), 3 with partial gonadal dysgenesis (PGD), and 3 with testicular agenesis...
October 6, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27610946/identical-nr5a1-missense-mutations-in-two-unrelated-46-xx-individuals-with-testicular-tissues
#17
Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-Ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami
The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. The p.Arg92Trp mutation was absent from the clinically normal mothers and from 200 unaffected Japanese individuals...
January 2017: Human Mutation
https://www.readbyqxmd.com/read/27579833/er-mitochondria-contacts-find-their-fate
#18
Mabrouka Doghman-Bouguerra, Enzo Lalli
No abstract text is available yet for this article.
December 2016: Cell Cycle
https://www.readbyqxmd.com/read/27553487/two-unrelated-undervirilized-46-xy-males-with-inherited-nr5a1-variants-identified-by-whole-exome-sequencing
#19
Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn
BACKGROUND: Undervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive a genetic diagnosis. NR5A1 mutations can be seen in 10-20% of the cases and are a relatively common cause of undervirilization. METHODS: Whole-exome sequencing was utilized to study 10 undervirilized 46,XY subjects with bifid scrotum. RESULTS: Exome sequencing identified novel NR5A1 variants, both affecting exon 7, in 2 of the 10 subjects with bifid scrotum...
August 24, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27490115/nr5a1-is-a-novel-disease-gene-for-46-xx-testicular-and-ovotesticular-disorders-of-sex-development
#20
Dorien Baetens, Hans Stoop, Frank Peelman, Anne-Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A Veitia, Leendert H J Looijenga, Elfride De Baere, Martine Cools
PURPOSE: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). METHODS: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. RESULTS: We identified a novel heterozygous NR5A1 mutation, c...
August 4, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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