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M P Machado, I Matos, A R Grosso, M Schartl, M M Coelho
Sex determination is a highly variable process that utilizes many different mechanisms to initiate the cascade of differentiation processes. The molecular pathways controlling sexual development are less conserved than previously assumed, and appear to require active maintenance in some species; indeed, the developmental decision of gonad phenotype in gonochoristic species is not fixed at an early developmental stage. Much of the knowledge about sex determination mechanisms was derived from research on gonochoristic, non-seasonal breeders...
October 22, 2016: Molecular Reproduction and Development
Saara Bryk, Anniina Färkkilä, Ralf Bützow, Arto Leminen, Johanna Tapper, Markku Heikinheimo, Leila Unkila-Kallio, Annika Riska
OBJECTIVE: Adult-type ovarian granulosa cell tumors (AGCTs) have an unpredictable tendency to relapse. In a carefully validated patient cohort, we evaluated the prognostic factors related to AGCT recurrence. METHODS: We identified all patients diagnosed with AGCT during 1956-2014 in Helsinki University Hospital, with a minimum follow-up of one year (n=240). After a histological review supplemented with FOXL2 (402C-G) mutation status analysis, we analyzed the clinical data for association with relapse...
October 8, 2016: Gynecologic Oncology
Xin Fang, Yang Gao, Qinglei Li
Ovarian granulosa cell tumors (GCTs) are rare gynecologic tumors in women. Due to the rarity and limited research efforts invested, the etiology of GCTs remains poorly defined. A landmark study has discovered the mutation of forkhead box L2 (FOXL2) as a genetic hallmark of adult GCTs in the human. However, our understanding of the role of cell signaling in GCT development is far from complete. Increasing lines of evidence highlight the importance of TGF-beta (TGFB) superfamily signaling in the pathogenesis of GCTs...
September 28, 2016: Biology of Reproduction
Noriko Nishina-Uchida, Ryuji Fukuzawa, Tomohiro Ishii, Matthew R Anaka, Tomonobu Hasegawa, Yukihiro Hasegawa
Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Maëlle Pannetier, Anne-Amandine Chassot, Marie-Christine Chaboissier, Eric Pailhoux
In mammals, sex determination is a process through which the gonad is committed to differentiate into a testis or an ovary. This process relies on a delicate balance between genetic pathways that promote one fate and inhibit the other. Once the gonad is committed to the female pathway, ovarian differentiation begins and, depending on the species, is completed during gestation or shortly after birth. During this step, granulosa cell precursors, steroidogenic cells, and primordial germ cells start to express female-specific markers in a sex-dimorphic manner...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Jun Yu, Xiu Nie
We report the 402C-G FOXL2 mutation status in 1 epithelial ovarian lesion in a 38-yr-old woman showing stromal proliferations that were morphologically indistinguishable from adult granulosa cell tumor (AGCT). The lesion was a serous borderline tumor. The AGCT-like components were distributed within the septa and cyst walls. FOXL2 mutation was absent. The combination of an epithelial neoplasm and AGCT-like areas is rare but described. The AGCT-like components are likely to be tumor-like proliferations but not truly neoplastic AGCT...
September 17, 2016: International Journal of Gynecological Pathology
Isabelle Guilleret, Lorena Losi, Sonia T Chelbi, Sergio Fonda, Stéphanie Bougel, Sara Saponaro, Gaia Gozzi, Loredana Alberti, Richard Braunschweig, Jean Benhattar
Most types of cancer cells are characterized by aberrant methylation of promoter genes. In this study, we described a rapid, reproducible, and relatively inexpensive approach allowing the detection of multiple human methylated promoter genes from many tissue samples, without the need of bisulfite conversion. The Methylation Ligation-dependent Macroarray (MLM), an array-based analysis, was designed in order to measure methylation levels of 58 genes previously described as putative biomarkers of cancer. The performance of the design was proven by screening the methylation profile of DNA from esophageal cell lines, as well as microdissected formalin-fixed and paraffin-embedded (FFPE) tissues from esophageal adenocarcinoma (EAC)...
October 14, 2016: Biochemical and Biophysical Research Communications
Maëva Elzaiat, Anne-Laure Todeschini, Sandrine Caburet, Reiner A Veitia
In a 46, XY individual, the presence of the Y chromosome harboring the testis-determining factor (SRY) triggers testis determination and differentiation. In a 46, XX individual, the absence of SRY along with the activation of genes associated with the female pathway leads to ovarian development. The latter process has long been considered as a default pathway. However, recent studies have cast doubts on this dogma. Here, after a brief overview of the main steps of ovarian development, we focus on three genes WNT4, RSPO1 and FOXL2 that are essential for ovarian determination, differentiation and/or maintenance...
September 8, 2016: Clinical Genetics
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi, Jérôme Fagart, Anne Fèvre, Anne Laure Todeschini, Reiner A Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
CONTEXT: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
Julia Dörner, Verena Martinez Rodriguez, Ricarda Ziegler, Theresa Röhrig, Rebecca S Cochran, Ronni M Götz, Mark D Levin, Marjut Pihlajoki, Markku Heikinheimo, David B Wilson
As certain strains of mice age, hyperplastic lesions resembling gonadal tissue accumulate beneath the adrenal capsule. Gonadectomy (GDX) accelerates this heterotopic differentiation, resulting in the formation of wedge-shaped adrenocortical neoplasms that produce sex steroids. Stem/progenitor cells that reside in the adrenal capsule and retain properties of the adrenogonadal primordium are thought to be the source of this heterotopic tissue. Here, we demonstrate that GLI1(+) progenitors in the adrenal capsule give rise to gonadal-like cells that accumulate in the subcapsular region...
August 29, 2016: Molecular and Cellular Endocrinology
Yu Gao, Dan Jia, Qing Hu, Dapeng Li
Two foxl2 paralogs, foxl2 (also named foxl2a) and foxl3 (also named foxl2b) were considered as fish-specific duplicates. Both belong to the Forkhead box family of transcription factors, which play important roles in regulating reproduction involved in sexual differentiation and regulation of primordial germ cell and gonadal somatic cell development. We isolated the complete foxl3 cDNA from the rice field eel (Monopterus albus), which undergoes a natural female-to-male sex change via an intersex stage during its life cycle...
September 1, 2016: Endocrinology
Anne Schlegel, Denise Kottwitz, Thomas König, Reimo Tetzner, Gunter Weiss
INTRODUCTION: Low-dose computed tomography (LDCT) is used for screening for lung cancer (LC) in high risk patients in the US. The definition of high risk and the impact of frequent LDCT false positive results remains a challenge. DNA methylation biomarkers are valuable non-invasive diagnostic tools for cancer detection. This study reports on the evaluation of methylation markers in plasma DNA for LC detection, and discrimination of malignant from non-malignant lung disease. METHODS: Circulating DNA was extracted from 3...
August 17, 2016: Journal of Thoracic Oncology
Qiaomu Hu, Yan Meng, Haifeng Tian, Y U Zhang, Hanbing Xiao
Foxl2 and FTZ-F1 play a crucial role in the regulation of gonad development in fish and mammals, but studies of their function in amphibians are scarce. We isolated the full length of Foxl2 (adFoxl2) and Ftz-F1 (adFtz-f1) cDNA from the Chinese giant salamander Andrias davidianus and quantified its expression in various tissues and developing gonads. The adFoxl2 gene encodes 301aa including a conserved forkhead box, and the adFtz-f1 gene encodes 467aa containing an Ftz-F1 box. The amino acid sequences showed high homology with other amphibians...
September 2016: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
Ali Karami, Dzolkhifli Omar, James M Lazorchak, Chee Kong Yap, Zailina Hashim, Simon C Courtenay
Influence of waterborne butachlor (BUC), a commonly used pesticide, on morphometric, biochemical, and molecular biomarkers was evaluated in juvenile, full sibling, diploid and triploid African catfish (Clarias gariepinus). Fish were exposed for 21 days to one of three concentrations of BUC [mean measured µg/L: 22, 44 or 60]. Unexposed (control) triploids were heavier and longer and had higher visceral-somatic index (VSI) than diploids. Also, they had lighter liver weight (HSI) and showed lower transcript levels of brain gonadotropin-releasing hormone (GnRH), aromatase (cyp191b) and fushi tarazu-factor (ftz-f1), and plasma testosterone levels than diploids...
August 11, 2016: Environmental Research
Leora Witkowski, W Glenn McCluggage, William D Foulkes
The introduction of new sequencing technologies has resulted in the discovery of commonly mutated genes in uncommon cancers, including non-epithelial ovarian neoplasms and other rare gynaecological tumours, such as cervical embryonal rhabdomyosarcoma. In some of these neoplasms, mutations in certain genes are both frequent and specific enough for the genomic mutations and sometimes their associated protein loss or overexpression to be used as an aid to diagnosis. In this review, we contrast previous gene identification methods with newer ones, and discuss how the new sequencing technologies (collectively referred to as 'next-generation sequencing') have permitted the identification of specific molecular events that characterize several rare gynaecological neoplasms...
August 9, 2016: Histopathology
Young-Hee Jeong, Hanlin Lu, Chi-Hun Park, Meiyan Li, Huijuan Luo, Joung Joo Kim, Siyang Liu, Kyeong Hee Ko, Shujia Huang, In Sung Hwang, Mi Na Kang, Desheng Gong, Kang Bae Park, Eun Ji Choi, Jung Hyun Park, Yeon Woo Jeong, Changjong Moon, Sang-Hwan Hyun, Nam Hyung Kim, Eui-Bae Jeung, Huanming Yang, Woo Suk Hwang, Fei Gao
Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequencing revealed no potential genomic variations that could explain the pathogenesis of DSD. However, extensive but stochastic anomalies of genome-wide DNA methylation were discovered in these SCNT DSD dogs...
2016: Scientific Reports
Yongan Wang, Qing Yang, Wei Liu, Mingxi Yu, Zhou Zhang, Xiaoyu Cui
Human's ubiquitous exposure to di (2-ethylhexyl) phthalate (DEHP) is thought to be associated with female reproductive toxicity. Previous studies found that DEHP inhibited follicle growth and decreased estradiol levels in adult female mice. However, limited information is available on the link between in utero DEHP exposure and ovarian development in female mouse offspring. The present study evaluates the disturbances in regulatory genes involved in female sex determination and the ovarian outcomes in fetal and postnatal female mice treated with in utero DEHP exposure...
September 15, 2016: Toxicology and Applied Pharmacology
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
Chia-Sui Kao, Muhammad T Idrees, Robert H Young, Thomas M Ulbright
Dr Robert E. Scully, who recognized and defined gonadoblastoma (GB), used the term "dissecting gonadoblastoma" (DGB) to describe variants with either an infiltrative type or diffuse pattern instead of the usual small nested arrangement. These patterns have not been emphasized in the literature. To investigate the features of DGB we examined 50 GBs microscopically and performed immunohistochemistry (IHC) in some. DGB was found in 38 (76%) GBs and was represented by 3 patterns. The most frequent was solid/expansile (n=26), consisting of large coalescent nests of germ cells, often (92%) interrupted by fibrovascular septa, with usually minor numbers of sex cord cells...
October 2016: American Journal of Surgical Pathology
Ali Karami, Nicholas Romano, Tamara Galloway, Hazilawati Hamzah
Despite the ubiquity of microplastics (MPs) in aquatic environments and their proven ability to carry a wide variety of chemicals, very little is known about the impacts of virgin or contaminant-loaded MPs on organisms. The primary aim of this study was to investigate the impacts of virgin or phenanthrene (Phe)-loaded low-density polyethylene (LDPE) fragments on a suite of biomarker responses in juvenile African catfish (Clarias gariepinus). Virgin LDPE (50 or 500µg/L) were preloaded with one of two nominal Phe concentrations (10 or 100µg/L) and were exposed to the fish for 96h...
July 21, 2016: Environmental Research
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