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https://www.readbyqxmd.com/read/28711355/characterization-of-the-foxl2-proximal-promoter-and-coding-sequence-from-the-common-snapping-turtle-chelydra-serpentina
#1
Lei Guo, Turk Rhen
Sex is determined by temperature during embryogenesis in snapping turtles, Chelydra serpentina. Previous studies in this species show that dihydrotestosterone (DHT) induces ovarian development at temperatures that normally produce males or mixed sex ratios. The feminizing effect of DHT is associated with increased expression of FoxL2, suggesting that androgens regulate transcription of FoxL2. To test this hypothesis, we cloned the proximal promoter (1.6kb) and coding sequence for snapping turtle FoxL2 (tFoxL2) in frame with mCherry to produce a fluorescent reporter...
July 12, 2017: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/28700438/foxl2-mutation-analysis-of-ovarian-sex-cord-stromal-tumors-genotype-phenotype-correlation-with-diagnostic-considerations
#2
Natalia Buza, Serena Wong, Pei Hui
Correlation of FOXL2 mutation status with morphologic features and reticulin staining patterns was performed in a comprehensive single-institutional cohort of ovarian sex cord-stromal tumors. Fifty-one cases were included, 35 of which were morphologically diagnosed as adult granulosa cell tumor, 4 as Sertoli-Leydig cell tumor, 11 as fibroma/fibrothecoma and 1 as a thecoma. Of the adult granulosa cell tumors, 31 (88.6%) harbored FOXL2 mutation. Abundant pale cytoplasm was seen in 51.6% (16/31) of FOXL2 mutated tumors, compared with 6...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28698213/gene-expression-profiles-of-brain-endothelial-cells-during-embryonic-development-at-bulk-and-single-cell-levels
#3
Mike Hupe, Minerva Xueting Li, Susanne Kneitz, Daria Davydova, Chika Yokota, Julianna Kele-Olovsson, Belma Hot, Jan M Stenman, Manfred Gessler
The blood-brain barrier is a dynamic interface that separates the brain from the circulatory system, and it is formed by highly specialized endothelial cells. To explore the molecular mechanisms defining the unique nature of vascular development and differentiation in the brain, we generated high-resolution gene expression profiles of mouse embryonic brain endothelial cells using translating ribosome affinity purification and single-cell RNA sequencing. We compared the brain vascular translatome with the vascular translatomes of other organs and analyzed the vascular translatomes of the brain at different time points during embryonic development...
July 11, 2017: Science Signaling
https://www.readbyqxmd.com/read/28677787/cloning-of-the-promoter-region-of-a-human-gene-foxl2-and-its-regulation-by-stat3
#4
Yangyang Han, Tianxiao Wang, Shudong Sun, Zhaohui Zhai, Shengjian Tang
Forkhead box L2 (FOXL2) is a transcription factor, which is involved in blepharophimosis, ptosis, and epicanthus in versus syndrome (BPES), premature ovarian failure (POF), as well as almost all stages of ovarian development and function. FOXL2 has various target genes, which are implicated in numerous processes, including sex determination, cell cycle regulation and apoptosis and stress response regulation in mammals. However, studies regarding the upstream regulation of FOXL2 are limited. In the present study, the promoter of FOXL2 was successfully cloned and registered in Gen Bank, and a dual luciferase reporter (DLR) analysis demonstrated that the luciferase activity was significantly induced by the promoter of FOXL2...
July 4, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28667307/dmrt1-is-required-for-primary-male-sexual-differentiation-in-chinese-soft-shelled-turtle-pelodiscus-sinensis
#5
Wei Sun, Han Cai, Gloria Zhang, Haiyan Zhang, Haisheng Bao, Li Wang, Jian Ye, Guoying Qian, Chutian Ge
In vertebrates, the primary sex-determining signals that initiate sexual development are remarkably diverse, ranging from complete genetic to environmental cues. However, no sex determination-related genes have been functionally identified in reptiles. Here, we characterized a conserved DM domain gene, Dmrt1, in Chinese soft-shelled turtle Pelodiscus sinensis (P. sinensis), which exhibits ZZ/ZW sex chromosomes. Dmrt1 exhibited early male-specific embryonic expression, preceding the onset of gonadal sex differentiation...
June 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28660501/the-anti-m%C3%A3-llerian-hormone-amh-induces-forkhead-box-l2-foxl2-expression-in-primary-culture-of-human-granulosa-cells-in-vitro
#6
Sandro Sacchi, Federica Marinaro, Susanna Xella, Tiziana Marsella, Daniela Tagliasacchi, Antonio La Marca
PURPOSE: Anti-Müllerian hormone (AMH) and forkhead box L2 (FOXL2) are two pivotal genes expressed in human granulosa cells (hGCs) where both genes share similar inhibitory functions on activation and follicular growth in order to preserve the ovarian follicle reserve. Furthermore, AMH and FOXL2 contribute to inhibit steroidogenesis, decreasing or preventing the activation of gonadotrophin-dependent aromatase CYP19A1 cytochrome P450 family 19 subfamily A member 1 (CYP19A1). The purpose of this study is to evaluate the role of AMH in regulating the expression of FOXL2...
June 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28637242/yap-and-wwtr1-regulate-the-expression-of-sex-determining-genes-in-sertoli-cells-but-their-inactivation-does-not-cause-sex-reversal
#7
Adrien Levasseur, Marilène Paquet, Derek Boerboom, Alexandre Boyer
Yes-associated protein (YAP) and WW containing transcription regulator 1 (WWTR1) are two functionally redundant transcriptional regulators that are downstream effectors of the Hippo signaling pathway, and that act as major regulators of cell growth and differentiation. To elucidate their role in Sertoli cells, primary Sertoli cell culture from Yapflox/flox; Wwtr1flox/flox animals were infected with a Cre recombinase-expressing adenovirus. Concomitant inactivation of Yap and Wwtr1 resulted in a decrease in the mRNA levels of the male sex differentiation genes Dhh, Dmrt1, Sox9 and Wt1, whereas those of genes involved in female differentiation (Wnt4, Rspo1 and Foxl2) were induced...
June 16, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28615473/forkhead-box-transcription-factor-l2-activates-fcp3c-to-regulate-insect-chorion-formation
#8
Yu-Xuan Ye, Peng-Lu Pan, Ji-Yu Xu, Zhang-Fei Shen, Dong Kang, Jia-Bao Lu, Qing-Lin Hu, Hai-Jian Huang, Yi-Han Lou, Nai-Ming Zhou, Chuan-Xi Zhang
Most animals are oviparous. However, the genes regulating egg shell formation remain not very clear. In this study, we found that Nilaparvata lugens Forkhead box transcription factor L2 (NlFoxL2) directly activated follicle cell protein 3C (NlFcp3C) to regulate chorion formation. NlFoxL2 and NlFcp3C had a similar expression pattern, both highly expressed in the follicular cells of female adults. Knockdown of NlFoxL2 or NlFcp3C also resulted in the same phenotypes: obesity and female infertility. RNA interference (RNAi) results suggested that NlFcp3C is a downstream gene of NlFoxL2 Furthermore, transient expression showed that NlFoxL2 could directly activate the NlFcp3C promoter...
June 2017: Open Biology
https://www.readbyqxmd.com/read/28604951/-analysis-of-foxl2-gene-mutations-in-5-families-affected-with-blepharophimosis-ptosis-and-epicanthus-inversus-syndrome
#9
Xiaowen Yang, Wen Li, Juan Du, Shimin Yuan, Wenbin He, Qianjun Zhang, Changgao Zhong, Guangxiu Lu, Yueqiu Tan
OBJECTIVE: To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. METHODS: Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28594898/clinical-and-genetic-analysis-of-recurrent-adult-type-granulosa-cell-tumor-of-the-ovary-persistent-preservation-of-heterozygous-c-402c-g-foxl2-mutation
#10
Satoshi Yanagida, Michael S Anglesio, Tayyebeh M Nazeran, Amy Lum, Momoko Inoue, Yasushi Iida, Hirokuni Takano, Takashi Nikaido, Aikou Okamoto, David G Huntsman
BACKGROUND: Adult-type granulosa cell tumors of the ovary (aGCTs) are rare tumors that represent 2-5% of ovarian malignancies. The prognosis of this tumor is favorable, and it is characterized by slow progression. 10-30% of these tumors recur after 4-7 years of the primary surgery and the 5-year survival rate from the first recurrence is 55%, for the incompletely resected patients. At this time, complete resection is the only prognostic factor for better outcome, and establishing a novel strategy for identification and/or treatment of recurrent tumors is crucial...
2017: PloS One
https://www.readbyqxmd.com/read/28573215/molecular-histologic-and-radiologic-findings-of-high-grade-invasive-adenocarcinoma-arising-in-oncocytic-subtype-of-intraductal-papillary-mucinous-neoplasm-a-case-report-and-review-of-literature
#11
Jared Shows, Christan Bartsch, Heather Carmichael, Irfan Qureshi, Barish Edil, Hubert Fenton
Background: We present a case of adenocarcinoma arising in the oncocytic subtype of intraductal papillary mucinous neoplasm (O-IPMN), with emphasis on the molecular findings in the adenocarcinoma component. Tissue microdissection and next-generation sequencing were performed using a 26 gene panel (AKT1, ALK, APC, BRAF, CDH1, CTNNB1, EGFR, ERBB2, FBXW7, FGFR2, FOXL2, GNAQ, GNAS, KIT, KRAS, MAP2K1, MET, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SRC, STK11, TP53) of cancer-related genes. Case Presentation: A 69-year-old Caucasian female presented with chest pain and was found to have findings consistent with acute pancreatitis...
2017: J Pancreat Cancer
https://www.readbyqxmd.com/read/28515008/localization-and-distribution-of-gonadal-proteins-in-the-oviparous-lizard-sceloporus-aeneus-squamata-phrynosomatidae
#12
Antonio-Rubio Nivia Rocio, Villagrán-SantaCruz Maricela, Moreno-Mendoza Norma
Among vertebrates, several specific proteins are involved in the function and development of gonads. Several genes such as SOX9, FOXL2, DDX4, IFITM3, and DPPA3, are active during embryonic differentiation and maintain their expression in adult tissues, playing important roles in the function and development of the line cell, where these are produced. Among reptiles, molecular mechanisms for sex differentiation have been analyzed in turtles, crocodiles, and some lizards, while in adult stages such studies are scarce...
May 14, 2017: Acta Histochemica
https://www.readbyqxmd.com/read/28511421/surgical-outcome-of-epicanthus-and-telecanthus-correction-by-double-z-plasty-and-trans-nasal-fixation-with-prolene-suture-in-blepharophimosis-syndrome
#13
Salil Kumar Mandal, Aparna Mandal, James Christian Fleming, Tara Goecks, Andrew Meador, Brian T Fowler
INTRODUCTION: Blepharophimosis Syndrome (BPES) is a complex and rare disease characterized by epicanthus inversus, telecanthus, lateral ectropion, narrowed or shortened inter-palpebral fissure distance and ptosis. It is mostly bilateral and may or may not be symmetrical. It is typically inherited as an autosomal dominant trait. In sporadic cases, the disease may occur without a prior family history as a genetic mutation from a deletion or translocation of the FOXL2 gene, which maps to chromosome 3q23...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28489928/identification-and-analysis-of-the-%C3%AE-catenin1-gene-in-half-smooth-tongue-sole-cynoglossus-semilaevis
#14
Ying Zhu, Qiaomu Hu, Wenteng Xu, Hailong Li, Hua Guo, Liang Meng, Min Wei, Sheng Lu, Changwei Shao, Na Wang, Guanpin Yang, Songlin Chen
β-catenin is a key signalling molecule in the canonical Wnt pathway, which plays a role in cell adhesion, embryogenesis and sex determination. However, little is known about its function in teleosts. We cloned and characterized the full-length β-catenin1 gene from half-smooth tongue sole (Cynoglossus semilaevis), which was designated CS-β-catenin1. The CS-β-catenin1 cDNA consists of 2,346 nucleotides and encodes a protein with 782 amino acids. Although CS-β-catenin1 was transcribed in the gonads of both sexes, the level was significantly higher in ovaries compared to testes...
2017: PloS One
https://www.readbyqxmd.com/read/28454515/identification-and-profiling-of-cyprinus-carpio-micrornas-during-ovary-differentiation-by-deep-sequencing
#15
Fang Wang, Yongfang Jia, Po Wang, Qianwen Yang, QiYan Du, ZhongJie Chang
BACKGROUND: MicroRNAs (miRNAs) are endogenous small non-coding RNAs that regulate gene expression by targeting specific mRNAs. However, the possible role of miRNAs in the ovary differentiation and development of fish is not well understood. In this study, we examined the expression profiles and differential expression of miRNAs during three key stages of ovarian development and different developmental stages in common carp Cyprinus carpio. RESULTS: A total of 8765 miRNAs were identified, including 2155 conserved miRNAs highly conserved among various species, 145 miRNAs registered in miRBase for common carp, and 6505 novel miRNAs identified in common carp for the first time...
April 28, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28426816/ex-vivo-cultures-combined-with-vivo-morpholino-induced-gene-knockdown-provide-a-system-to-assess-the-role-of-wt1-and-gata4-during-gonad-differentiation
#16
Lucas J Rudigier, Christof Dame, Holger Scholz, Karin M Kirschner
Gonad morphogenesis relies on the correct spatiotemporal expression of a number of genes that together fulfill the differentiation of the bipotential gonad into testes or ovaries. As such, the transcription factors WT1 and GATA4 are pivotal for proper gonadal development. Here we address the contributions of GATA4 and WT1 to the sex differentiation phase in testes and ovaries. We applied an ex vivo technique for cultivating gonads in hanging droplets of media that were supplemented with vivo-morpholinos to knockdown WT1 and GATA4 either alone or in combination at the same developmental stage...
2017: PloS One
https://www.readbyqxmd.com/read/28397607/sex-reversal-and-analyses-of-possible-involvement-of-sex-steroids-in-scallop-gonadal-development-in-newly-established-organ-culture-systems
#17
Ayano Otani, Tadaaki Nakajima, Tomomi Okumura, Shiro Fujii, Yasuhiro Tomooka
Many molluscs perform sex reversal, and sex hormones may be involved in the process. In adult scallops, Patinopecten yessoensis, gonadotropin releasing hormone and 17β-estradiol (E2) are involved in male sexual maturation, however, little is known about the effects of E2 and testosterone (T) on the gonadal differentiation in young scallops. In the present study, scallop gonadal development was analyzed to determine the sex reversal stage in Funka bay, and effects of E2 and T were examined. In Funka bay, almost all scallops were male at month 12...
April 2017: Zoological Science
https://www.readbyqxmd.com/read/28397603/masculinization-related-genes-and-cell-mass-structures-during-early-gonadal-differentiation-in-the-african-clawed-frog-xenopus-laevis
#18
Mikako Wada, Kazuko Fujitani, Kei Tamura, Shuuji Mawaribuchi, Yosuke Kamata, Nobuhiko Takamatsu, Michihiko Ito
The African clawed frog Xenopus laevis has a female heterogametic ZZ/ZW-type sex-determining system. We previously discovered a W-linked female sex-determining gene dm-W that is involved in ovary formation, probably through the up-regulation of the estrogen synthesis genes cyp19a1 and foxl2. We also reported that a unique "mass-in-line structure", which disappears from ZZ gonads during early testicular development, might serve as the basis for ovary differentiation in ZW gonads. However, the molecular mechanisms underlying early masculinization are poorly understood...
April 2017: Zoological Science
https://www.readbyqxmd.com/read/28377632/integrated-analysis-of-gene-expression-and-copy-number-identified-potential-cancer-driver-genes-with-amplification-dependent-overexpression-in-1-454-solid-tumors
#19
Keiichi Ohshima, Keiichi Hatakeyama, Takeshi Nagashima, Yuko Watanabe, Kaori Kanto, Yuki Doi, Tomomi Ide, Yuji Shimoda, Tomoe Tanabe, Sumiko Ohnami, Shumpei Ohnami, Masakuni Serizawa, Koji Maruyama, Yasuto Akiyama, Kenichi Urakami, Masatoshi Kusuhara, Tohru Mochizuki, Ken Yamaguchi
Identification of driver genes contributes to the understanding of cancer etiology and is imperative for the development of individualized therapies. Gene amplification is a major event in oncogenesis. Driver genes with tumor-specific amplification-dependent overexpression can be therapeutic targets. In this study, we aimed to identify amplification-dependent driver genes in 1,454 solid tumors, across more than 15 cancer types, by integrative analysis of gene expression and copy number. Amplification-dependent overexpression of 64 known driver oncogenes were found in 587 tumors (40%); genes frequently observed were MYC (25%) and MET (18%) in colorectal cancer; SKP2 (21%) in lung squamous cell carcinoma; HIST1H3B (19%) and MYCN (13%) in liver cancer; KIT (57%) in gastrointestinal stromal tumors; and FOXL2 (12%) in squamous cell carcinoma across tissues...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28347743/transcription-of-cyp19a1-is-directly-regulated-by-sf-1-in-the-theca-cells-of-ovary-follicles-in-chicken
#20
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
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