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https://www.readbyqxmd.com/read/29419871/-identification-of-de-novo-chromosomal-structural-abnormalities-using-whole-genome-sequencing
#1
Qin Zhang, Jian Ou, Wei Wang, Tao Feng, Chengying Duan, Peipei Li, Chunhua Lin, Hong Li
OBJECTIVE To assess the value of whole genome sequencing for the identification of de novo structural chromosomal abnormalities. METHODS Whole genome sequencing was utilized to analyze a boy with a peripheral blood karyotype of 46,XY,ins(3)(q21p13p21). The patient manifested with ocular abnormalities including blepharophimosis and ptosis. RESULTS Whole genome sequencing suggested a fragmentation of chromosome 3 (from position 55 473 257 to 78 341 929) has been inserted into between 136 876 730 to 138 643 831, and the breakpoints have occurred in the intergenic region...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29415736/uterine-foxl2-regulates-the-adherence-of-the-trophectoderm-cells-to-the-endometrial-epithelium
#2
Michal Elbaz, Ron Hadas, Louise M Bilezikjian, Eran Gershon
BACKGROUND: Forkhead Transcription Factor L2 (FOXL2) is a member of the forkhead family with important roles in reproduction. Recent studies showed that FOXL2 is expressed in human and bovine endometrium and that its levels fluctuate during pregnancy. In this study, we aimed at evaluating the expression and function of FOXL2 in embryo implantation. METHODS: Mouse uteri at different days of pregnancy were isolated and analyzed for the expression and localization of FOXL2...
February 7, 2018: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29409506/the-molecular-mechanism-of-ovarian-granulosa-cell-tumors
#3
REVIEW
Jiaheng Li, Riqiang Bao, Shiwei Peng, Chunping Zhang
Over these years, more and more sex cord-stromal tumors have been reported. Granulosa cell tumor (GCT) is a rare tumor in ovaries, accounts for 2% to 5% of ovarian cancers. The main different feature of GCTs from other ovarian cancers is that GCTs can lead to abnormally secreted hormones (estrogen, inhibin and Müllerian inhibiting substance). The GCT is divided into two categories according to the age of patients, namely AGCT (adult granulosa cell tumor) and JGCT (Juvenile granulosa cell tumor). AGCT patients accounts for 95%...
February 6, 2018: Journal of Ovarian Research
https://www.readbyqxmd.com/read/29378385/novel-foxl2-mutations-cause-blepharophimosis-ptosis-epicanthus-inversus-syndrome-with-premature-ovarian-insufficiency
#4
Xiao-Wen Yang, Wen-Bin He, Fei Gong, Wen Li, Xiu-Rong Li, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. METHODS: We identified two Han Chinese BPES families with premature ovarian insufficiency (POI). Sanger sequencing and in vitro functional analysis were performed to identify the genetic cause. RESULTS: Sanger sequencing identified two novel mutations (c.462_468del, c...
January 29, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29360964/deciphering-the-link-between-doubly-uniparental-inheritance-of-mtdna-and-sex-determination-in-bivalves-clues-from-comparative-transcriptomics
#5
Charlotte Capt, Sébastien Renaut, Fabrizio Ghiselli, Liliana Milani, Nathan A Johnson, Bernard Sietman, Donald T Stewart, Sophie Breton
Bivalves exhibit an astonishing diversity of sexual systems and sex-determining mechanisms. They can be gonochoric, hermaphroditic or androgenetic, with both genetic and environmental factors known to determine or influence sex. One unique sex-determining system involving the mitochondrial genome has also been hypothesized to exist in bivalves with doubly uniparental inheritance (DUI) of mtDNA. However, the link between DUI and sex determination remains obscure. In this study, we performed a comparative gonad transcriptomics analysis for two DUI-possessing freshwater mussel species to better understand the mechanisms underlying sex determination and DUI in these bivalves...
January 19, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29339661/a-novel-foxl2-mutation-implying-blepharophimosis-ptosis-epicanthus-inversus-syndrome-type-i
#6
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study of novel mutations is especially critical for female patients, as it may allow the prediction of infertility and early planning of an appropriate therapy. METHODS: A clinical and molecular genetic investigation was performed in all members of a Chinese family with BPES...
2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29281695/maternal-metabolism-affects-endometrial-expression-of-oxidative-stress-and-foxl2-genes-in-cattle
#7
Audrey Lesage-Padilla, Niamh Forde, Mélanie Poirée, Gareth D Healey, Corinne Giraud-Delville, Pierrette Reinaud, Caroline Eozenou, Anaïs Vitorino Carvalho, Laurent Galio, Mariam Raliou, Jean-François Oudin, Christophe Richard, I Martin Sheldon, Gilles Charpigny, Pat Lonergan, Olivier Sandra
Intensive selection for milk production has led to reduced reproductive efficiency in high-producing dairy cattle. The impact of intensive milk production on oocyte quality as well as early embryo development has been established but few analyses have addressed this question at the initiation of implantation, a critical milestone ensuring a successful pregnancy and normal post-natal development. Our study aimed to determine if contrasted maternal metabolism affects the previously described sensory properties of the endometrium to the conceptus in cattle...
2017: PloS One
https://www.readbyqxmd.com/read/29275930/ovarian-sex-cord-stromal-tumours-an-update-in-recent-molecular-advances
#8
REVIEW
Diana Lim, Esther Oliva
Sex cord-stromal tumours (SCSTs) consist of a heterogeneous group of neoplasms with diverse clinicopathological features and biological behaviour. They often present as a diagnostic challenge as they have varied and occasionally overlapping histomorphology and some may even mimic non-SCSTs. An accurate diagnosis is important for therapeutic and prognostic purposes. The use of a panel of immunohistochemical markers which are sensitive and specific for sex cord-stromal differentiation such as α-inhibin, calretinin, SF-1 and FOXL2, may be helpful in confirming the cellular lineage of these tumours, but is of limited utility in distinguishing between the different tumour types within this category...
December 21, 2017: Pathology
https://www.readbyqxmd.com/read/29250542/comparative-transcriptome-analysis-reveals-related-regulatory-mechanisms-of-androgenic-gland-in-eriocheir-sinensis
#9
Chunpeng Fu, Qifan Zeng, Fajun Li, Huicui Wang, Jian Sun, Hui Wang
Chinese mitten crab (Eriocheir sinensis) is one of the most commercially important aquaculture species in China. The androgenic gland (AG) of crustaceans plays pivotal roles in the regulation of male differentiation and in maintaining the male sexual characteristics. In order to reveal related mechanisms in AG, we compared transcriptomes of AG between proliferation and secretion phase. A total of 72,000 unigenes and 4,027 differentially expressed genes were obtained. Gene ontology enrichment analysis indicated that biological processes and metabolic pathways related to protein synthesis and secretion such as transcription, translation, and signal transduction were significantly enriched...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29221447/disruption-of-postnatal-folliculogenesis-and-development-of-ovarian-tumor-in-a-mouse-model-with-aberrant-transforming-growth-factor-beta-signaling
#10
Yang Gao, Xin Fang, David F Vincent, David W Threadgill, Laurent Bartholin, Qinglei Li
BACKGROUND: Transforming growth factor beta (TGFB) superfamily signaling is implicated in the development of sex cord-stromal tumors, a category of poorly defined gonadal tumors. The aim of this study was to determine potential effects of dysregulated TGFB signaling in the ovary using Cre recombinase driven by growth differentiation factor 9 (Gdf9) promoter known to be expressed in oocytes. METHODS: A mouse model containing constitutively active TGFBR1 (TGFBR1CA) using Gdf9-iCre (termed TGFBR1-CAG9Cre) was generated...
December 8, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29184216/graphene-oxide-enhances-the-specificity-of-the-polymerase-chain-reaction-by-modifying-primer-template-matching
#11
Yuanyuan Wang, Fengbang Wang, Hailin Wang, Maoyong Song
Aiming at improved specificity, nanoparticle assisted polymerase chain reaction (PCR) has been widely studied and shown to improve PCR. However, the reliability and mechanism of this method are still controversial. Here, we demonstrated that 1 μg/mL of graphene oxide (GO) effectively enhances the specificity of the error-prone multi-round PCR. Mismatched primers were designed as interference to produce nonspecific products when the same amounts of matched and mismatched primers were added into semi-multiplex PCR...
November 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29180105/sex-hormone-binding-globulin-b-expression-in-the-rainbow-trout-ovary-prior-to-sex-differentiation
#12
Claudio Pérez, Cristian Araneda, Francisco Estay, Nelson F Díaz, Denise Vizziano-Cantonnet
Salmonids have two sex hormone-binding globulin (Shbg) paralogs. Shbga is mainly expressed in the liver, while Shbgb is secreted by the granulosa cells of the rainbow trout ovary. Coexpression of shbgb and the gonadal aromatase cyp19a1a mRNAs been observed in granulosa cells, suggesting a physiological coordination between Shbgb expression and estrogen synthesis. As estrogens are essential for female sex determination in the fish ovary, we propose that Shbgb participates in early ovarian differentiation, either by binding with estrogen or through another mechanism that remains to be discovered...
November 24, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/29164452/identification-of-suh-gene-and-evidence-for-involvement-of-notch-signaling-pathway-on-gonadal-differentiation-of-yellow-river-carp-cyprinus-carpio
#13
Yongfang Jia, Fang Wang, Ruihua Zhang, Tingting Liang, WanWan Zhang, Xiaolin Ji, Qiyan Du, Zhongjie Chang
The suh gene is crucial in Notch pathway and regulates mammalian gonad development. In this study, the sequences of suh1 and suh2 genes in Yellow River carp (Cyprinus carpio) were verified. The partial 5'-flanking regions of suh1 and suh2 were analyzed and several potential transcription factor-binding sites were identified. Phylogenetic, gene structure, and chromosome synteny analyses revealed that carp suh1 and suh2 were orthologs and homologous to vertebrate suh. Investigation of the expression profiles of suh1 and suh2 with qPCR showed that these genes were abundant in the brain and gonad of carp, with suh1 exhibiting sexual dimorphism expression pattern in gonad...
November 21, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/29162857/temporal-expression-pattern-of-genes-during-the-period-of-sex-differentiation-in-human-embryonic-gonads
#14
Linn S Mamsen, Emil H Ernst, Rehannah Borup, Agnete Larsen, Rasmus H Olesen, Erik Ernst, Richard A Anderson, Stine G Kristensen, Claus Y Andersen
The precise timing and sequence of changes in expression of key genes and proteins during human sex-differentiation and onset of steroidogenesis was evaluated by whole-genome expression in 67 first trimester human embryonic and fetal ovaries and testis and confirmed by qPCR and immunohistochemistry (IHC). SRY/SOX9 expression initiated in testis around day 40 pc, followed by initiation of AMH and steroidogenic genes required for androgen production at day 53 pc. In ovaries, gene expression of RSPO1, LIN28, FOXL2, WNT2B, and ETV5, were significantly higher than in testis, whereas GLI1 was significantly higher in testis than ovaries...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29131109/histological-assessment-of-gonads-in-dsd-relevance-for-clinical-management
#15
Johannes A Spoor, J Wolter Oosterhuis, Remko Hersmus, Katharina Biermann, Katja P Wolffenbuttel, Martine Cools, Zainab Kazmi, Syed F Ahmed, Leendert H J Looijenga
Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a 'genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions...
November 3, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29060929/microrna-937-inhibits-cell-proliferation-and-metastasis-in-gastric-cancer-cells-by-downregulating-foxl2
#16
Liang Yu, Jun Chen, Yu Liu, Zengfeng Zhang, Shaobin Duan
BACKGROUND: Despite advancement in the treatment, the mortality of gastric cancer remains high. MicroRNAs (miRNAs) are involved in tumor development and progression by regulating signaling pathways. In this study, we investigated the role of miR-937 in gastric cancer cells. METHODS: MiR-937 expression was determined in gastric cancer and matched normal tissues, and human gastric cancer cell lines by quantitative real-time PCR (qRT-PCR). Effects of miR-937 on cell proliferation, migration and invasion were analyzed by MTT and Transwell assays, respectively...
October 13, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/29044994/characterization-and-expression-pattern-of-r-spondin1-in-cynoglossus-semilaevis
#17
Hailong Li, Wenteng Xu, Ying Zhu, Ning Zhang, Jialu Ma, Ai Sun, Zhongkai Cui, Fengtao Gao, Na Wang, Changwei Shao, Zhongdian Dong, Yangzhen Li
r-spondin1 (rspo1) encodes a secreted protein that is involved in the determination and differentiation of the mammalian ovary. However, little information is yet available for teleosts. Here, we identified a homologue of rspo1 in Cynoglossus semilaevis. The full-length cDNA of rspo1 had a length of 2,703 bp with an open reading frame of 834 bp, encoding a protein with a length of 277 amino-acids. rspo1 expression was detected via qRT-PCR in various tissues, and significant sexually dimorphic expression was observed in the gonads...
October 17, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28963671/dimorphic-expression-of-sex-related-genes-in-different-gonadal-development-stages-of-sterlet-acipenser-ruthenus-a-primitive-fish-species
#18
Wei Wang, Hua Zhu, Ying Dong, ZhaoHui Tian, Tian Dong, HongXia Hu, CuiJuan Niu
Molecular mechanism of sex determination and differentiation of sturgeon, a primitive fish species, is extraordinarily important due to the valuable caviar; however, it is still poorly known. The present work aimed to identify the major genes involved in regulating gonadal development of sterlet, a small species of sturgeon, from 13 candidate genes which have been shown to relate to gonadal differentiation and development in other teleost fish. The sex and gonadal development of sterlets were determined by histological observation and levels of sex steroids testosterone (T), 11-ketotestosterone (11-KT), and 17β-estradiol (E2) in serum...
December 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28962924/comparative-transcriptome-analysis-of-ovary-and-testis-reveals-potential-sex-related-genes-and-pathways-in-spotted-knifejaw-oplegnathus-punctatus
#19
Xinxin Du, Bo Wang, Xiumei Liu, Xiaobing Liu, Yan He, Quanqi Zhang, Xubo Wang
The spotted knifejaw (Oplegnathus punctatus) is a newly emerging fishery species inhabiting the Pacific Ocean around Hawaii, China, Japan and Korean Peninsula. Little information on the mechanism of gonadal development and gametogenesis in this species could be used for research and breeding work. In this study, RNA-seq technology was applied to generate a deep-coverage sequencing data of spotted knifejaw testis and ovary. A total of 262,392,754 reads (ovary 133,403,270, testis 128,989,484) were generated from the cDNA library...
December 30, 2017: Gene
https://www.readbyqxmd.com/read/28938467/testis-determination-requires-a-specific-fgfr2-isoform-to-repress-foxl2
#20
Stefan Bagheri-Fam, Anthony D Bird, Liang Zhao, Janelle M Ryan, Meiyun Yong, Dagmar Wilhelm, Peter Koopman, Veraragavan P Eswarakumar, Vincent R Harley
Male sex determination in mammals relies on sex determining region Y-mediated upregulation of sex determining region-box 9 (SOX9) expression in XY gonads, whereas Wnt family member (WNT)/R-spondin 1 signaling and forkhead box L2 (FOXL2) drive female sex determination in XX gonads. Fibroblast growth factor (FGF) 9 signaling ensures sustained SOX9 expression through repression of one of the ovarian pathways (WNT signaling), whereas the significance of FGF-mediated repression of the FOXL2 pathway has not been studied...
November 1, 2017: Endocrinology
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