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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
Elo Madissoon, Eeva-Mari Jouhilahti, Liselotte Vesterlund, Virpi Töhönen, Kaarel Krjutškov, Sophie Petropoulous, Elisabet Einarsdottir, Sten Linnarsson, Fredrik Lanner, Robert Månsson, Outi Hovatta, Thomas R Bürglin, Shintaro Katayama, Juha Kere
PAIRED (PRD)-like homeobox genes belong to a class of predicted transcription factor genes. Several of these PRD-like homeobox genes have been predicted in silico from genomic sequence but until recently had no evidence of transcript expression. We found recently that nine PRD-like homeobox genes, ARGFX, CPHX1, CPHX2, DPRX, DUXA, DUXB, NOBOX, TPRX1 and TPRX2, were expressed in human preimplantation embryos. In the current study we characterized these PRD-like homeobox genes in depth and studied their functions as transcription factors...
2016: Scientific Reports
Kathryn J Grive, Eric A Gustafson, Kimberly A Seymour, Melody Baddoo, Christoph Schorl, Kayla Golnoski, Aleksandar Rajkovic, Alexander S Brodsky, Richard N Freiman
TAF4b is a gonadal-enriched subunit of the general transcription factor TFIID that is implicated in promoting healthy ovarian aging and female fertility in mice and humans. To further explore the potential mechanism of TAF4b in promoting ovarian follicle development, we analyzed global gene expression at multiple time points in the human fetal ovary. This computational analysis revealed coordinate expression of human TAF4B and critical regulators and effectors of meiosis I including SYCP3, YBX2, STAG3, and DAZL...
June 2016: PLoS Genetics
Lihua Zhao, Xinhua Du, Kun Huang, Tuo Zhang, Zhen Teng, Wanbao Niu, Chao Wang, Guoliang Xia
The size of the primordial follicle pool determines the reproductive potential of mammalian females, and establishment of the pool is highly dependent on specific genes expression. However, the molecular mechanisms by which the essential genes are regulated coordinately to ensure primordial follicle assembly remain a mystery. Here, we show that the small GTPase Rac1 plays an indispensable role in controlling the formation of primordial follicles in mouse ovary. Employing fetal mouse ovary organ culture system, we demonstrate that disruption of Rac1 retarded the breakdown of germline cell cysts while Rac1 overexpression accelerated the formation of primordial follicles...
2016: Scientific Reports
N Bouali, B Francou, J Bouligand, B Lakhal, I Malek, M Kammoun, J Warszawski, S Mougou, A Saad, A Guiochon-Mantel
Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem...
May 2016: Clinical Genetics
Zhen Teng, Chao Wang, Yijing Wang, Kun Huang, Xi Xiang, Wanbao Niu, Lizhao Feng, Lihua Zhao, Hao Yan, Hua Zhang
The reserve of primordial follicles determines the reproductive ability of the female mammal over its reproductive life. The primordial follicle is composed of two types of cells: oocytes and surrounding pre-granulosa cells. However, the underlying mechanism regulating primordial follicle assembly is largely undefined. In this study, we found that gap junction communication (GJC) established between the ovarian cells in the perinatal mouse ovary may be involved in the process. First, gap junction structures between the oocyte and surrounding pre-granulosa cells appear at about 19...
February 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
Yingying Qin, Xue Jiao, Joe Leigh Simpson, Zi-Jiang Chen
BACKGROUND: Primary ovarian insufficiency (POI) is characterized by marked heterogeneity, but with a significant genetic contribution. Identifying exact causative genes has been challenging, with many discoveries not replicated. It is timely to take stock of the field, outlining the progress made, framing the controversies and anticipating future directions in elucidating the genetics of POI. METHODS: A search for original articles published up to May 2015 was performed using PubMed and Google Scholar, identifying studies on the genetic etiology of POI...
November 2015: Human Reproduction Update
Yu Ren, Hitomi Suzuki, Krishna Jagarlamudi, Kayla Golnoski, Megan McGuire, Rita Lopes, Vassilis Pachnis, Aleksandar Rajkovic
BACKGROUND: The early stages of ovarian follicle formation-beginning with the breakdown of germ cell cysts and continuing with the formation of primordial follicles and transition to primary and secondary follicles-are critical in determining reproductive life span and fertility. Previously, we discovered that global knockouts of germ cell-specific transcriptional co-regulators Sohlh1, Sohlh2, Lhx8, and Nobox, cause rapid oocyte loss and ovarian failure. Also factors such as Nobox and Sohlh1 are associated with human premature ovarian failure...
2015: BMC Biology
Songna Yin, Chao Song, Haibo Wu, Xin Chen, Yong Zhang
Reproductive toxicity has been an exciting topic of research in reproductive biology in recent years. Soluble fluoride salts are toxic at high concentrations; their reproductive toxicity was assessed in this study by administering different fluoride salt concentrations to mice. Continuous feeding for five weeks resulted in damage to the histological architecture of ovaries. The expression of genes, including Dazl, Stra8, Nobox, Sohlh1, and ZP3 gene, associated with oocyte formation were much lower in the experimental group as compared with the control group...
2015: PloS One
Tianyanxin Sun, Melissa E Pepling, Francisco J Diaz
The Hippo signaling pathway is essential for regulating proliferation and apoptosis in mammalian cells. The LATS1 kinase is a core member of the Hippo signaling pathway that phosphorylates and inactivates the transcriptional co-activators YAP1 and WWTR1. Deletion of Lats1 results in low neonate survival and ovarian stromal tumors in surviving adults, but the effects of Lats1 on early follicular development are not understood. Here, the expression of Hippo pathway components including Wwtr1, Stk4, Stk3, Lats2, and Yap1 transcripts were decreased by 50% in mouse ovaries between 2 and 8 days of age while expression was maintained from 8 days to 21 days and after priming with eCG...
July 2015: Biology of Reproduction
Yuma Yamashita, Teppei Nakamura, Saori Otsuka-Kanazawa, Osamu Ichii, Yasuhiro Kon
In perinatal mice, the ovary undergoes drastic morphological changes, as clusters of oocytes called nests break into smaller cysts and subsequently form individual follicles. We studied perinatal oocyte development in MRL/MpJ mice, and compared it to that observed in C57BL/6 mice between embryonic day 18.5 and postnatal day 4. Throughout the observation period, compared to C57BL/6 mice, MRL/MpJ mice displayed significantly fewer oocytes in their ovaries. Morphologically, there were no clear differences between the strains at embryonic day 18...
February 2015: Japanese Journal of Veterinary Research
Rosemary A L Bayne, Hazel L Kinnell, Shiona M Coutts, Jing He, Andrew J Childs, Richard A Anderson
During human fetal ovary development, the process of primordial follicle formation is immediately preceded by a highly dynamic period of germ cell and somatic cell reorganisation. This is regulated by germ-cell specific transcription regulators, by the conserved RNA binding proteins DAZL and BOLL and by secreted growth factors of the TGFβ family, including activin βA: these all show changing patterns of expression preceding follicle formation. In mice, the transcription factor Nobox is essential for follicle formation and oocyte survival, and NOBOX regulates the expression of GDF9 in humans...
2015: PloS One
Justine Bouilly, Florence Roucher-Boulez, Anne Gompel, Hélène Bry-Gauillard, Kemal Azibi, Cherif Beldjord, Catherine Dodé, Jérôme Bouligand, Anne Guiochon Mantel, Annie-Claude Hécart, Brigitte Delemer, Jacques Young, Nadine Binart
CONTEXT: Primary ovarian insufficiency (POI) is a major cause of anovulation and infertility in women. This disease affects 1% of women before 40 years, and several genetic causes have been reported. OBJECTIVE: The aim of the study was to evaluate the prevalence of NOBOX mutations in a new large cohort of women with POI and to characterize these variants and identify a NOBOX novel target gene. PATIENTS AND METHODS: A total of 213 unrelated patients with POI were screened for NOBOX mutations, and luciferase reporter assays were performed for the mutations identified...
March 2015: Journal of Clinical Endocrinology and Metabolism
Kseniya V Shishova, Elena A Lavrentyeva, Jurek W Dobrucki, Olga V Zatsepina
It is well known that fully-grown mammalian oocytes, rather than typical nucleoli, contain prominent but structurally homogenous bodies called "nucleolus-like bodies" (NLBs). NLBs accumulate a vast amount of material, but their biochemical composition and functions remain uncertain. To clarify the composition of the NLB material in mouse GV oocytes, we devised an assay to detect internal oocyte proteins with fluorescein-5-isothiocyanate (FITC) and applied the fluorescent RNA-binding dye acridine orange to examine whether NLBs contain RNA...
January 15, 2015: Developmental Biology
Raja Brauner, Sophie Pierrepont, Joelle Bignon-Topalovic, Ken McElreavey, Anu Bashamboo
UNLABELLED: The cause of the primary ovarian insufficiency (POI) remains unknown in the majority of cases. A retrospective study was carried out in 17 girls with POI and normal 46,XX karyotype evaluated before 20 years of age. The etiology of POI was determined in eight girls (group 1) and remained idiopathic in nine girls (group 2). In group 1, five patients had a medical history: cerebellar ataxia due to congenital disorder of glycosylation (CDG) 1 in three cases, mitochondrial disease in one case, and autoimmune deficiencies in one case...
June 2015: European Journal of Pediatrics
Linlin Pan, Wei Gong, Yuanyuan Zhou, Xiaonuan Li, Jun Yu, Songnian Hu
Ovary development is a complex process involving numerous genes. A well-developed ovary is essential for females to keep fertility and reproduce offspring. In order to gain a better insight into the molecular mechanisms related to the process of mammalian ovary development, we performed a comparative transcriptomic analysis on ovaries isolated from infant and adult mice by using next-generation sequencing technology (SOLiD). We identified 15,454 and 16,646 transcriptionally active genes at the infant and adult stage, respectively...
October 2014: Genomics, Proteomics & Bioinformatics
Chao-Shun Yang, Kung-Yen Chang, Tariq M Rana
Although transcriptome analysis can uncover the molecular changes that occur during induced reprogramming, the functional requirements for a given factor during stepwise cell-fate transitions are left unclear. Here, we used a genome-wide RNAi screen and performed integrated transcriptome analysis to identify key genes and cellular events required at the transition steps in reprogramming. Genes associated with cell signaling pathways (e.g., Itpr1, Itpr2, and Pdia3) constitute the major regulatory networks before cells acquire pluripotency...
July 24, 2014: Cell Reports
A Norling, A L Hirschberg, K A Rodriguez-Wallberg, E Iwarsson, A Wedell, M Barbaro
STUDY QUESTION: Can high-resolution array comparative genomic hybridization (CGH) analysis of DNA samples from women with primary ovarian insufficiency (POI) improve the diagnosis of the condition and identify novel candidate genes for POI? SUMMARY ANSWER: A mutation affecting the regulatory region of growth differentiation factor 9 (GDF9) was identified for the first time together with several novel candidate genes for POI. WHAT IS KNOWN ALREADY: Most patients with POI do not receive a molecular diagnosis despite a significant genetic component in the pathogenesis...
August 2014: Human Reproduction
Dongmei Lai, Fangyuan Wang, Zhangli Dong, Qiuwan Zhang
Skin-derived mesenchymal stem cells (SMSCs) can differentiate into the three embryonic germ layers. For this reason, they are considered a powerful tool for therapeutic cloning and offer new possibilities for tissue therapy. Recent studies showed that skin-derived stem cells can differentiate into cells expressing germ-cell specific markers in vitro and form oocytes in vivo. The idea that SMSCs may be suitable for the treatment of intractable diseases or traumatic tissue damage has attracted attention. To determine the ability of SMSCs to reactivate injured ovaries, a mouse model with ovaries damaged by busulfan and cyclophosphamide was developed and is described here...
2014: PloS One
Paul A Fowler, Andrew J Childs, Frédérique Courant, Alasdair MacKenzie, Stewart M Rhind, Jean-Philippe Antignac, Bruno Le Bizec, Panagiotis Filis, Fergus Evans, Samantha Flannigan, Abha Maheshwari, Siladitya Bhattacharya, Ana Monteiro, Richard A Anderson, Peter J O'Shaughnessy
STUDY QUESTION: How does maternal cigarette smoking disturb development of the human fetal ovary? SUMMARY ANSWER: Maternal smoking increases fetal estrogen titres and dysregulates several developmental processes in the fetal ovary. WHAT IS KNOWN ALREADY: Exposure to maternal cigarette smoking during gestation reduces human fetal ovarian cell numbers, germ cell proliferation and subsequent adult fecundity. STUDY DESIGN, SIZE, DURATION: The effects of maternal cigarette smoking on the second trimester human fetal ovary, fetal endocrine signalling and fetal chemical burden were studied...
July 2014: Human Reproduction
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