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https://www.readbyqxmd.com/read/28096900/ms_histonedb-a-manually-curated-resource-for-proteomic-analysis-of-human-and-mouse-histones
#1
Sara El Kennani, Annie Adrait, Alexey K Shaytan, Saadi Khochbin, Christophe Bruley, Anna R Panchenko, David Landsman, Delphine Pflieger, Jérôme Govin
BACKGROUND: Histones and histone variants are essential components of the nuclear chromatin. While mass spectrometry has opened a large window to their characterization and functional studies, their identification from proteomic data remains challenging. Indeed, the current interpretation of mass spectrometry data relies on public databases which are either not exhaustive (Swiss-Prot) or contain many redundant entries (UniProtKB or NCBI). Currently, no protein database is ideally suited for the analysis of histones and the complex array of mammalian histone variants...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28095480/inference-of-candidate-germline-mutator-loci-in-humans-from-genome-wide-haplotype-data
#2
Cathal Seoighe, Aylwyn Scally
The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic region linked to the affected locus, characterized by a number of haplotypes with a locally high proportion of derived alleles, against a background of haplotypes carrying a typical proportion of derived alleles...
January 17, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28089693/effects-of-six-priority-controlled-phthalate-esters-with-long-term-low-dose-integrated-exposure-on-male-reproductive-toxicity-in-rats
#3
Hai-Tao Gao, Run Xu, Wei-Xin Cao, Liang-Liang Qian, Min Wang, Lingeng Lu, Qian Xu, Shu-Qin Yu
Human beings are inevitably exposed to ubiquitous phthalate esters (PEs) surroundings. The purposes of this study were to investigate the effects of long-term low-dose exposure to the mixture of six priority controlled phthalate esters (MIXPs): dimethyl phthalate (DMP), diethyl phthalate (DEP), di(n-butyl) phthalate (DBP), butyl benzyl phthalate (BBP), di(2-ethyhexyl) phthalate (DEHP) and di-n-octyl phthalate (DNOP), on male rat reproductive system and further to explore the underlying mechanisms of the reproductive toxicity...
January 12, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28079292/germ-cell-tumors-insights-from-the-drosophila-ovary-and-the-mouse-testis
#4
REVIEW
Helen K Salz, Emily P Dawson, Jason D Heaney
Ovarian and testicular germ cell tumors of young adults are thought to arise from defects in germ cell development, but the molecular mechanisms underlying malignant transformation are poorly understood. In this review, we focus on the biology of germ cell tumor formation in the Drosophila ovary and the mouse testis, for which the evidence supports common underlying mechanisms such as blocking initiation into the differentiation pathway, impaired lineage progression, and sexual identity instability. We then discuss how these concepts inform our understanding of the disease in humans...
January 12, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28073973/human-foetal-ovary-shares-meiotic-preventing-factors-with-the-developing-testis
#5
Nelly Frydman, Marine Poulain, Brahim Arkoun, Clotilde Duquenne, Sophie Tourpin, Sébastien Messiaen, René Habert, Virginie Rouiller-Fabre, Alexandra Benachi, Gabriel Livera
STUDY QUESTION: How can pre-meiotic germ cells persist in the human foetal ovary? SUMMARY ANSWER: Numerous oogonia escaping meiotic entry were retrieved throughout human ovarian development simultaneously with the expression of signalling pathways preventing meiosis, typically described in the rodent embryonic testis. WHAT IS KNOWN ALREADY: The transition from mitosis to meiosis is a key event in female germ cells that remains poorly documented in research on the human ovary...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28057305/stem-cell-based-tumorigenesis-in-adult-drosophila
#6
S X Hou, S R Singh
Recent studies suggest that a small subset of cells within a tumor, the so-called cancer stem cells (CSCs), are responsible for tumor propagation, relapse, and the eventual death of most cancer patients. CSCs may derive from a few tumor-initiating cells, which are either transformed normal stem cells or reprogrammed differentiated cells after acquiring initial cancer-causing mutations. CSCs and normal stem cells share some properties, but CSCs differ from normal stem cells in their tumorigenic ability. Notably, CSCs are usually resistant to chemo- and radiation therapies...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28053928/synaptonemal-complex-protein-3-transcript-analysis-in-breast-cancer
#7
Maryam Beigom Mobasheri, Reza Shirkoohi, Mohammad Hossein Modarressi
BACKGROUND: Breast cancer is the most frequent cancer in women. Cancer/Testis antigens are immunogenic proteins ectopically expressed in human neoplasms. Synaptonemal complex protein 3 (SYCP3) belongs to cancer/testis genes family involved in meiotic events and spermatogenesis. The aim of this study was to express analysis of SYCP3 in breast cancer and validate it as a breast cancer biomarker. METHODS: Expression of SYCP3 transcripts in 47 breast tumors, 6 breast cancer cell lines (MCF7, SKBR3, T47D, BT474, MDA-MB-231 and MDA-MB 468), 5 normal breast and 2 testis tissues was studied by Real Time RT-PCR reaction...
December 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28045957/normal-levels-of-sox9-expression-in-the-developing-mouse-testis-depend-on-the-tes-tesco-enhancer-but-this-does-not-act-alone
#8
Nitzan Gonen, Alexander Quinn, Helen C O'Neill, Peter Koopman, Robin Lovell-Badge
During mouse sex determination, transient expression of the Y-linked gene Sry up-regulates its direct target gene Sox9, via a 3.2 kb testis specific enhancer of Sox9 (TES), which includes a core 1.4 kb element, TESCO. SOX9 activity leads to differentiation of Sertoli cells, rather than granulosa cells from the bipotential supporting cell precursor lineage. Here, we present functional analysis of TES/TESCO, using CRISPR/Cas9 genome editing in mice. Deletion of TESCO or TES reduced Sox9 expression levels in XY fetal gonads to 60 or 45% respectively relative to wild type gonads, and reduced expression of the SOX9 target Amh...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28045098/effects-of-elevated-%C3%AE-estradiol-levels-on-the-functional-morphology-of-the-testis-new-insights
#9
Myles Leavy, Matthias Trottmann, Bernhard Liedl, Sven Reese, Christian Stief, Benjamin Freitag, John Baugh, Giulio Spagnoli, Sabine Kölle
Elevated estradiol levels are correlated with male infertility. Causes of hyperestrogenism include diseases of the adrenal cortex, testis or medications affecting the hypothalamus-pituitary-gonadal axis. The aim of our study was to elucidate the effects of estradiol treatment on testicular cellular morphology and function, with reference to the treatment regimen received. Testes samples (n = 9) were obtained post-orchiectomy from male-to-female transsexuals within the age range of 26-52 years. Each patient had a minimum of 1-6 years estradiol treatment...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28042025/androgen-receptor-regulation-by-histone-methyltransferase-suppressor-of-variegation-3-9-homolog-2-andmelanomaantigen-a11
#10
Emily B Askew, Suxia Bai, Amanda B Parris, John T Minges, Elizabeth M Wilson
Androgen receptor (AR) transcriptional activity depends on interactions between the AR NH2-terminal region and transcriptional coregulators. A yeast two-hybrid screen of a human testis library using predicted α-helical NH2-terminal fragment AR-(370-420) as bait identified suppressor of variegation 3-9 homolog 2 (SUV39H2) histone methyltransferase as an AR interacting protein. SUV39H2 interaction with AR and the AR coregulator, melanoma antigen-A11 (MAGE-A11), was verified in two-hybrid, in vitro glutathione S-transferase affinity matrix and coimmunoprecipitation assays...
December 29, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28040413/in-search-of-an-improved-injection-technique-for-the-clinical-application-of-spermatogonial-stem-cell-transplantation
#11
Katrien Faes, Tony Lahoutte, Anne Hoorens, Herman Tournaye, Ellen Goossens
When fertility is impaired by anticancer treatment, spermatogonial stem cell transplantation (SSCT) could be used as a fertility restoration technique later on in life. Previously, we have demonstrated that a testicular cell suspension could be injected into a human cadaver testis, however, leakage to the interstitium was observed. In this study, injection of mouse testicular cells at an injection height of 50 cm (hydrostatic pressure) or via an automated injection pump (1400 µl, 2600 µl and 3000 µl) was evaluated...
December 15, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28033664/why-boys-will-be-boys-and-girls-will-be-girls-human-sex-development-and-its-defects
#12
REVIEW
Wassim Eid, Anna Biason-Lauber
Among the most defining events of an individual's life, is the development of a human embryo into male or a female. The phenotypic sex of an individual depends on the type of gonad that develops in the embryo, a process which itself is determined by the genetic setting of the individual. The development of the gonads is different from any other organ, as they possess the potential to differentiate into two functionally distinct organs, testes, or ovaries. Sex development can be divided into two distinctive processes, "sex determination," which is the commitment of the undifferentiated gonad into either a testis or an ovary, a process that is genetically programmed in a critically timed manner and "sex differentiation," which takes place through hormones produced by the gonads, once the developmental sex determination decision has been made...
December 2016: Birth Defects Research. Part C, Embryo Today: Reviews
https://www.readbyqxmd.com/read/28017656/primary-human-testicular-cells-self-organize-into-organoids-with-testicular-properties
#13
Yoni Baert, Joery De Kock, João P Alves-Lopes, Olle Söder, Jan-Bernd Stukenborg, Ellen Goossens
So far, successful de novo formation of testicular tissue followed by complete spermatogenesis in vitro has been achieved only in rodents. Our findings reveal that primary human testicular cells are able to self-organize into human testicular organoids (TOs), i.e., multi-cellular tissue surrogates, either with or without support of a biological scaffold. Despite lacking testis-specific topography, these mini-tissues harbored spermatogonia and their important niche cells, which retained specific functionalities during long-term culture...
January 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28008861/delayed-diagnosis-of-a-17-hydroxylase-17-20-lyase-deficient-case-presented-with-46-xy-female-low-normal-potassium-can-alert-clinician
#14
Emine Çamtosun, Zeynep Şıklar, Serdar Ceylaner, Pınar Kocaay, Merih Berberoğlu
17-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive defect in adrenal and gonadal steroidogenesis, causes absence of secondary sexual characteristics frequently associated with hypertension and hyperkalemia. Here we report a 46, XY case, who had normal potassium levels and without hypertension. Here we present a 2,5 years old female admitted with female external genitalia and inguinal swelling. Pathology of biopsy revealed that this gonad is a testis. Karyotype was 46, XY. She had no hypertension and no hypokalemia...
December 23, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27993670/interactome-of-the-inhibitory-isoform-of-the-nuclear-transporter-importin-13
#15
Shadma Fatima, Kylie M Wagstaff, Kim G Lieu, Rebecca G Davies, Satomi S Tanaka, Yasuka L Yamaguchi, Kate L Loveland, Patrick P L Tam, David A Jans
Importin 13 (Imp13) is a bidirectional nuclear transporter of proteins involved in a range of important cellular processes, with an N-terminally truncated inhibitory isoform (tImp13) specifically expressed in testis. To gain insight into tImp13 function, we performed a yeast-2-hybrid screen from a human testis cDNA library, identifying for the first time a suite of interactors with roles in diverse cellular process. We validated the interaction of tImp13 with Eukaryotic translation initiation factor 4γ2 (EIF4G2) and High mobility group containing protein 20A (HMG20A), benchmarking that with glucocorticoid receptor (GR), a known Imp13 interactor expressed in testis...
December 16, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27992841/structural-analyses-of-the-nucleosome-complexes-with-human-testis-specific-histone-variants-hth2a-and-hth2b
#16
Sivaraman Padavattan, Viswanathan Thiruselvam, Toshie Shinagawa, Kazuya Hasegawa, Takashi Kumasaka, Shunsuke Ishii, Thirumananseri Kumarevel
Th2a and Th2b are the testis-specific histone variants highly expressed during spermatogenesis. Approximately 4% of the genome is retained in nucleosomes in mature human sperm, which is enriched at loci of developmental importance. Our recent studies revealed that the mouse histone variant homologs TH2a and TH2b are involved in reprogramming. In the present work, we report three nucleosome structures (NCPs) with human testis-specific histone variants hTh2a and hTh2b, [hGcH (hTh2a-hTh2b-H3-H4), hGcHV1 (hTh2a-H2b-H3-H4) and hGcHV2 (H2a-hTh2b-H3-H4)] and a 146-base pair (bp) duplex DNA fragment at ~3...
February 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/27992447/heat-sensing-receptor-trpv1-is-a-mediator-of-thermotaxis-in-human-spermatozoa
#17
Luca De Toni, Andrea Garolla, Massimo Menegazzo, Sabina Magagna, Andrea Di Nisio, Iva Šabović, Maria Santa Rocca, Valentina Scattolini, Andrea Filippi, Carlo Foresta
The molecular bases of sperm thermotaxis, the temperature-oriented cell motility, are currently under investigation. Thermal perception relies on a subclass of the transient receptor potential [TRP] channels, whose member TRPV1 is acknowledged as the heat sensing receptor. Here we investigated the involvement of TRPV1 in human sperm thermotaxis. We obtained semen samples from 16 normozoospermic subjects attending an infertility survey programme, testis biopsies from 6 patients with testicular germ cell cancer and testis fine needle aspirates from 6 patients with obstructive azoospermia undergoing assisted reproductive technologies...
2016: PloS One
https://www.readbyqxmd.com/read/27992363/germ-cell-specific-sustained-activation-of-wnt-signalling-perturbs-spermatogenesis-in-aged-mice-possibly-through-non-coding-rnas
#18
Manish Kumar, Joshua Atkins, Murray Cairns, Ayesha Ali, Pradeep S Tanwar
Dysregulated Wnt signalling is associated with human infertility and testicular cancer. However, the role of Wnt signalling in male germ cells remains poorly understood. In this study, we first confirmed the activity of Wnt signalling in mouse, dog and human testes. To determine the physiological importance of the Wnt pathway, we developed a mouse model with germ cell-specific constitutive activation of βcatenin. In young mutants, similar to controls, germ cell development was normal. However, with age, mutant testes showed defective spermatogenesis, progressive germ cell loss, and flawed meiotic entry of spermatogonial cells...
December 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27990638/calretinin-immunoreactivity-in-the-human-testis-throughout-fetal-life
#19
Giovanna G Altobelli, Francesca Pentimalli, Mariarosaria D'armiento, Susan Van Noorden, Vincenzo Cimini
The main functions of the testis are sex hormone and sperm cell production. Steroidogenesis occurs in the Leydig interstitial cells and spermatogenesis in the seminiferous tubules. Male gonad morphogenesis is a finely orchestrated process, mainly coordinated by hormones, whose actions can significantly affect post-pubertal testicular function. Calcium is a key intracellular messenger, which regulates many signal transduction pathways, and is also implicated in steroidogenesis. Calcium homeostasis and signaling rely on many calcium-binding proteins including calretinin, of the "EF-hand" protein family...
December 19, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27958373/identification-and-characterization-of-human-testis-derived-circular-rnas-and-their-existence-in-seminal-plasma
#20
Wei-Wei Dong, Hui-Min Li, Xing-Rong Qing, Dong-Hui Huang, Hong-Gang Li
Circular RNAs (circRNAs) have emerged as novel molecules of interest in gene regulation as other noncoding RNAs. Though they have been explored in some species and tissues, the expression and functions of circRNAs in human reproductive systems remain unknown. Here we revealed the expression profiles of circRNAs in human testis tissue using high-throughput sequencing. The conformation of these testis-derived circRNAs in seminal plasma was also investigated, aiming to provide a non-invasive liquid biopsy surrogate for testicular biopsy...
December 13, 2016: Scientific Reports
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