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X inactivation

Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
Undraga Schagdarsurengin, Lisa M Teuchert, Christina Hagenkötter, Nils Nesheim, Temuujin Dansranjavin, Hans-Christian Schuppe, Sabrina Gies, Adrian Pilatz, Wolfgang Weidner, Florian M E Wagenlehner
: Background/Aims/Objectives: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) has detrimental effects on the quality of life including the aspect of sexual dysfunction. The aim of the study was to identify if there was an adverse effect on the male genital compartment and if there are systemic or compartment-specific local signals for epigenetic dysregulation of inflammatory factors in CP/CPPS patients. METHODS: One hundred five NIH IIIb CP/CPPS patients and 41 healthy men were recruited and underwent investigations of urines, semen and blood...
October 20, 2016: Urologia Internationalis
Hai-Qiang Dai, Bang-An Wang, Lu Yang, Jia-Jia Chen, Guo-Chun Zhu, Mei-Ling Sun, Hao Ge, Rui Wang, Deborah L Chapman, Fuchou Tang, Xin Sun, Guo-Liang Xu
Mammalian genomes undergo epigenetic modifications, including cytosine methylation by DNA methyltransferases (DNMTs). Oxidation of 5-methylcytosine by the Ten-eleven translocation (TET) family of dioxygenases can lead to demethylation. Although cytosine methylation has key roles in several processes such as genomic imprinting and X-chromosome inactivation, the functional significance of cytosine methylation and demethylation in mouse embryogenesis remains to be fully determined. Here we show that inactivation of all three Tet genes in mice leads to gastrulation phenotypes, including primitive streak patterning defects in association with impaired maturation of axial mesoderm and failed specification of paraxial mesoderm, mimicking phenotypes in embryos with gain-of-function Nodal signalling...
October 19, 2016: Nature
Indhu-Shree Rajan-Babu, Samuel S Chong
Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of polymerase chain reaction (PCR) and Southern blot (SB) for the fragile X mental retardation 1 (FMR1) CGG-repeat expansion and methylation analyses. Recent advancements in PCR-based technologies have enabled the characterization of the complete spectrum of CGG-repeat mutation, with or without methylation assessment, and, as a result, have reduced our reliance on the labor- and time-intensive SB, which is the gold standard FXS diagnostic test...
October 14, 2016: Genes
Geber Pena, Christina Michalski, Yong Qin, Robert Donnelly, Ziad Sifri, Anne Mosenthal, David Livingston, Zoltan Spolarics
Sex-related outcome disparities following severe trauma have been demonstrated in human and animal studies however sex hormone status could not fully account for the differences. This study tested whether X-linked cellular mosaicism, which is unique to females, could represent a genetically based mechanism contributing to sex-related immuno-modulation following trauma. Serial blood samples collected for routine laboratory tests were analyzed for ChrX inactivation (XCI) ratios in white blood cells. 39 severely injured (mean ISS 19) female trauma patients on mixed racial and ethnic background were tested for initial (baseline) and trauma-induced changes in XCI-ratios and their associations with severity of injury and clinical outcome...
September 29, 2016: Shock
Ji Eun Park, Byoungduck Park, In Gyeong Chae, Do-Hee Kim, Juthika Kundu, Joydeb Kumar Kundu, Kyung-Soo Chun
After carefully checking the original data of ROS generation experiment, we found that in Fig. 3E the x-axis was incorrently labeled. ISL should be substituted with CA. The corrected version of Fig. 3E is shown below. We apologize for the error and appreciate the opportunity to correct the scientific record. All authors agree with this correction. [the original article was published in the Oncology Reports 35: 2723-2732, 2016; DOI: 10.3892/or.2016.4642].
September 29, 2016: Oncology Reports
Guy Herv Eacute, Hedeel Guy Evans, Roshini Fernado, Chandni Patel, Fatme Hachem, David R Evans
Elevated hydrostatic pressure was used to probe conformational changes of Aquifex aeolicus dihydroorotase (DHO) which catalyzes the third step in de novo pyrimidine biosynthesisis. The isolated protein, a 45 kDa monomer, lacks catalytic activity but becomes active upon formation of a dodecameric complex with aspartate transcarbamoylase (ATC). X-ray crystallographic studies of the isolated DHO and of the complex showed that association induces several major conformational changes in the DHO structure. In the isolated DHO, a flexible loop occludes the active site blocking the access of substrates...
October 16, 2016: Journal of Biological Chemistry
Timothy A Johnson, Elisa A Rehak, Sushant P Sahu, David A Ladner, Ezra L Cates
Germicidal UVC radiation is a highly effective, chemical-free tool for bacteria inactivation, but its application is limited to reactors and open areas that can accommodate lamps/LEDs and wiring. A relevant example of problematic bacterial colonization within UV-inaccessible confines where chemical techniques have found only limited success is biofouling of feed channels in high-pressure membrane elements for water treatment. Herein we demonstrate a unique method of generating UV internally using embedded radioluminescent (RL) particles excited by an external X-ray source...
October 14, 2016: Environmental Science & Technology
Alessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, Elisabetta Tabolacci, Giovanni Neri
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is little information regarding affected females, with very few reported cases, and a clinical definition of this phenotype is still lacking. In the present report we describe an additional case, the first to receive a primary molecular diagnosis based on strong clinical suspicion...
October 14, 2016: American Journal of Medical Genetics. Part A
C Liu, M Hu, B Zhang, X Zeng
BACKGROUND: The use of photodynamic antimicrobial chemotherapy (PACT) to treat localized Candida infections is an emerging and promising therapeutic approach. AIM: To assess the photodynamic inactivation (PDI) efficacy of haematoporphyrin monomethyl ether (HMME) on the biofilms produced by standard (ATCC 10231) and fluconazole-resistant Candida albicans strains. METHODS: The PDI efficacy was evaluated by incubating C. albicans biofilms with 0...
October 13, 2016: Clinical and Experimental Dermatology
Christina Loley, Maris Alver, Themistocles L Assimes, Andrew Bjonnes, Anuj Goel, Stefan Gustafsson, Jussi Hernesniemi, Jemma C Hopewell, Stavroula Kanoni, Marcus E Kleber, King Wai Lau, Yingchang Lu, Leo-Pekka Lyytikäinen, Christopher P Nelson, Majid Nikpay, Liming Qu, Elias Salfati, Markus Scholz, Taru Tukiainen, Christina Willenborg, Hong-Hee Won, Lingyao Zeng, Weihua Zhang, Sonia S Anand, Frank Beutner, Erwin P Bottinger, Robert Clarke, George Dedoussis, Ron Do, Tõnu Esko, Markku Eskola, Martin Farrall, Dominique Gauguier, Vilmantas Giedraitis, Christopher B Granger, Alistair S Hall, Anders Hamsten, Stanley L Hazen, Jie Huang, Mika Kähönen, Theodosios Kyriakou, Reijo Laaksonen, Lars Lind, Cecilia Lindgren, Patrik K E Magnusson, Eirini Marouli, Evelin Mihailov, Andrew P Morris, Kjell Nikus, Nancy Pedersen, Loukianos Rallidis, Veikko Salomaa, Svati H Shah, Alexandre F R Stewart, John R Thompson, Pierre A Zalloua, John C Chambers, Rory Collins, Erik Ingelsson, Carlos Iribarren, Pekka J Karhunen, Jaspal S Kooner, Terho Lehtimäki, Ruth J F Loos, Winfried März, Ruth McPherson, Andres Metspalu, Muredach P Reilly, Samuli Ripatti, Dharambir K Sanghera, Joachim Thiery, Hugh Watkins, Panos Deloukas, Sekar Kathiresan, Nilesh J Samani, Heribert Schunkert, Jeanette Erdmann, Inke R König
In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome, it has been excluded from most of these analyses. While females have 2 copies of chromosome X, males have only one. Also, one of the female X chromosomes may be inactivated. Therefore, special test statistics and quality control procedures are required. Thus, little is known about the role of X-chromosomal variants in CAD...
October 12, 2016: Scientific Reports
Fang Ma, Wenwei Shen, Xiaoqi Zhang, Manmei Li, Yifei Wang, Yuxiao Zou, Yaolan Li, Hui Wang
Six stilbene derivatives isolated from Mulberry leaves including Kuwanon X, Mulberrofuran C, Mulberrofuran G, Moracin C, Moracin M 3'-O-b-glucopyranoside and Moracin M were found to have antiviral effects against herpes simplex virus type 1 and 2 (HSV-1 and HSV-2) at different potencies except for Mulberrofuran G. Kuwanon X exhibited the greatest activity against HSV-1 15577 and clinical strains and HSV-2 strain 333 with IC50 values of 2.2, 1.5 and 2.5 µg/mL, respectively. Further study revealed that Kuwanon X did not inactivate cell-free HSV-1 particles, but inhibited cellular adsorption and penetration of HSV-1 viral particles...
2016: Biological & Pharmaceutical Bulletin
Federica Federici, Aristea Magaraki, Evelyne Wassenaar, Catherina J H van Veen-Buurman, Christine van de Werken, Esther B Baart, Joop S E Laven, J Anton Grootegoed, Joost Gribnau, Willy M Baarends
In mouse female preimplantation embryos, the paternal X chromosome (Xp) is silenced by imprinted X chromosome inactivation (iXCI). This requires production of the noncoding Xist RNA in cis, from the Xp. The Xist locus on the maternally inherited X chromosome (Xm) is refractory to activation due to the presence of an imprint. Paternal inheritance of an Xist deletion (XpΔXist) is embryonic lethal to female embryos, due to iXCI abolishment. Here, we circumvented the histone-to-protamine and protamine-to-histone transitions of the paternal genome, by fertilization of oocytes via injection of round spermatids (ROSI)...
October 2016: PLoS Genetics
Kamran Tahir, Sadia Nazir, Baoshan Li, Aftab Ahmad, Tabassum Nasir, Arif Ullah Khan, Sayyed Asim Ali Shah, Zia Ul Haq Khan, Ghulam Yasin, Muhammad Usman Hameed
There is a growing need to introduce eco-friendly and sustainable procedures for the synthesis of metal nanoparticles that include a mild reaction conditions, simple reaction setup, use of nontoxic medium such as water and plant extract, cost effectiveness as well as greater efficiency for biomedical and catalytic applications. For this purpose, small and highly dispersed palladium nanoparticles (PdNPs) were prepared by eco-friendly and cost effective green method using water soluble leaf extract of Sapium sebiferum as a reducing and capping agent...
September 23, 2016: Journal of Photochemistry and Photobiology. B, Biology
Rui Gao, Lan Wang, Hao Cai, Jingjing Zhu, Long Yu
RNF12/RLIM is a RING domain-containing E3 ubiquitin ligase whose function has only begun to be elucidated recently. Although RLIM was reported to play important roles in some biological processes such as imprinted X-chromosome inactivation and regulation of TGF-β pathway etc., other functions of RLIM are largely unknown. Here, we identified RLIM as a novel E3 ubiquitin ligase for c-Myc, one of the most frequently deregulated oncoproteins in human cancers. RLIM associates with c-Myc in vivo and in vitro independently of the E3 ligase activity of RLIM...
2016: PloS One
Kwong-Man Ng, Pamela Y Mok, Amy W Butler, Jenny C Y Ho, Shing-Wan Choi, Yee-Ki Lee, Wing-Hon Lai, Ka-Wing Au, Yee-Man Lau, Lai-Yung Wong, Miguel A Esteban, Chung-Wah Siu, Pak C Sham, Alan Colman, Hung-Fat Tse
BACKGROUND: -Danon disease is an X-linked disorder that leads to fatal cardiomyopathy, caused by a deficiency in lysosome-associated membrane protein-2 (LAMP2). In female patients, a later-onset and less severe clinical phenotype have been attributed to the random inactivation of the X-chromosome carrying the mutant diseased allele. We generated a patient-specific induced pluripotent stem cell (iPSCs) based model of Danon disease to evaluate the therapeutic potential of Xi-chromosome reactivation using a DNA methylation inhibitor...
September 27, 2016: Circulation
Daniel Becker, Zuzanna Kaczmarska, Christoph Arkona, Robert Schulz, Carolin Tauber, Gerhard Wolber, Rolf Hilgenfeld, Miquel Coll, Jörg Rademann
Small-molecule fragments binding to biomacromolecules can be starting points for the development of drugs, but are often difficult to detect due to low affinities. Here we present a strategy that identifies protein-binding fragments through their potential to induce the target-guided formation of covalently bound, irreversible enzyme inhibitors. A protein-binding nucleophile reacts reversibly with a bis-electrophilic warhead, thereby positioning the second electrophile in close proximity of the active site of a viral protease, resulting in the covalent de-activation of the enzyme...
2016: Nature Communications
Sebastian Veit, Kazuki Takeda, Yuichi Tsunoyama, Frauke Baymann, Reinat Nevo, Ziv Reich, Matthias Rögner, Kunio Miki, Sascha Rexroth
The cyanobacterium Synechocystis PCC 6803 possesses three Rieske isoforms: PetC1, PetC2 and PetC3. While PetC1 and PetC2 have been identified as alternative subunits of the cytochrome b6f complex (b6f), PetC3 was localized exclusively within the plasma membrane. The spatial separation of PetC3 from the photosynthetic and respiratory protein complexes raises doubt in its involvement in bioenergetic electron transfer. Here we report a detailed structural and functional characterization of the cyanobacterial PetC3 protein family indicating that PetC3 is not a component of the b6f and the photosynthetic electron transport as implied by gene annotation...
September 20, 2016: Biochimica et Biophysica Acta
Claire Barnes, Aditi Kanhere
Recent advances in next-generation sequencing have revealed that majority of the human genome is transcribed into long and short RNA (ncRNA) transcripts. Many ncRNAs function by interacting with proteins and forming regulatory complexes. RNA-protein interactions are vital in controlling core cellular processes like transcription and translation. Therefore identifying proteins that interact with ncRNAs is central to deciphering ncRNA functions. Here we describe an RNA-protein pull-down assay, which enables the identification of proteins that interact with an RNA under study...
2016: Methods in Molecular Biology
Young-Min Han, Jong-Min Park, Jing X Kang, Ji-Young Cha, Ho-Jae Lee, Migeyong Jeong, Eun-Jin Go, Ki Baik Hahm
Non-steroidal anti-inflammatory drugs (NSAIDs) damage the gastrointestinal (GI) epithelial cell membranes by inducing several signals through lipid raft organization after membrane incorporation, whereas ω-3 polyunsaturated fatty acids (PUFAs) relieve inflammation, reduce oxidative stress, and provide cytoprotection, consequent to lipid raft disorganization. Therefore, we hypothesized that ω-3 PUFAs can protect the GI from NSAID-induced damages by initiating the gatekeeper action of cell membranes, subsequent to anti-inflammatory and anti-oxidative actions...
2016: Scientific Reports
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