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X inactivation

Wanchao Yin, X Edward Zhou, Dehua Yang, Parker W de Waal, Meitian Wang, Antao Dai, Xiaoqing Cai, Chia-Ying Huang, Ping Liu, Xiaoxi Wang, Yanting Yin, Bo Liu, Yu Zhou, Jiang Wang, Hong Liu, Martin Caffrey, Karsten Melcher, Yechun Xu, Ming-Wei Wang, H Eric Xu, Yi Jiang
5-hydroxytryptamine (5-HT, also known as serotonin) regulates many physiological processes through the 5-HT receptor family. Here we report the crystal structure of 5-HT1B subtype receptor (5-HT1B R) bound to the psychotropic serotonin receptor inverse agonist methiothepin (MT). Crystallization was facilitated by replacing ICL3 with a novel optimized variant of BRIL (OB1) that enhances the formation of intermolecular polar interactions, making OB1 a potential useful tool for structural studies of membrane proteins...
2018: Cell Discovery
Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M Myklebust, Gunnar Houge, Thomas Arnesen
BACKGROUND: The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in other familial or de novo cases, with variable degrees of syndromic intellectual disability (ID) affecting both sexes. CASE PRESENTATION: Here we report and functionally characterize a novel and de novo NAA10 (NM_003491...
March 20, 2018: BMC Medical Genetics
Huihui Mao, Kai Wang, Yuehua Feng, Jun Zhang, Lili Pan, Yuxia Zhan, Haijun Sheng, Guanghua Luo
Background: The aberrant expression of long non-coding RNA (lncRNA) X inactivate-specific transcript (XIST) has been demonstrated to be involved in the tumourigenesis and the development of various cancers. Therefore, we conducted a meta-analysis to assess the prognostic role of lncRNA XIST expression in solid tumors. Methods: The databases of PubMed, EMBase, Web of Science, Cochrane library (up to Dec 31, 2017) were searched for the related studies and identified 15 eligible studies containing 1209 patients to include in the meta-analysis...
2018: Cancer Cell International
Vid Leko, Smitha Sripathy, Robin L Adrianse, Taylor Loe, Angela Park, Uyen Lao, Eric J Foss, Marisa S Bartolomei, Antonio Bedalov
Forward genetic screens using reporter genes inserted into the heterochromatin have been extensively used to investigate mechanisms of epigenetic control in model organisms. Technologies including short hairpin RNAs (shRNAs) and clustered regularly interspaced short palindromic repeats (CRISPR) have enabled such screens in diploid mammalian cells. Here we describe a large-scale shRNA screen for regulators of X-chromosome inactivation (XCI), using a murine cell line with firefly luciferase and hygromycin resistance genes knocked in at the C-terminus of the methyl CpG binding protein 2 (MeCP2) gene on the inactive X-chromosome (Xi)...
March 2, 2018: Journal of Visualized Experiments: JoVE
Bin Zhang, Bo Meng, Edward Viloria, Adrien Naveau, Bernhard Ganss, Andrew H Jheon
The aim of this study was to evaluate the role of epithelial signal transducer and activator of transcription 3 (STAT3) in mouse incisor amelogenesis. Since Stat3 is expressed in the epithelial component of developing and adult mouse teeth, we generated and analyzed Krt14Cre/+;Stat3fl/fl mutant mice in which Stat3 was inactivated in epithelia including ameloblast progenitors and ameloblasts, the cells responsible for enamel formation. Histological analysis showed little enamel matrix in mutant incisors compared to controls...
March 16, 2018: Cells, Tissues, Organs
Maryam Keshtkar-Jahromi, Min Ouyang, Marzieh Keshtkarjahromi, Samah Almed, Huifen Li, Jeremy D Walston, Rebeca Rios, Sean X Leng
Influenza immunization is recommended for older adults annually, and has been reported to have cardiovascular protective effects. TNF-related weak inducer of apoptosis (TWEAK), an inflammatory mediator implicated in the development of cardiovascular diseases, could be a mechanism for such effect. The objective of this study was to evaluate the effect of influenza vaccine on TWEAK levels. Older persons over 70 years of age were recruited during 2007-2008 influenza season and immunized with the standard dose trivalent inactivated influenza vaccine...
March 13, 2018: Vaccine
Allison A Lindgren, Adam R Filipowicz, Julian B Hattler, Soon Ok Kim, Hye Kyung Chung, Marcelo J Kuroda, Edward M Johnson, Woong-Ki Kim
OBJECTIVE: HIV-1 infection of the brain and related cognitive impairment remain prevalent in HIV-1-infected subjects despite combination antiretroviral therapy. Sterile alpha motif and histidine-aspartate domain-containing protein 1 (SAMHD1) is a newly identified host restriction factor that blocks the replication of HIV-1 and other retroviruses in myeloid cells. Cell-cycle-regulated phosphorylation at residue Thr592 and viral protein X (Vpx)-mediated degradation of SAMHD1 have been shown to bypass SAMHD1 restriction in vitro...
March 15, 2018: AIDS
Ziling Fang, Bo Cao, Jun-Ming Liao, Jun Deng, Kevin D Plummer, Peng Liao, Tao Liu, Wensheng Zhang, Kun Zhang, Li Li, David Margolin, Shelya X Zeng, Jianping Xiong, Hua Lu
Ribosomal proteins (RPs) play important roles in modulating the MDM2-p53 pathway. However, less is known about the upstream regulators of the RPs. Here we identify SPIN1 (Spindlin 1) as a novel binding partner of human RPL5/uL18 that is important for this pathway. SPIN1 ablation activates p53, suppresses cell growth, reduces clonogenic ability, and induces apoptosis of human cancer cells. Mechanistically, SPIN1 sequesters uL18 in the nucleolus, preventing it from interacting with MDM2, and thereby alleviating uL18-mediated inhibition of MDM2 ubiquitin ligase activity towards p53...
March 16, 2018: ELife
Honglei Zhang, Xing Yang, Xu Feng, Haibo Xu, Qin Yang, Li Zou, Mei Yan, Dequan Liu, Xiaosan Su, Baowei Jiao
The high-risk of tumor initiation in patients with Turner syndrome (TS) characterized by X chromosome monosomy in women has been well established and aneuploidy, defined as an abnormal number of chromosomes, is a common feature in human cancer. However, the underlying mechanisms of X chromosome aneuploidy promoting tumorigenesis remain obscure. We propose that chromosome-wide gene dosage imbalance (CDI) may serve as an important mechanism. Here, we assess the relative expression ratios of X chromosome and autosomes (expression ratios of X:AA) between tumor samples and adjacent normal samples across 16 tumor types using expression datasets from The Cancer Genome Atlas (TCGA) project...
March 15, 2018: Molecular Genetics and Genomics: MGG
Xiaohui Chen, Yujie Deng, Yi Shi, Weifeng Zhu, Yibin Cai, Chunwei Xu, Kunshou Zhu, Xiongwei Zheng, Gang Chen, Qi Xie, Guoxing Weng
Functional inactivation of human runt-related transcription factor 3 (RUNX3) through mutation or epigenetic silencing has been well-documented in many cancerous entities. In addition to gene mutation and promoter hypermethylation, cytoplasmic mislocalization has emerged as another major manifestation of RUNX3 dysfunction in malignancies including breast, colorectal and gastric cancers. The aim of the present study was to investigate whether patients with non-small cell lung cancer (NSCLC) and different RUNX3 expression patterns would have different overall survival (OS), and the associations between different patterns of clinicopathological parameters and clinical outcome...
April 2018: Oncology Letters
J D Drummond, F Boano, E R Atwill, X Li, T Harter, A I Packman
Rivers are a means of rapid and long-distance transmission of pathogenic microorganisms from upstream terrestrial sources. Pathogens enter streams and rivers via overland flow, shallow groundwater discharge, and direct inputs. Of concern is the protozoal parasite, Cryptosporidium, which can remain infective for weeks to months under cool and moist conditions, with the infectious stage (oocysts) largely resistant to chlorination. We applied a mobile-immobile model framework to assess Cryptosporidium transport and retention in streams, that also accounts for inactivation...
March 15, 2018: Scientific Reports
Wen Ye, Shaoping Ling, Ran-Yi Liu, Zhi-Zhong Pan, Gaoyuan Wang, Shijuan Gao, Jiangxue Wu, Lihua Cao, Lili Dong, Yingchang Li, Yi Zhou, Wuying Du, Xiangqi Meng, Jinna Chen, Xinyuan Guan, Yulong He, Changchuan Pan, X F Steven Zheng, Xuemei Lu, Shuai Chen, Wenlin Huang
Colorectal cancer (CRC) is the third most common cancer worldwide, with more than 1.3 million new cases and 690,000 deaths each year. In China, the incidence of CRC has increased dramatically due to dietary and lifestyle changes, to become the fifth leading cause of cancer-related death. Here, we performed whole-exome sequencing in 50rectal cancer cases among the Chinese population as part of the International Cancer Genome Consortium research project. Frequently-mutated genes and enriched pathways were identified...
March 14, 2018: Journal of Pathology
Alberto Ortiz, Dominique P Germain, Robert J Desnick, Juan Politei, Michael Mauer, Alessandro Burlina, Christine Eng, Robert J Hopkin, Dawn Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R Wilcox
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit...
February 28, 2018: Molecular Genetics and Metabolism
Øivind Skare, Rolv T Lie, Øystein A Haaland, Miriam Gjerdevik, Julia Romanowska, Håkon K Gjessing, Astanand Jugessur
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models...
2018: Frontiers in Genetics
Tomoko Saikusa, Munetsugu Hara, Kazuhiro Iwama, Kotaro Yuge, Chihiro Ohba, Jun-Ichiro Okada, Tadashi Hisano, Yushiro Yamashita, Nobuhiko Okamoto, Hirotomo Saitsu, Naomichi Matsumoto, Toyojiro Matsuishi
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele...
March 5, 2018: Brain & Development
Taru Tukiainen, Alexandra-Chloé Villani, Angela Yen, Manuel A Rivas, Jamie L Marshall, Rahul Satija, Matt Aguirre, Laura Gauthier, Mark Fleharty, Andrew Kirby, Beryl B Cummings, Stephane E Castel, Konrad J Karczewski, François Aguet, Andrea Byrnes, GTEx Consortium, Tuuli Lappalainen, Aviv Regev, Kristin G Ardlie, Nir Hacohen, Daniel G MacArthur
This corrects the article DOI: 10.1038/nature24265.
March 7, 2018: Nature
Marcia Manterola, Taylor M Brown, Min Young Oh, Corey Garyn, Bryan J Gonzalez, Debra J Wolgemuth
The double bromodomain and extra-terminal domain (BET) proteins are critical epigenetic readers that bind to acetylated histones in chromatin and regulate transcriptional activity and modulate changes in chromatin structure and organization. The testis-specific BET member, BRDT, is essential for the normal progression of spermatogenesis as mutations in the Brdt gene result in complete male sterility. Although BRDT is expressed in both spermatocytes and spermatids, loss of the first bromodomain of BRDT leads to severe defects in spermiogenesis without overtly compromising meiosis...
March 2018: PLoS Genetics
Joana Barroso Amaral, Artur Augusto Paiva, Fabiana Viana Ramos, Marie José Stasia, Sónia Gaspar Lemos
No abstract text is available yet for this article.
March 2018: Annals of Allergy, Asthma & Immunology
Susana Beceiro, Attila Pap, Zsolt Czimmerer, Tamer Sallam, Jose A Guillén, Germán Gallardo, Cynthia Hong, Noelia A-Gonzalez, Carlos Tabraue, Mercedes Diaz, Felix Lopez, Jonathan Matalonga, Annabel F Valledor, Pilar Dominguez, Carlos Ardavin, Cristina Delgado-Martin, Santiago Partida-Sanchez, Jose Luis Rodriguez-Fernandez, Laszlo Nagy, Peter Tontonoz, Antonio Castrillo
The liver X receptors (LXRs) are ligand-activated nuclear receptors with established roles in the maintenance of lipid homeostasis in multiple tissues. LXRs exert additional biological functions as negative regulators of inflammation, particularly in macrophages. However, the transcriptional responses controlled by LXRs in other myeloid cells, such as dendritic cells (DC), are still poorly understood. Here we used gain- and loss-of-function models to characterize the impact of LXR deficiency on DC activation programs...
March 5, 2018: Molecular and Cellular Biology
Carole Le Coz, Melissa Trofa, Camille M Syrett, Anna Martin, Harumi Jyonouchi, Soma Jyonouchi, Montserrat C Anguera, Neil Romberg
An inherited syndrome of autoimmunity associated with CD40LG duplication is silenced by non-random X-chromosome inactivation and is treatable with CD40L directed therapy.
February 27, 2018: Journal of Allergy and Clinical Immunology
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