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Weifeng Zhu, Yan Deng, Xiaodong Zhou
Gout is a common form of inflammatory arthritis caused by hyperuricemia and the deposition of Monosodium Urate (MSU) crystals. It is also considered as a complex disorder in which multiple genetic factors have been identified in association with its susceptibility and/or clinical outcomes. Major genes that were associated with gout include URAT1, GLUT9, OAT4, NPT1 (SLC17A1), NPT4 (SLC17A3), NPT5 (SLC17A4), MCT9, ABCG2, ABCC4, KCNQ1, PDZK1, NIPAL1, IL1β, IL-8, IL-12B, IL-23R, TNFA, MCP-1/CCL2, NLRP3, PPARGC1B, TLR4, CD14, CARD8, P2X7R, EGF, A1CF, HNF4G and TRIM46, LRP2, GKRP, ADRB3, ADH1B, ALDH2, COMT, MAOA, PRKG2, WDR1, ALPK1, CARMIL (LRRC16A), RFX3, BCAS3, CNIH-2, FAM35A and MYL2-CUX2 ...
2018: Open Rheumatology Journal
Nicholas P Boyer, Caroline Monkiewicz, Shalini Menon, Sheryl S Moy, Stephanie L Gupton
Class I members of the tripartite motif (TRIM) family of E3 ubiquitin ligases evolutionarily appeared just prior to the advent of neuronal like cells and have been implicated in neuronal development from invertebrates to mammals. The single Class I TRIM in Drosophila melanogaster and Caenorhabditis elegans and the mammalian Class I TRIM9 regulate axon branching and guidance in response to the guidance cue netrin, whereas mammalian TRIM46 establishes the axon initial segment. In humans, mutations in TRIM1 and TRIM18 are implicated in Opitz Syndrome, characterized by midline defects and often intellectual disability...
May 2018: ENeuro
Hyuna Sung, Nan Hu, Howard H Yang, Carol A Giffen, Bin Zhu, Lei Song, Hua Su, Chaoyu Wang, Dominick M Parisi, Alisa M Goldstein, Philip R Taylor, Paula L Hyland
Eleven high-evidence single-nucleotide polymorphisms (SNPs) at nine loci for gastric cancer (GC) risk were reported, but their associations with survival remain unknown. In this study, we examined associations between SNP and GC survival by anatomic location and histology among 1147 incident cases from the Shanxi Upper Gastrointestinal Genetics Project. We further examined whether SNPs were expression quantitative trait loci in normal and tumor gastric tissues, and whether tumor versus normal somatic mRNA differences in 126 cases were associated with survival...
October 26, 2017: Carcinogenesis
Marleen H van Coevorden-Hameete, Sam F B van Beuningen, Matthieu Perrenoud, Lena M Will, Esther Hulsenboom, Jean-Francois Demonet, Lidia Sabater, Johan M Kros, Jan J G M Verschuuren, Maarten J Titulaer, Esther de Graaff, Peter A E Sillevis Smitt, Casper C Hoogenraad
Paraneoplastic neurological syndromes (PNS) are often characterized by the presence of antineuronal antibodies in patient serum or cerebrospinal fluid. The detection of antineuronal antibodies has proven to be a useful tool in PNS diagnosis and the search for an underlying tumor. Here, we describe three patients with autoantibodies to several epitopes of the axon initial segment protein tripartite motif 46 (TRIM46). We show that anti-TRIM46 antibodies are easy to detect in routine immunohistochemistry screening and can be confirmed by western blotting and cell-based assay...
September 2017: Annals of Clinical and Translational Neurology
Anand N Rao, Ankita Patil, Mark M Black, Erin M Craig, Kenneth A Myers, Howard T Yeung, Peter W Baas
Axonal microtubules are predominantly organized into a plus-end-out pattern. Here, we tested both experimentally and with computational modeling whether a motor-based polarity-sorting mechanism can explain this microtubule pattern. The posited mechanism centers on cytoplasmic dynein transporting plus-end-out and minus-end-out microtubules into and out of the axon, respectively. When cytoplasmic dynein was acutely inhibited, the bi-directional transport of microtubules in the axon was disrupted in both directions, after which minus-end-out microtubules accumulated in the axon over time...
June 13, 2017: Cell Reports
Zheng Dong, Jingru Zhou, Shuai Jiang, Yuan Li, Dongbao Zhao, Chengde Yang, Yanyun Ma, Yi Wang, Hongjun He, Hengdong Ji, Yajun Yang, Xiaofeng Wang, Xia Xu, Yafei Pang, Hejian Zou, Li Jin, Jiucun Wang
Gout is a common arthritis resulting from increased serum urate, and many loci have been identified that are associated with serum urate and gout. However, their influence on the progression from elevated serum urate levels to gout is unclear. This study aims to explore systematically the effects of genetic variants on the pathogenesis in approximately 5,000 Chinese individuals. Six genes (PDZK1, GCKR, TRIM46, HNF4G, SLC17A1, LRRC16A) were determined to be associated with serum urate (PFDR  < 0.05) in the Chinese population for the first time...
March 2, 2017: Scientific Reports
Song Gao, Liancheng Zhu, Huilin Feng, Zhenhua Hu, Shan Jin, Zuofei Song, Dawo Liu, Juanjuan Liu, Yingying Hao, Xiao Li, Bei Lin
The aim of this study was to identify differentially expressed genes (DEGs) in response to α1,2-fucosyl transferase (FUT1) gene transfection in epithelial ovarian cancer cells. Human whole-genome oligonucleotide microarrays were used to determine whether gene expression profile may differentiate the epithelial ovarian cell line Caov-3 transfected with FUT1 from the empty plasmid-transfected cells. Quantitative real-time PCR and immunohistochemical staining validated the microarray results. Gene expression profile identified 215 DEGs according to the selection criteria, in which 122 genes were upregulated and 93 genes were downregulated...
September 2016: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
Li Zhang, Xiaoying Li, Wei Dong, Caixian Sun, Deyu Guo, Lianfeng Zhang
Breast cancer is the second leading cause of cancer death in women and the presence of metastasis significantly decreases survival. MicroRNAs are involved in tumor progression and the metastatic spreading of breast cancer. Here, we reported that a microRNA, mmu-miR-1894, significantly decreased the lung metastasis of 4TO7 mouse breast cancer cells by 86.7% in mouse models. Mmu-miR-1894-3p was the functional mature form of miR-1894 and significantly decreased the lung metastasis of 4TO7 cells by 90.8% in mouse models...
April 22, 2016: International Journal of Molecular Sciences
Michele Curcio, Frank Bradke
The microtubule cytoskeleton is a major determinant in neuronal polarity. In this issue of Neuron, van Beuningen et al. (2015) now report that TRIM46 forms parallel microtubule bundles in the proximal axon and reveal that it is crucial for the establishment and maintenance of neuronal polarity.
December 16, 2015: Neuron
Sam F B van Beuningen, Lena Will, Martin Harterink, Anaël Chazeau, Eljo Y van Battum, Cátia P Frias, Mariella A M Franker, Eugene A Katrukha, Riccardo Stucchi, Karin Vocking, Ana T Antunes, Lotte Slenders, Sofia Doulkeridou, Peter Sillevis Smitt, A F Maarten Altelaar, Jan A Post, Anna Akhmanova, R Jeroen Pasterkamp, Lukas C Kapitein, Esther de Graaff, Casper C Hoogenraad
Axon formation, the initial step in establishing neuronal polarity, critically depends on local microtubule reorganization and is characterized by the formation of parallel microtubule bundles. How uniform microtubule polarity is achieved during axonal development remains an outstanding question. Here, we show that the tripartite motif containing (TRIM) protein TRIM46 plays an instructive role in the initial polarization of neuronal cells. TRIM46 is specifically localized to the newly specified axon and, at later stages, partly overlaps with the axon initial segment (AIS)...
December 16, 2015: Neuron
Weihua Zhan, Tianyu Han, Chenfu Zhang, Caifeng Xie, Mingxi Gan, Keyu Deng, Mingui Fu, Jian-Bin Wang
TRIM protein family is an evolutionarily conserved gene family implicated in a number of critical processes including inflammation, immunity, antiviral and cancer. In an effort to profile the expression patterns of TRIM superfamily in several non-small cell lung cancer (NSCLC) cell lines, we found that the expression of 10 TRIM genes including TRIM3, TRIM7, TRIM14, TRIM16, TRIM21, TRIM22, TRIM29, TRIM59, TRIM66 and TRIM70 was significantly upregulated in NSCLC cell lines compared with the normal human bronchial epithelial (HBE) cell line, whereas the expression of 7 other TRIM genes including TRIM4, TRIM9, TRIM36, TRIM46, TRIM54, TRIM67 and TRIM76 was significantly down-regulated in NSCLC cell lines compared with that in HBE cells...
2015: PloS One
Kalpana Kannan, Gona Karimi Kordestani, Anika Galagoda, Cristian Coarfa, Laising Yen
High-grade serous ovarian cancer (HGSC) is among the most lethal forms of cancer in women. By analyzing the mRNA-seq reads from The Cancer Genome Atlas (TCGA), we uncovered a novel cancer-enriched chimeric RNA as the result of splicing between MUC1, a highly glycosylated transmembrane mucin, TRIM46, a tripartite motif containing protein, and KRTCAP2, a keratinocyte associated protein. Experimental analyses by RT-PCR (reverse transcription PCR) and Sanger sequencing using an in-house cohort of 59 HGSC patient tumors revealed a total of six MUC1-TRIM46-KRTCAP2 isoforms joined by different annotated splice sites between these genes...
October 19, 2015: Cancers
Anna Köttgen, Eva Albrecht, Alexander Teumer, Veronique Vitart, Jan Krumsiek, Claudia Hundertmark, Giorgio Pistis, Daniela Ruggiero, Conall M O'Seaghdha, Toomas Haller, Qiong Yang, Toshiko Tanaka, Andrew D Johnson, Zoltán Kutalik, Albert V Smith, Julia Shi, Maksim Struchalin, Rita P S Middelberg, Morris J Brown, Angelo L Gaffo, Nicola Pirastu, Guo Li, Caroline Hayward, Tatijana Zemunik, Jennifer Huffman, Loic Yengo, Jing Hua Zhao, Ayse Demirkan, Mary F Feitosa, Xuan Liu, Giovanni Malerba, Lorna M Lopez, Pim van der Harst, Xinzhong Li, Marcus E Kleber, Andrew A Hicks, Ilja M Nolte, Asa Johansson, Federico Murgia, Sarah H Wild, Stephan J L Bakker, John F Peden, Abbas Dehghan, Maristella Steri, Albert Tenesa, Vasiliki Lagou, Perttu Salo, Massimo Mangino, Lynda M Rose, Terho Lehtimäki, Owen M Woodward, Yukinori Okada, Adrienne Tin, Christian Müller, Christopher Oldmeadow, Margus Putku, Darina Czamara, Peter Kraft, Laura Frogheri, Gian Andri Thun, Anne Grotevendt, Gauti Kjartan Gislason, Tamara B Harris, Lenore J Launer, Patrick McArdle, Alan R Shuldiner, Eric Boerwinkle, Josef Coresh, Helena Schmidt, Michael Schallert, Nicholas G Martin, Grant W Montgomery, Michiaki Kubo, Yusuke Nakamura, Toshihiro Tanaka, Patricia B Munroe, Nilesh J Samani, David R Jacobs, Kiang Liu, Pio D'Adamo, Sheila Ulivi, Jerome I Rotter, Bruce M Psaty, Peter Vollenweider, Gerard Waeber, Susan Campbell, Olivier Devuyst, Pau Navarro, Ivana Kolcic, Nicholas Hastie, Beverley Balkau, Philippe Froguel, Tõnu Esko, Andres Salumets, Kay Tee Khaw, Claudia Langenberg, Nicholas J Wareham, Aaron Isaacs, Aldi Kraja, Qunyuan Zhang, Philipp S Wild, Rodney J Scott, Elizabeth G Holliday, Elin Org, Margus Viigimaa, Stefania Bandinelli, Jeffrey E Metter, Antonio Lupo, Elisabetta Trabetti, Rossella Sorice, Angela Döring, Eva Lattka, Konstantin Strauch, Fabian Theis, Melanie Waldenberger, H-Erich Wichmann, Gail Davies, Alan J Gow, Marcel Bruinenberg, Ronald P Stolk, Jaspal S Kooner, Weihua Zhang, Bernhard R Winkelmann, Bernhard O Boehm, Susanne Lucae, Brenda W Penninx, Johannes H Smit, Gary Curhan, Poorva Mudgal, Robert M Plenge, Laura Portas, Ivana Persico, Mirna Kirin, James F Wilson, Irene Mateo Leach, Wiek H van Gilst, Anuj Goel, Halit Ongen, Albert Hofman, Fernando Rivadeneira, Andre G Uitterlinden, Medea Imboden, Arnold von Eckardstein, Francesco Cucca, Ramaiah Nagaraja, Maria Grazia Piras, Matthias Nauck, Claudia Schurmann, Kathrin Budde, Florian Ernst, Susan M Farrington, Evropi Theodoratou, Inga Prokopenko, Michael Stumvoll, Antti Jula, Markus Perola, Veikko Salomaa, So-Youn Shin, Tim D Spector, Cinzia Sala, Paul M Ridker, Mika Kähönen, Jorma Viikari, Christian Hengstenberg, Christopher P Nelson, James F Meschia, Michael A Nalls, Pankaj Sharma, Andrew B Singleton, Naoyuki Kamatani, Tanja Zeller, Michel Burnier, John Attia, Maris Laan, Norman Klopp, Hans L Hillege, Stefan Kloiber, Hyon Choi, Mario Pirastu, Silvia Tore, Nicole M Probst-Hensch, Henry Völzke, Vilmundur Gudnason, Afshin Parsa, Reinhold Schmidt, John B Whitfield, Myriam Fornage, Paolo Gasparini, David S Siscovick, Ozren Polašek, Harry Campbell, Igor Rudan, Nabila Bouatia-Naji, Andres Metspalu, Ruth J F Loos, Cornelia M van Duijn, Ingrid B Borecki, Luigi Ferrucci, Giovanni Gambaro, Ian J Deary, Bruce H R Wolffenbuttel, John C Chambers, Winfried März, Peter P Pramstaller, Harold Snieder, Ulf Gyllensten, Alan F Wright, Gerjan Navis, Hugh Watkins, Jacqueline C M Witteman, Serena Sanna, Sabine Schipf, Malcolm G Dunlop, Anke Tönjes, Samuli Ripatti, Nicole Soranzo, Daniela Toniolo, Daniel I Chasman, Olli Raitakari, W H Linda Kao, Marina Ciullo, Caroline S Fox, Mark Caulfield, Murielle Bochud, Christian Gieger
Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry...
February 2013: Nature Genetics
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