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https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#1
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29144398/predict-the-relationship-between-gene-and-large-yellow-croaker-s-economic-traits
#2
Xiangxiang Zeng, Shuting Jin, Jin Jiang, Kunhuang Han, Xiaoping Min, Xiangrong Liu
The importance of a gene's impact on traits is well appreciated. Gene expression will affect the growth, immunity, reproduction and environmental resistance of some fish, and then affect the economic performance of fish-related business. Studying the connection between gene and character can help elucidate the growth of fishes. Thus far, a collected database containing large yellow croaker (Larimichthys crocea) genes does not exist. The gene having to do with the growth efficiency of fish will have a huge impact on research...
November 16, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29121875/effect-of-short-term-diet-restriction-on-gene-expression-in-the-bovine-hypothalamus-using-next-generation-rna-sequencing-technology
#3
Daragh Matthews, Michael G Diskin, David A Kenny, Christopher J Creevey, Kate Keogh, Sinead M Waters
BACKGROUND: Negative energy balance (NEB) is an imbalance between energy intake and energy requirements for lactation and body maintenance affecting high-yielding dairy cows and is of considerable economic importance due to its negative impact on fertility and health in dairy herds. It is anticipated that the cow hypothalamus experiences extensive biochemical changes during the early post partum period in an effort to re-establish metabolic homeostasis. However, there is variation in the tolerance to NEB between individual cows...
November 9, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29100097/monogenic-lupus-it-s-all-new
#4
REVIEW
Patricia Costa-Reis, Kathleen E Sullivan
Monogenic lupus is rare, but its study has contributed immensely to a better understanding of the pathogenesis of systemic lupus erythematosus. The first forms identified were inherited complement deficiencies, which predisposed to lupus due to impaired tolerance, and aberrant clearance of apoptotic bodies and immune complexes. In recent years, several new monogenic disorders with a lupus-like phenotype have been described. These include forms that affect nucleic acid repair, degradation and sensing (TREX1, DNASE1L3), the type I interferon (IFN) pathway (SAMHD1, RNASEH2ABC, ADAR1, IFIH1, ISG15, ACP5, TMEM173) and B cell development checkpoints (PRKCD; RAG2)...
October 27, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/29066255/comparative-analysis-of-microbial-sensing-molecules-in-mucosal-tissues-with-aging
#5
O A Gonzalez, S Kirakodu, M J Novak, A J Stromberg, L Orraca, J Gonzalez-Martinez, A Burgos, J L Ebersole
Host-bacterial interactions at mucosal surfaces require recognition of the bacteria by host cells enabling targeted responses to maintain tissue homeostasis. It is now well recognized that an array of host-derived pattern recognition receptors (PRRs), both cell-bound and soluble, are critical to innate immune engagement of microbes via microbial-associated molecular patterns (MAMP). This report describes the use of a nonhuman primate model to evaluate changes in the expression of these sensing molecules related to aging in healthy gingival tissues...
October 16, 2017: Immunobiology
https://www.readbyqxmd.com/read/29066169/genotypes-of-ifih1-and-ifit5-in-seven-chicken-breeds-indicated-artificial-selection-for-commercial-traits-influenced-antiviral-genes
#6
Jing-Jing Li, Ye Wang, Chao-Wu Yang, Jin-Shan Ran, Xiao-Song Jiang, Hua-Rui Du, Yao-Dong Hu, Yi-Ping Liu
Innate immunity is the first line against the invasion of pathogenic microorganisms. Previous reports only demonstrated production traits of commercial importance were often negatively correlated with innate disease resistance. However, whether different purpose of artificial selection influences innate immunity have not been understood. In this study, we cloned exon1, exon6 of IFIH1 and exon2 of IFIT5 by molecular biology techniques in seven different chicken breeds to detect the potential effect of artificial selection for commercial traits on disease resistance for the first time...
October 21, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29018476/recurrent-and-prolonged-infections-in-a-child-with-a-homozygous-ifih1-nonsense-mutation
#7
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient's microcephaly, severe psychomotor retardation, seizures and cataracts. However, she additionally suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization, suggesting a secondary, predisposing and potentially Mendelian, condition...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28973304/exome-wide-association-study-reveals-novel-psoriasis-susceptibility-locus-at-tnfsf15-and-rare-protective-alleles-in-genes-contributing-to-type-i-ifn-signalling
#8
Nick Dand, Sören Mucha, Lam C Tsoi, Satveer K Mahil, Philip E Stuart, Andreas Arnold, Hansjörg Baurecht, A David Burden, Kristina Callis Duffin, Vinod Chandran, Charles J Curtis, Sayantan Das, David Ellinghaus, Eva Ellinghaus, Charlotta Enerback, Tõnu Esko, Dafna D Gladman, Christopher E M Griffiths, Johann E Gudjonsson, Per Hoffman, Georg Homuth, Ulrike Hüffmeier, Gerald G Krueger, Matthias Laudes, Sang Hyuck Lee, Wolfgang Lieb, Henry W Lim, Sabine Löhr, Ulrich Mrowietz, Martina Müller-Nurayid, Markus Nöthen, Annette Peters, Proton Rahman, André Reis, Nick J Reynolds, Elke Rodriguez, Carsten O Schmidt, Sarah L Spain, Konstantin Strauch, Trilokraj Tejasvi, John J Voorhees, Richard B Warren, Michael Weichenthal, Stephan Weidinger, Matthew Zawistowski, Rajan P Nair, Francesca Capon, Catherine H Smith, Richard C Trembath, Goncalo R Abecasis, James T Elder, Andre Franke, Michael A Simpson, Jonathan N Barker
Psoriasis is a common inflammatory skin disorder for which multiple genetic susceptibility loci have been identified, but few resolved to specific functional variants. In this study, we sought to identify common and rare psoriasis-associated gene-centric variation. Using exome arrays we genotyped four independent cohorts, totalling 11 861 psoriasis cases and 28 610 controls, aggregating the dataset through statistical meta-analysis. Single variant analysis detected a previously unreported risk locus at TNFSF15 (rs6478108; P = 1...
November 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28955379/rig-i-like-receptor-signaling-in-singleton-merten-syndrome
#9
REVIEW
Changming Lu, Mary MacDougall
Singleton-Merten syndrome (SMS) is an autosomal dominant, multi-system innate immune disorder characterized by early and severe aortic and valvular calcification, dental and skeletal abnormalities, psoriasis, glaucoma, and other varying clinical findings. Recently we identified a specific gain-of-function mutation in IFIH1, interferon induced with helicase C domain 1, segregated with this disease. SMS disease without hallmark dental anomalies, termed atypical SMS, has recently been reported caused by variants in DDX58, DEXD/H-box helicase 58...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28929635/association-between-interferon-induced-helicase-ifih1-rs1990760-polymorphism-and-seasonal-variation-in-the-onset-of-type-1-diabetes-mellitus
#10
Ágnes Jermendy, Ildikó Szatmári, Anna Körner, Attila J Szabó, Péter Tóth-Heyn, Róbert Hermann
BACKGROUND: Infections, mostly of viral origin, may contribute to the seasonal variation in the onset of type 1 diabetes mellitus (T1DM). The rs1990760 (A>G, Ala946Thr) polymorphism (GG genotype) of the interferon induced helicase (IFIH1), a virus recognition receptor, confers a modest protection for T1DM. The aim of our study was to evaluate a possible association between this IFIH1 polymorphism and the seasonal variation in the onset of T1DM. MATERIALS AND METHODS: The IFIH1 rs1990760 polymorphism was genotyped in 1055 patients of Central-Eastern European ancestry with T1DM (median age at diagnosis: 8...
September 20, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28874170/protein-recoding-by-adar1-mediated-rna-editing-is-not-essential-for-normal-development-and-homeostasis
#11
Jacki E Heraud-Farlow, Alistair M Chalk, Sandra E Linder, Qin Li, Scott Taylor, Joshua M White, Lokman Pang, Brian J Liddicoat, Ankita Gupte, Jin Billy Li, Carl R Walkley
BACKGROUND: Adenosine-to-inosine (A-to-I) editing of dsRNA by ADAR proteins is a pervasive epitranscriptome feature. Tens of thousands of A-to-I editing events are defined in the mouse, yet the functional impact of most is unknown. Editing causing protein recoding is the essential function of ADAR2, but an essential role for recoding by ADAR1 has not been demonstrated. ADAR1 has been proposed to have editing-dependent and editing-independent functions. The relative contribution of these in vivo has not been clearly defined...
September 5, 2017: Genome Biology
https://www.readbyqxmd.com/read/28851763/the-innate-immune-receptor-mda5-limits-rotavirus-infection-but-promotes-cell-death-and-pancreatic%C3%A2-inflammation
#12
Yu Dou, Howard Ch Yim, Carl D Kirkwood, Bryan Rg Williams, Anthony J Sadler
Melanoma differentiation-associated protein 5 (MDA5) mediates the innate immune response to viral infection. Polymorphisms in IFIH1, the gene coding for MDA5, correlate with the risk of developing type 1 diabetes (T1D). Here, we demonstrate that MDA5 is crucial for the immune response to enteric rotavirus infection, a proposed etiological agent for T1D. MDA5 variants encoded by minor IFIH1 alleles associated with lower T1D risk exhibit reduced activity against rotavirus infection. We find that MDA5 activity limits rotavirus infection not only through the induction of antiviral interferons and pro-inflammatory cytokines, but also by promoting cell death...
September 15, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28783706/type-i-interference-with-self-tolerance
#13
Rachael A Clark
Common variant of the RNA sensor IFIH1 enhances antiviral responses but also increases the risk of autoimmune disease.
July 7, 2017: Science Immunology
https://www.readbyqxmd.com/read/28716935/severe-viral-respiratory-infections-in-children-with-ifih1-loss-of-function-mutations
#14
Samira Asgari, Luregn J Schlapbach, Stéphanie Anchisi, Christian Hammer, Istvan Bartha, Thomas Junier, Geneviève Mottet-Osman, Klara M Posfay-Barbe, David Longchamp, Martin Stocker, Samuel Cordey, Laurent Kaiser, Thomas Riedel, Tony Kenna, Deborah Long, Andreas Schibler, Amalio Telenti, Caroline Tapparel, Paul J McLaren, Dominique Garcin, Jacques Fellay
Viral respiratory infections are usually mild and self-limiting; still they exceptionally result in life-threatening infections in previously healthy children. To investigate a potential genetic cause, we recruited 120 previously healthy children requiring support in intensive care because of a severe illness caused by a respiratory virus. Using exome and transcriptome sequencing, we identified and characterized three rare loss-of-function variants in IFIH1, which encodes an RIG-I-like receptor involved in the sensing of viral RNA...
August 1, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28632717/polymorphisms-in-ifih1-the-good-and-the-bad
#15
Erika Della Mina, Mathieu P Rodero, Yanick J Crow
No abstract text is available yet for this article.
June 20, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28611294/microarray-based-detection-and-expression-analysis-of-new-genes-associated-with-drug-resistance-in-ovarian-cancer-cell-lines
#16
Radosław Januchowski, Karolina Sterzyńska, Piotr Zawierucha, Marcin Ruciński, Monika Świerczewska, Małgorzata Partyka, Katarzyna Bednarek-Rajewska, Maciej Brązert, Michał Nowicki, Maciej Zabel, Andrzej Klejewski
PURPOSE: The present study is to discover a new genes associated with drug resistance development in ovarian cancer. METHODS: We used microarray analysis to determine alterations in the level of expression of genes in cisplatin- (CisPt), doxorubicin- (Dox), topotecan- (Top), and paclitaxel- (Pac) resistant variants of W1 and A2780 ovarian cancer cell lines. Immunohistochemistry assay was used to determine protein expression in ovarian cancer patients. RESULTS: We observed alterations in the expression of 22 genes that were common to all three cell lines that were resistant to the same cytostatic drug...
July 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28606988/recurrent-rhinovirus-infections-in-a-child-with-inherited-mda5-deficiency
#17
Ian T Lamborn, Huie Jing, Yu Zhang, Scott B Drutman, Jordan K Abbott, Shirin Munir, Sangeeta Bade, Heardley M Murdock, Celia P Santos, Linda G Brock, Evan Masutani, Emmanuel Y Fordjour, Joshua J McElwee, Jason D Hughes, Dave P Nichols, Aziz Belkadi, Andrew J Oler, Corinne S Happel, Helen F Matthews, Laurent Abel, Peter L Collins, Kanta Subbarao, Erwin W Gelfand, Michael J Ciancanelli, Jean-Laurent Casanova, Helen C Su
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5. Mutant MDA5 was expressed but did not recognize the synthetic MDA5 agonist/(ds)RNA mimic polyinosinic-polycytidylic acid. When overexpressed, mutant MDA5 failed to drive luciferase activity from the IFNB1 promoter or promoters containing ISRE or NF-κB sequence motifs...
July 3, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28605413/acute-bovine-viral-diarrhea-virus-infection-inhibits-expression-of-interferon-tau-stimulated-genes-in-bovine-endometrium
#18
Zhangrui Cheng, Latta Chauhan, Amy Teresa Barry, Ayimuguli Abudureyimu, Chike F Oguejiofor, Xing Chen, D Claire Wathes
Bovine viral diarrhea virus (BVDV) can evade host detection by downregulation of interferon signaling pathways. Infection of cows with noncytopathic (ncp) BVDV can cause early embryonic mortality. Upregulation of type I interferon stimulated genes (ISGs) by blastocyst-secreted interferon tau (IFNT) is a crucial component of the maternal recognition of pregnancy (MRP) in ruminants. This study investigated the potential of acute BVDV infection to disrupt MRP by modulating endometrial ISG expression. Endometrial cells from 10 BVDV-free cows were cultured and treated with 0 or 100 ng/ml IFNT for 24 h in the absence or presence of ncpBVDV infection to yield four treatment groups: CONT, ncpBVDV, IFNT, or ncpBVDV+IFNT...
June 1, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28605144/musculoskeletal-disease-in-mda5-related-type-i-interferonopathy-a-mendelian-mimic-of-jaccoud-s-arthropathy
#19
Luciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, Nadja Ehmke, Nikolaus Deigendesch, Naoki Kitabayashi, Isabelle Melki, Flávio Falcäo L Souza, Andreas Tzschach, Marcello H Nogueira-Barbosa, Virgínia Ferriani, Paulo Louzada-Junior, Wilson Marques, Charles M Lourenço, Denise Horn, Tilmann Kallinich, Werner Stenzel, Sun Hur, Gillian I Rice, Yanick J Crow
OBJECTIVE: To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. METHODS: We identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification...
October 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28553952/the-a946t-variant-of-the-rna-sensor-ifih1-mediates-an-interferon-program-that-limits-viral-infection-but-increases-the-risk-for-autoimmunity
#20
Jacquelyn A Gorman, Christian Hundhausen, John S Errett, Amy E Stone, Eric J Allenspach, Yan Ge, Tanvi Arkatkar, Courtnee Clough, Xuezhi Dai, Socheath Khim, Kathleen Pestal, Denny Liggitt, Karen Cerosaletti, Daniel B Stetson, Richard G James, Mohamed Oukka, Patrick Concannon, Michael Gale, Jane H Buckner, David J Rawlings
The single-nucleotide polymorphism rs1990760 in the gene encoding the cytosolic viral sensor IFIH1 results in an amino-acid change (A946T; IFIH1(T946)) that is associated with multiple autoimmune diseases. The effect of this polymorphism on both viral sensing and autoimmune pathogenesis remains poorly understood. Here we found that human peripheral blood mononuclear cells (PBMCs) and cell lines expressing the risk variant IFIH1(T946) exhibited heightened basal and ligand-triggered production of type I interferons...
July 2017: Nature Immunology
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