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Nature Genetics

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https://www.readbyqxmd.com/read/28922436/genetic-risk-factors-for-autoimmune-thyroid-disease-might-affect-the-susceptibility-to-and-modulate-the-progression-of-primary-biliary-cholangitis
#1
Aleksander Kuś, Magdalena Arłukowicz-Grabowska, Konrad Szymański, Ewa Wunsch, Małgorzata Milkiewicz, Rafał Płoski, Zakera Shums, Gary L Norman, Piotr Milkiewicz, Tomasz Bednarczuk, Marcin Krawczyk
BACKGROUND AND AIMS: Patients with primary biliary cholangitis (PBC) frequently suffer from extrahepatic autoimmune conditions, of which autoimmune thyroid disease (AITD) is one of the most common. Previous studies identified several genetic variants increasing the odds of developing AITD. Here we investigate whether AITD-associated polymorphisms might also play a role in the development and clinical course of PBC and PBC associated with AITD (PBC-AITD). METHODS: To this end, we prospectively recruited 230 patients with PBC and 421 healthy controls...
September 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28922373/dynein-light-chain-regulates-adaptive-and-innate-b-cell-development-by-distinctive-genetic-mechanisms
#2
Ashleigh King, Lingli Li, David M Wong, Rui Liu, Rebecca Bamford, Andreas Strasser, David M Tarlinton, Jörg Heierhorst
Mechanistic differences in the development and function of adaptive, high-affinity antibody-producing B-2 cells and innate-like, "natural" antibody-producing B-1a cells remain poorly understood. Here we show that the multi-functional dynein light chain (DYNLL1/LC8) plays important roles in the establishment of B-1a cells in the peritoneal cavity and in the ongoing development of B-2 lymphoid cells in the bone marrow of mice. Epistasis analyses indicate that Dynll1 regulates B-1a and early B-2 cell development in a single, linear pathway with its direct transcriptional activator ASCIZ (ATMIN/ZNF822), and that the two genes also have complementary functions during late B-2 cell development...
September 18, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28921589/susceptibility-behaviour-and-retention-of-the-parasitic-salmon-louse-lepeophtheirus-salmonis-differ-with-atlantic-salmon-population-origin
#3
S Bui, S Dalvin, T Dempster, O F Skulstad, R B Edvardsen, A Wargelius, F Oppedal
Atlantic salmon populations across the world have diverse ecological and evolutionary histories, from wild anadromous or landlocked, to domestication and genetic modification. The natural host behaviours confer protection from infestation by ectoparasitic salmon lice Lepeophtheirus salmonis, yet whether genetic origin results in different behaviours and thus susceptibility to infestation is unknown. In common garden experiments, we tested antiparasite behaviours, susceptibility and retention of salmon lice in wild anadromous, wild landlocked, domesticated and genetically modified domesticated strains...
September 17, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28921569/murine-red-blood-cells-from-genetically-distinct-donors-cross-regulate-when-stored-together
#4
Ariel Hay, Heather L Howie, Hayley R Waterman, Karen de Wolski, James C Zimring
BACKGROUND: Donor variability of red blood cell (RBC) storage has been observed in both humans and animal models. We utilized a strain of mice with RBCs known to store well (B6) and a strain known to store poorly (FVB) to test the hypothesis that RBCs affected the storage of other RBCs. STUDY DESIGN AND METHODS: Five strains of mice were used: 1) transgenic B6 mice expressing green fluorescent protein (GFP) in their RBCs (GFP.B6), 2) wild-type B6 mice, 3) wild-type FVB mice, 4) F1 crosses between GFP...
September 16, 2017: Transfusion
https://www.readbyqxmd.com/read/28921508/selection-on-skewed-characters-and-the-paradox-of-stasis
#5
Suzanne Bonamour, Céline Teplitsky, Anne Charmantier, Pierre-André Crochet, Luis-Miguel Chevin
Observed phenotypic responses to selection in the wild often differ from predictions based on measurements of selection and genetic variance. An overlooked hypothesis to explain this paradox of stasis is that a skewed phenotypic distribution affects natural selection and evolution. We show through mathematical modelling that, when a trait selected for an optimum phenotype has a skewed distribution, directional selection is detected even at evolutionary equilibrium, where it causes no change in the mean phenotype...
September 18, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28920951/srebp-controlled-glucose-metabolism-is-essential-for-nk-cell-functional-responses
#6
Nadine Assmann, Katie L O'Brien, Raymond P Donnelly, Lydia Dyck, Vanessa Zaiatz-Bittencourt, Róisín M Loftus, Paul Heinrich, Peter J Oefner, Lydia Lynch, Clair M Gardiner, Katja Dettmer, David K Finlay
Activated natural killer (NK) cells engage in a robust metabolic response that is required for normal effector function. Using genetic, pharmacological and metabolic analyses, we demonstrated an essential role for Srebp transcription factors in cytokine-induced metabolic reprogramming of NK cells that was independent of their conventional role in the control of lipid synthesis. Srebp was required for elevated glycolysis and oxidative phosphorylation and promoted a distinct metabolic pathway configuration in which glucose was metabolized to cytosolic citrate via the citrate-malate shuttle...
September 18, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28920398/-fermentation-purification-and-immunogenicity-evaluation-of-hepatitis-e-virus-like-particles-expressed-in-hansenula-polymorpha
#7
Caixia Su, Li Li, Zhenji Jin, Xudong Han, Ping Zhao, Lin Wang, Chunhu Jiang, Yueli Wang, Wenwen Wang, Deqi Xu, Naishuo Zhu
To develop a new recombinant hepatitis E vaccine, we used Hansenula polymorpha expression system to express recombinant hepatitis E virus-like particles (HEV VLPs), to construct a recombinant engineered strain HP/HEV2.3. The fermentation conditions and purification process were studied next. The first working seed lots were fermented in liquid culture, and the fermentation products were collected, then crushed, clarified, purified by ultrafiltration, silica gel adsorbed and desorbed, concentrated by ultrafiltration, purified by liquid chromatography and sterilized by filtration...
April 25, 2017: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
https://www.readbyqxmd.com/read/28919504/cryptic-elevational-zonation-in-trapdoor-spiders-araneae-antrodiaetidae-aliatypus-janus-complex-from-the-california-southern-sierra-nevada
#8
James Starrett, Cheryl Y Hayashi, Shahan Derkarabetian, Marshal Hedin
The relative roles of ecological niche conservatism versus niche divergence in promoting montane speciation remains an important topic in biogeography. Here, our aim was to test whether lineage diversification in a species complex of trapdoor spiders corresponds with riverine barriers or with an ecological gradient associated with elevational tiering. Aliatypus janus was sampled from throughout its range, with emphasis on populations in the southern Sierra Nevada Mountains of California. We collected multi-locus genetic data to generate a species tree for A...
September 15, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28919364/forward-and-reverse-genetics-approaches-to-uncover-metabolic-aging-pathways-in-caenorhabditis-elegans
#9
REVIEW
Arwen W Gao, Jelmi Uit de Bos, Mark G Sterken, Jan E Kammenga, Reuben L Smith, Riekelt H Houtkooper
The biological mechanisms of aging have been studied in depth and prominent findings in this field promote the development of new therapies for age-associated disorders. Various model organisms are used for research on aging; among these, the nematode Caenorhabditis elegans has been widely used and has provided valuable knowledge in determining the regulatory mechanisms driving the aging process. Many genes involved in lifespan regulation are associated with metabolic pathways and are influenced by genetic and environmental factors...
September 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28919208/genetics-of-clubfoot-recent-progress-and-future-perspectives
#10
REVIEW
Sulman Basit, Khalid I Khoshhal
Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle and foot. It results from structural defects of several tissues of foot and lower leg leading to abnormal positioning of foot and ankle joints. TEV can lead to long-lasting functional disability, malformation and discomfort if left untreated. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the molecular players and signalling pathways underlying TEV disorder...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28919077/engineering-quantitative-trait-variation-for-crop-improvement-by-genome-editing
#11
Daniel Rodríguez-Leal, Zachary H Lemmon, Jarrett Man, Madelaine E Bartlett, Zachary B Lippman
Major advances in crop yields are needed in the coming decades. However, plant breeding is currently limited by incremental improvements in quantitative traits that often rely on laborious selection of rare naturally occurring mutations in gene-regulatory regions. Here, we demonstrate that CRISPR/Cas9 genome editing of promoters generates diverse cis-regulatory alleles that provide beneficial quantitative variation for breeding. We devised a simple genetic scheme, which exploits trans-generational heritability of Cas9 activity in heterozygous loss-of-function mutant backgrounds, to rapidly evaluate the phenotypic impact of numerous promoter variants for genes regulating three major productivity traits in tomato: fruit size, inflorescence branching, and plant architecture...
September 13, 2017: Cell
https://www.readbyqxmd.com/read/28918941/modulation-of-%C3%AE-and-%C3%AE-secretases-as-early-prevention-against-alzheimer-s-disease
#12
REVIEW
Iryna Voytyuk, Bart De Strooper, Lucía Chávez-Gutiérrez
The genetic evidence implicating amyloid-β in the initial stage of Alzheimer's disease is unequivocal. However, the long biochemical and cellular prodromal phases of the disease suggest that dementia is the result of a series of molecular and cellular cascades whose nature and connections remain unknown. Therefore, it is unlikely that treatments directed at amyloid-β will have major clinical effects in the later stages of the disease. We discuss the two major candidate therapeutic targets to lower amyloid-β in a preventive mode, i...
August 10, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28918937/a-predictive-model-for-selective-targeting-of-the-warburg-effect-through-gapdh-inhibition-with-a-natural-product
#13
Maria V Liberti, Ziwei Dai, Suzanne E Wardell, Joshua A Baccile, Xiaojing Liu, Xia Gao, Robert Baldi, Mahya Mehrmohamadi, Marc O Johnson, Neel S Madhukar, Alexander A Shestov, Iok I Christine Chio, Olivier Elemento, Jeffrey C Rathmell, Frank C Schroeder, Donald P McDonnell, Jason W Locasale
Targeted cancer therapies that use genetics are successful, but principles for selectively targeting tumor metabolism that is also dependent on the environment remain unknown. We now show that differences in rate-controlling enzymes during the Warburg effect (WE), the most prominent hallmark of cancer cell metabolism, can be used to predict a response to targeting glucose metabolism. We establish a natural product, koningic acid (KA), to be a selective inhibitor of GAPDH, an enzyme we characterize to have differential control properties over metabolism during the WE...
September 8, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28918577/microarray-based-snp-genotyping-to-identify-genetic-risk-factors-of-triple-negative-breast-cancer-tnbc-in-south-indian-population
#14
M Aravind Kumar, Vineeta Singh, Shaik Mohammad Naushad, Uday Shanker, M Lakshmi Narasu
In the view of aggressive nature of Triple-Negative Breast cancer (TNBC) due to the lack of receptors (ER, PR, HER2) and high incidence of drug resistance associated with it, a case-control association study was conducted to identify the contributing genetic risk factors for Triple-negative breast cancer (TNBC). A total of 30 TNBC patients and 50 age and gender-matched controls of Indian origin were screened for 9,00,000 SNP markers using microarray-based SNP genotyping approach. The initial PLINK association analysis (p < 0...
September 16, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28918538/genetic-manipulation-of-borrelia-spp
#15
Dan Drecktrah, D Scott Samuels
The spirochetes Borrelia (Borreliella) burgdorferi and Borrelia hermsii, the etiologic agents of Lyme disease and relapsing fever, respectively, cycle in nature between an arthropod vector and a vertebrate host. They have extraordinarily unusual genomes that are highly segmented and predominantly linear. The genetic analyses of Lyme disease spirochetes have become increasingly more sophisticated, while the age of genetic investigation in the relapsing fever spirochetes is just dawning. Molecular tools available for B...
September 17, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28918451/quantitative-18-f-dopa-pet-ct-in-pheochromocytoma-the-relationship-between-tumor-secretion-and-its-biochemical-phenotype
#16
Vincent Amodru, Carole Guerin, Sarkis Delcourt, Pauline Romanet, Anderson Loundou, Bruna Viana, Thierry Brue, Frédéric Castinetti, Frédéric Sebag, Karel Pacak, David Taïeb
INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and a PHEO secretory profile has not been specifically evaluated. MATERIALS AND METHODS: Fifty-six patients (56% females, median age: 47.5 yrs) with non-metastatic PHEO, evaluated by (18)F-FDOPA PET/CT, were included in this retrospective study. Forty-five patients had negative genetic testing (80...
September 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28918301/mathematical-fundamentals-for-the-noise-immunity-of-the-genetic-code
#17
Elena Fimmel, Lutz Strüngmann
Symmetry is one of the essential and most visible patterns that can be seen in nature. Starting from the left-right symmetry of the human body, all types of symmetry can be found in crystals, plants, animals and nature as a whole. Similarly, principals of symmetry are also some of the fundamental and most useful tools in modern mathematical natural science that play a major role in theory and applications. As a consequence, it is not surprising that the desire to understand the origin of life, based on the genetic code, forces us to involve symmetry as a mathematical concept...
September 13, 2017: Bio Systems
https://www.readbyqxmd.com/read/28917540/galba-truncatula-and-fasciola-hepatica-genetic-costructures-and-interactions-with-intermediate-host-dispersal
#18
Ana C Correa, Thierry De Meeûs, Gilles Dreyfuss, Daniel Rondelaud, Sylvie Hurtrez-Boussès
Antagonistic interactions between hosts and parasites are key structuring forces in natural populations. Demographic factors like extinction, migration and the effective population size shape host-parasite metapopulational dynamics. Therefore, to understand the evolution of host-parasite systems it is necessary to study the distribution of the genetic variation of both entities simultaneously. In this paper, we investigate the population genetics co-structure of parasites and hosts within a metapopulation of the liver fluke, Fasciola hepatica, and two of its intermediate hosts, the main intermediate host in Europe, Galba truncatula, and a new intermediate host, Omphiscola glabra, in Central France...
September 13, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28917530/overcoming-key-biological-barriers-to-cancer-drug-delivery-and-efficacy
#19
Susy M Kim, Peggy H Faix, Jan E Schnitzer
Poor delivery efficiency continues to hamper the effectiveness of cancer therapeutics engineered to destroy solid tumors using different strategies such as nanocarriers, targeting agents, and matching treatments to specific genetic mutations. All contemporary anti-cancer agents are dependent upon passive transvascular mechanisms for their delivery into solid tumors. The therapeutic efficacies of our current drug arsenal could be significantly improved with an active delivery strategy. Here, we discuss how drug delivery and therapeutic efficacy is greatly hindered by barriers presented by the vascular endothelial cell layer and by the aberrant nature of tumor blood vessels in general...
September 13, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28917501/personalized-translational-epilepsy-research-novel-approaches-and-future-perspectives-part-i-clinical-and-network-analysis-approaches
#20
REVIEW
Felix Rosenow, Natascha van Alphen, Albert Becker, Andreas Chiocchetti, Ralf Deichmann, Thomas Deller, Thomas Freiman, Christine M Freitag, Johannes Gehrig, Anke M Hermsen, Peter Jedlicka, Christian Kell, Karl Martin Klein, Susanne Knake, Dimitri M Kullmann, Stefan Liebner, Braxton A Norwood, Diana Omigie, Karlheinz Plate, Andreas Reif, Philipp S Reif, Yvonne Reiss, Jochen Roeper, Michael W Ronellenfitsch, Stephanie Schorge, Gerhard Schratt, Stephan W Schwarzacher, Joachim P Steinbach, Adam Strzelczyk, Jochen Triesch, Marlies Wagner, Matthew C Walker, Frederic von Wegner, Sebastian Bauer
Despite the availability of more than 15 new "antiepileptic drugs", the proportion of patients with pharmacoresistant epilepsy has remained constant at about 20-30%. Furthermore, no disease-modifying treatments shown to prevent the development of epilepsy following an initial precipitating brain injury or to reverse established epilepsy have been identified to date. This is likely in part due to the polyetiologic nature of epilepsy, which in turn requires personalized medicine approaches. Recent advances in imaging, pathology, genetics and epigenetics have led to new pathophysiological concepts and the identification of monogenic causes of epilepsy...
September 13, 2017: Epilepsy & Behavior: E&B
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