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https://www.readbyqxmd.com/read/29786868/cis-acting-allele-specific-expression-ase-differences-induced-by-alcohol-and-impacted-by-sex-as-well-as-parental-genotype-of-origin
#1
Chiao-Ling Lo, Lawrence Lumeng, Richard L Bell, Tiebing Liang, Amy C Lossie, Williams M Muir, Feng C Zhou
BACKGROUND: Alcohol use disorders (AUDs) are influenced by complex interactions between the genetics of the individual and their environment. We have previously identified hundreds of polygenic genetic variants between the selectively bred high and low alcohol drinking (HAD and LAD) rat lines. Here we report allele specific expression (ASE) differences, between the HAD2 and LAD2 rat lines. METHODS: The HAD2 and LAD2 rats which have been sequenced were reciprocally crossed to generate 10 litters of F1 progeny...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786646/metabolic-reprogramming-by-3-iodothyronamine-t1am-a-new-perspective-to-reverse-obesity-through-co-regulation-of-sirtuin-4-and-6-expression
#2
Fariba M Assadi-Porter, Hannah Reiland, Martina Sabatini, Leonardo Lorenzini, Vittoria Carnicelli, Micheal Rogowski, Ebru S Selen Alpergin, Marco Tonelli, Sandra Ghelardoni, Alessandro Saba, Riccardo Zucchi, Grazia Chiellini
Obesity is a complex disease associated with environmental and genetic factors. 3-Iodothyronamine (T1AM) has revealed great potential as an effective weight loss drug. We used metabolomics and associated transcriptional gene and protein expression analysis to investigate the tissue specific metabolic reprogramming effects of subchronic T1AM treatment at two pharmacological daily doses (10 and 25 mg/kg) on targeted metabolic pathways. Multi-analytical results indicated that T1AM at 25 mg/kg can act as a novel master regulator of both glucose and lipid metabolism in mice through sirtuin-mediated pathways...
May 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29785273/gene-regulation-associated-with-sexual-development-and-female-fertility-in-different-isolates-of-trichoderma-reesei
#3
Christoph Dattenböck, Doris Tisch, Andre Schuster, Alberto Alonso Monroy, Wolfgang Hinterdobler, Monika Schmoll
Background: Trichoderma reesei is one of the most frequently used filamentous fungi in industry for production of homologous and heterologous proteins. The ability to use sexual crossing in this fungus was discovered several years ago and opens up new perspectives for industrial strain improvement and investigation of gene regulation. Results: Here we investigated the female sterile strain QM6a in comparison to the fertile isolate CBS999.97 and backcrossed derivatives of QM6a, which have regained fertility (FF1 and FF2 strains) in both mating types under conditions of sexual development...
2018: Fungal Biology and Biotechnology
https://www.readbyqxmd.com/read/29785012/multiplex-assessment-of-protein-variant-abundance-by-massively-parallel-sequencing
#4
Kenneth A Matreyek, Lea M Starita, Jason J Stephany, Beth Martin, Melissa A Chiasson, Vanessa E Gray, Martin Kircher, Arineh Khechaduri, Jennifer N Dines, Ronald J Hause, Smita Bhatia, William E Evans, Mary V Relling, Wenjian Yang, Jay Shendure, Douglas M Fowler
Determining the pathogenicity of genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes requires generalizable, scalable assays. We describe variant abundance by massively parallel sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance simultaneously. We apply VAMP-seq to quantify the abundance of 7,801 single-amino-acid variants of PTEN and TPMT, proteins in which functional variants are clinically actionable...
May 21, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29784665/srebf1-activity-is-regulated-by-an-ar-mtor-nuclear-axis-in-prostate-cancer
#5
Etienne Audet-Walsh, Mathieu Vernier, Tracey Yee, Chloe E Laflamme, Susan Li, Yonghong Chen, Vincent Giguere
Reprogramming of cellular metabolism is an important feature of prostate cancer (PCa), including altered lipid metabolism. Recently, it was observed that the nuclear fraction of mTOR is essential for the androgen-mediated metabolic reprogramming of PCa cells. Herein, it is demonstrated that the androgen receptor (AR) and mTOR bind to regulatory regions of sterol regulatory element binding transcription factor 1 (SREBF1) to control its expression, while dual activation of these signaling pathways also promotes SREBF1 cleavage and its translocation to the nucleus...
May 21, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29783050/disruption-of-ergosterol-and-tryptophan-biosynthesis-as-well-as-cell-wall-integrity-pathway-and-the-intracellular-ph-homeostasis-lead-to-mono-2-ethylhexyl-phthalate-toxicity-in-budding-yeast
#6
Linghuo Jiang, Litong Wang, Tianshu Fang, Vassilios Papadopoulos
Endocrine disrupting chemicals (EDCs) are substances in the environment, food, and consumer products that interfere with hormone homeostasis, metabolism or reproduction in humans and animals. One such EDC, the plasticizer di-(2-ethylhexyl)-phthalate (DEHP), exerts its function through its principal bioactive metabolite, mono-(2-ethylhexyl)-phthalate (MEHP). To fully understand the effects of MEHP on cellular processes and metabolism as well as to assess the impact of genetic alteration on the susceptibility to MEHP-induced toxicity, we screened MEHP-sensitive mutations on a genome-scale in the eukaryotic model organism Saccharomyces cerevisiae...
May 15, 2018: Chemosphere
https://www.readbyqxmd.com/read/29782964/an-in-vitro-approach-for-prioritization-and-evaluation-of-chemical-effects-on-glucocorticoid-receptor-mediated-adipogenesis
#7
Jessica K Hartman, Tyler Beames, Bethany Parks, Daniel Doheny, Gina Song, Alina Efremenko, Miyoung Yoon, Briana Foley, Chad Deisenroth, Patrick D McMullen, Rebecca A Clewell
Rising obesity rates worldwide have socio-economic ramifications. While genetics, diet, and lack of exercise are major contributors to obesity, environmental factors may enhance susceptibility through disruption of hormone homeostasis and metabolic processes. The obesogen hypothesis contends that chemical exposure early in development may enhance adipocyte differentiation, thereby increasing the number of adipocytes and predisposing for obesity and metabolic disease. We previously developed a primary human adipose stem cell (hASC) assay to evaluate the effect of environmental chemicals on PPARG-dependent adipogenesis...
May 18, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29782842/paraoxonase-1-pon1-l55m-among-common-variants-in-the-coding-region-of-the-paraoxonase-gene-family-may-contribute-to-the-glycemic-control-in-type-2-diabetes
#8
Abdolkarim Mahrooz, Mohammad Bagher Hashemi-Soteh, Masoud Heydari, Ruzbeh Boorank, Fatemeh Ramazani, Ali Mahmoudi, Anvarsadat Kianmehr, Ahad Alizadeh
OBJECTIVE: Genome studies have shown that the genes encoding paraoxonase 1 (PON1) and PON2 are associated with glucose metabolism. The goal of this study was to simultaneously evaluate the association between functional variants in PON1 and PON2 genes and susceptibility for type 2 diabetes (T2D) and determine whether they can affect glycemic control. METHODS: We performed a case-control study with 145 newly diagnosed patients with T2D and 148 controls. The common variants including PON1-Q192R, PON1-L55M and PON2-S311C were genotyped by PCR-based RFLP...
May 18, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29782529/molecular-effect-of-an-optn-common-variant-associated-to-paget-s-disease-of-bone
#9
Iris A L Silva, Natércia Conceição, Édith Gagnon, Jacques P Brown, M Leonor Cancela, Laëtitia Michou
Paget's disease of bone (PDB) is a chronic bone disorder and although genetic factors appear to play an important role in its pathogenesis, to date PDB causing mutations were identified only in the Sequestosome 1 (SQSTM1) gene at the PDB3 locus. PDB6 locus, also previously linked to PDB, contains several candidate genes for metabolic bone diseases. We focused our analysis in the most significantly associated variant with PDB, within the Optineurin (OPTN) gene, i.e. the common variant rs1561570. Although it was previously shown to be strongly associated with PDB in several populations, its contribution to PDB pathogenesis remains unclear...
2018: PloS One
https://www.readbyqxmd.com/read/29782204/paraoxonase-1-q192r-genotype-and-activity-affect-homocysteine-thiolactone-levels-in-humans
#10
Joanna Perła-Kaján, Kamila Borowczyk, Rafał Głowacki, Ottar Nygård, Hieronim Jakubowski
Genetic or nutritional deficiencies in 1 carbon and homocysteine (Hcy) metabolism elevate Hcy-thiolactone levels and are associated with cardiovascular and neurologic diseases. Hcy-thiolactone causes protein damage, cellular toxicity, and proatherogenic changes in gene expression in human cells and tissues. A polymorphic cardio-protective enzyme, paraoxonase 1 (PON1), hydrolyzes Hcy-thiolactone in vitro. However, whether Hcy-thiolactone hydrolysis is a physiologic function of the PON1 protein and whether polymorphisms in the PON1 gene affect Hcy-thiolactone levels in humans was unknown...
May 21, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29780558/long-lived-protein-expression-in-hydrogel-particles-towards-artificial-cells
#11
Xiaoyu Zhou, Han Wu, Miao Cui, Sze Nga Lai, Bo Zheng
Herein we report a new type of cell-mimic particle capable of long-lived protein expression. We constructed the cell-mimic particles by immobilizing the proteinaceous factors of the cell-free transcription and translation system on the polymer backbone of hydrogel particles and encapsulating the plasmid template and ribosome inside the hydrogel. With the continuous supply of nutrients and energy, the protein expression in the cell-mimic particles remained stable for at least 11 days. We achieved the regulation of protein expression in the cell-mimic particles by the usage of lac operon...
May 14, 2018: Chemical Science
https://www.readbyqxmd.com/read/29779757/neutral-lipid-storage-disease-with-myopathy-further-phenotypic-characterization-of-a-rare-pnpla2-variant
#12
Caitlin S Latimer, Jennifer Schleit, Adam Reynolds, Desiree A Marshall, Benjamin Podemski, Leo H Wang, Luis F Gonzalez-Cuyar
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy...
April 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29779728/association-between-aldehyde-dehydrogenase-2-glu504lys-polymorphism-and-alcoholic-liver-disease
#13
Binxia Chang, Shuli Hao, Longyu Zhang, Miaomiao Gao, Ying Sun, Ang Huang, Guangju Teng, Baosen Li, David W Crabb, Praveen Kusumanchi, Li Wang, Suthat Liangpunsakul, Zhengsheng Zou
BACKGROUND: Only a subset of patients with excessive alcohol use develop alcoholic liver disease (ALD), though the exact mechanism is not completely understood. Once ingested, alcohol is metabolized by 2 key oxidative enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). There are 2 major ALDH isoforms, cytosolic and mitochondrial, encoded by the aldehyde ALDH1 and ALDH2 genes, respectively. The ALDH2 gene was hypothesized to alter genetic susceptibility to alcohol dependence and alcohol-induced liver diseases...
March 20, 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29779583/mouse-models-of-peripheral-metabolic-disease
#14
REVIEW
Gabriela da Silva Xavier, David J Hodson
Metabolic disease risk is driven by defects in the function of cells that regulate energy homeostasis, as well as altered communication between the different tissues or organs that these cells occupy. Thus, it is desirable to use model organisms to understand the contribution of different cells, tissues and organs to metabolism. Mice are widely used for metabolic research, since well-characterised mouse strains (in terms of their genotype and phenotype) allow comparative studies and human disease modelling...
June 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29779018/common-and-unique-transcriptional-responses-to-dietary-restriction-and-loss-of-insulin-receptor-substrate-1-irs1-in-mice
#15
Melissa M Page, Eugene F Schuster, Manikhandan Mudaliar, Pawel Herzyk, Dominic J Withers, Colin Selman
Dietary restriction (DR) is the most widely studied non-genetic intervention capable of extending lifespan across multiple taxa. Modulation of genes, primarily within the insulin/insulin-like growth factor signalling (IIS) and the mechanistic target of rapamycin (mTOR) signalling pathways also act to extend lifespan in model organisms. For example, mice lacking insulin receptor substrate-1 (IRS1) are long-lived and protected against several age-associated pathologies. However, it remains unclear how these particular interventions act mechanistically to produce their beneficial effects...
May 20, 2018: Aging
https://www.readbyqxmd.com/read/29778216/nitric-oxide-signalling-in-yeast
#16
Rika I Astuti, Ryo Nasuno, Hiroshi Takagi
Nitric oxide (NO) is a cellular signalling molecule widely conserved among organisms, including microorganisms such as bacteria, yeasts, and fungi, and higher eukaryotes such as plants and mammals. NO is mainly produced by the activities of NO synthase (NOS) or nitrite reductase (NIR). There are several NO detoxification systems, including NO dioxygenase (NOD) and S-nitrosoglutathione reductase (GSNOR). NO homeostasis, based on the balance between NO synthesis and degradation, is important for regulating its physiological functions, since an excess of NO causes nitrosative stress due to the high reactivity of NO and NO-derived compounds...
2018: Advances in Microbial Physiology
https://www.readbyqxmd.com/read/29777385/changes-in-selection-intensity-on-the-mitogenome-of-subterranean-and-fossorial-rodents-respective-to-aboveground-species
#17
William Corrêa Tavares, Hector N Seuánez
Several rodent lineages independently acquired the ability to dig complex networks of tunnels where fossorial and subterranean species spend part or their whole life, respectively. Their underground lifestyles imposed harsh physiological demands, presumably triggering strong selective pressures on genes involved in energy metabolism like those coding for mitochondrial proteins. Moreover, underground lifestyles must have increased inbreeding and susceptibility to population bottlenecks as well as restricted migration, leading to small effective population size (Ne ) that, in turn, must have reduced the effectiveness of selection...
May 18, 2018: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29777237/dna-methylation-variant-b-vitamins-intake-and-longitudinal-change-in-body-mass-index
#18
Xiang Li, Tiange Wang, Min Zhao, Tao Huang, Dianjianyi Sun, Liyuan Han, Hoirun Nisa, Xiaoyun Shang, Yoriko Heianza, Lu Qi
BACKGROUND: Growing evidence has implicated DNA methylation (DNAm) in the regulation of body adiposity; a recent epigenome-wide association study (EWAS) identified a genetic variant determining DNAm at the SREBF1 gene that affected body mass index (BMI). OBJECTIVE: In the present study, we tested interactions between DNAm variant rs752579 and methylation metabolism-related B-vitamins (folate, vitamin B2 , vitamin B6 , and vitamin B12 ) on longitudinal change in BMI in the Women's Health Initiative Memory Study (WHIMS)...
May 17, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29776925/unravelling-the-reduction-pathway-as-alternative-metabolic-route-to-hydroxycinnamate-decarboxylation-in-lactobacillus-plantarum
#19
Laura Santamaría, Inés Reverón, Félix López de Felipe, Blanca de Las Rivas, Rosario Muñoz
Lactobacillus plantarum is the lactic acid bacterial species most frequently found in plant-food fermentations where hydroxycinnamic acids are abundant. L. plantarum efficiently decarboxylates these compounds, and also reduces them, yielding substituted phenylpropionic acids. Although the reduction step is known to be induced by a hydroxycinnamic acid, the enzymatic machinery responsible for this reduction pathway has not been yet identified and characterized. A previous study on the transcriptomic response of L...
May 18, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29776682/the-impact-of-apolipoprotein-e-alleles-on-cognitive-performance-in-patients-with-parkinson-s-disease
#20
Anna Pierzchlińska, Monika Białecka, Mateusz Kurzawski, Jarosław Sławek
Apolipoprotein E (ApoE) is a vital component of several lipoproteins and plays a major role in lipid metabolism. APOE gene comprises of three alleles determined by two single nucleotide polymorphisms (rs429358 and rs7412) resulting in the protein isoforms, among which ApoE4 is a confirmed risk factor for Alzheimer's Disease. However, the impact of APOE genotypes on Parkinson's Disease Dementia (PDD) is still inconclusive. The PDD diagnostic criteria are very inconsistent, and could be complemented with genetic factors...
May 5, 2018: Neurologia i Neurochirurgia Polska
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