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Metabolic genetics

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https://www.readbyqxmd.com/read/28723948/integrative-functional-analyses-using-rainbow-trout-selected-for-tolerance-to-plant-diets-reveal-nutrigenomic-signatures-for-soy-utilization-without-the-concurrence-of-enteritis
#1
Jason Abernathy, Andreas Brezas, Kevin R Snekvik, Ronald W Hardy, Ken Overturf
Finding suitable alternative protein sources for diets of carnivorous fish species remains a major concern for sustainable aquaculture. Through genetic selection, we created a strain of rainbow trout that outperforms parental lines in utilizing an all-plant protein diet and does not develop enteritis in the distal intestine, as is typical with salmonids on long-term plant protein-based feeds. By incorporating this strain into functional analyses, we set out to determine which genes are critical to plant protein utilization in the absence of gut inflammation...
2017: PloS One
https://www.readbyqxmd.com/read/28723913/prebiotic-selection-for-motifs-in-a-model-of-template-free-elongation-of-polymers-within-compartments
#2
Grant Kinsler, Sam Sinai, Nicholas Keone Lee, Martin A Nowak
The transition from prelife where self-replication does not occur, to life which exhibits self-replication and evolution, has been a subject of interest for many decades. Membranes, forming compartments, seem to be a critical component of this transition as they provide several concurrent benefits. They maintain localized interactions, generate electro-chemical gradients, and help in selecting cooperative functions as they arise. These functions pave the way for the emergence and maintenance of simple metabolic cycles and polymers...
2017: PloS One
https://www.readbyqxmd.com/read/28722653/directing-visceral-white-adipocyte-precursors-to-a-thermogenic-adipocyte-fate-improves-insulin-sensitivity-in-obese-mice
#3
Chelsea Hepler, Mengle Shao, Jonathan Y Xia, Alexandra L Ghaben, Mackenzie J Pearson, Lavanya Vishvanath, Ankit X Sharma, Thomas S Morley, William L Holland, Rana K Gupta
Visceral adiposity confers significant risk for developing metabolic disease in obesity whereas preferential expansion of subcutaneous white adipose tissue (WAT) appears protective. Unlike subcutaneous WAT, visceral WAT is resistant to adopting a protective thermogenic phenotype characterized by the accumulation of Ucp1(+) beige/BRITE adipocytes (termed "browning"). In this study, we investigated the physiological consequences of browning murine visceral WAT by selective genetic ablation of Zfp423, a transcriptional suppressor of the adipocyte thermogenic program...
July 19, 2017: ELife
https://www.readbyqxmd.com/read/28722115/transcriptional-profiling-of-mechanically-and-genetically-sink-limited-soybeans
#4
Anne V Brown, Karen A Hudson
The absence of a reproductive sink causes physiological and morphological changes in soybean plants. These include increased accumulation of nitrogen and starch in the leaves and delayed leaf senescence. To identify transcriptional changes that occur in leaves of these sink-limited plants, we used RNAseq to compare gene expression levels in trifoliate leaves from depodded and ms6 male sterile soybean plants and control plants. In both sink-limited tissues, we observed a deferral of the expression of senescence-associated genes and a continued expression of genes associated with leaf maturity...
July 19, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#5
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721829/ngs-technologies-as-a-turning-point-in-rare-disease-research-diagnosis-and-treatment
#6
Ana Fernández-Marmiesse, Sofía Gouveia, María L Couce
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian population have a rare disease. Rare diseases are thus a common problem for clinicians and account for enormous healthcare costs worldwide due to the difficulty of establishing a specific diagnosis. In this article we review the milestones achieved in our understanding of rare diseases since the emergence of next-generation sequencing (NGS) technologies and analyze how these advances have influenced research and diagnosis...
July 18, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#7
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28721436/age-at-natural-menopause-and-risk-of-type-2-diabetes-a-prospective-cohort-study
#8
Taulant Muka, Eralda Asllanaj, Naim Avazverdi, Loes Jaspers, Najada Stringa, Jelena Milic, Symen Ligthart, M Arfan Ikram, Joop S E Laven, Maryam Kavousi, Abbas Dehghan, Oscar H Franco
AIMS/HYPOTHESIS: In this study, we aimed to examine the association between age at natural menopause and risk of type 2 diabetes, and to assess whether this association is independent of potential mediators. METHODS: We included 3639 postmenopausal women from the prospective, population-based Rotterdam Study. Age at natural menopause was self-reported retrospectively and was treated as a continuous variable and in categories (premature, <40 years; early, 40-44 years; normal, 45-55 years; and late menopause, >55 years [reference])...
July 18, 2017: Diabetologia
https://www.readbyqxmd.com/read/28721211/microbial-metal-resistance-and-metabolism-across-dynamic-landscapes-high-throughput-environmental-microbiology
#9
REVIEW
Hans Carlson, Adam Deutschbauer, John Coates
Multidimensional gradients of inorganic compounds influence microbial activity in diverse pristine and anthropogenically perturbed environments. Here, we suggest that high-throughput cultivation and genetics can be systematically applied to generate quantitative models linking gene function, microbial community activity, and geochemical parameters. Metal resistance determinants represent a uniquely universal set of parameters around which to study and evaluate microbial fitness because they represent a record of the environment in which all microbial life evolved...
2017: F1000Research
https://www.readbyqxmd.com/read/28721208/new-perspectives-on-the-regulation-of-type-ii-inflammation-in-asthma
#10
REVIEW
Mireya Becerra-Díaz, Marsha Wills-Karp, Nicola M Heller
Asthma is a chronic inflammatory disease of the lungs which has been thought to arise as a result of inappropriately directed T helper type-2 (Th2) immune responses of the lungs to otherwise innocuous inhaled antigens. Current asthma therapeutics are directed towards the amelioration of downstream consequences of type-2 immune responses (i.e. β-agonists) or broad-spectrum immunosuppression (i.e. corticosteroids). However, few approaches to date have been focused on the primary prevention of immune deviation...
2017: F1000Research
https://www.readbyqxmd.com/read/28718215/usp18-protects-against-hepatic-steatosis-and-insulin-resistance-via-its-dub-activity
#11
Shimin An, Ling-Ping Zhao, Li-Jun Shen, Siyuan Wang, Kuo Zhang, Yu Qi, Jilin Zheng, Xiao-Jing Zhang, Xue-Yong Zhu, Rong Bao, Ling Yang, Yue-Xin Lu, Zhi-Gang She, Yi-Da Tang
Non-alcoholic fatty liver disease (NAFLD) is characterized by hepatic steatosis, impaired insulin sensitivity and chronic low-grade inflammation. However, the pathogenic mechanism of NAFLD is poorly understood, which hinders the exploration of possible treatments. Here, we first report that ubiquitin-specific protease 18 (USP18), a member of the deubiquitinating (DUB) enzyme family, plays regulatory roles in NAFLD progression. The expression of USP18 was down-regulated in the livers of non-alcoholic steatohepatitis (NASH) patients and high-fat diet (HFD) induced or genetically obese mice...
July 17, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28718073/a-randomised-phase-ii-iii-study-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#12
Dawn Milliner, Bernd Hoppe, Jaap Groothoff
Primary hyperoxaluria (PH) patients overproduce oxalate because of rare genetic errors in glyoxylate metabolism. Recurrent urolithiasis and/or progressive nephrocalcinosis are PH hallmarks and can lead to kidney damage, systemic oxalosis and death. Based on previous studies, we hypothesised that treatment with the oxalate-metabolizing bacterium Oxalobacter formigenes would mediate active elimination of oxalate from the plasma to the intestine of PH patients, thereby reducing urinary oxalate excretion (Uox)...
July 17, 2017: Urolithiasis
https://www.readbyqxmd.com/read/28717845/proteomics-in-inflammatory-bowel-disease-approach-using-animal-models
#13
REVIEW
Fadi H Mourad, Yunki Yau, Valerie C Wasinger, Rupert W Leong
Recently, proteomics studies have provided important information on the role of proteins in health and disease. In the domain of inflammatory bowel disease, proteomics has shed important light on the pathogenesis and pathophysiology of inflammation and has contributed to the discovery of some putative clinical biomarkers of disease activity. By being able to obtain a large number of specimens from multiple sites and control for confounding environmental, genetic, and metabolic factors, proteomics studies using animal models of colitis offered an alternative approach to human studies...
July 17, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28717664/genetic-variation-spectrum-in-atp7b-gene-identified-in-latvian-patients-with-wilson-disease
#14
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717663/refining-genotype-phenotype-correlation-in-alstr%C3%A3-m-syndrome-through-study-of-primary-human-fibroblasts
#15
Jian-Hua Chen, Tarekegn Geberhiwot, Timothy G Barrett, Richard Paisey, Robert K Semple
BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression. METHODS: ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717391/transcriptional-mechanisms-underlying-life-history-responses-to-climate-change-in-the-three-spined-stickleback
#16
Sin-Yeon Kim, Maria M Costa, Anna Esteve-Codina, Alberto Velando
Phenotypic plasticity, the ability of an organism to express different phenotypes depending on the environment, provides an important mechanism by which an animal population can persist under rapid climate change. We experimentally tested both life-history and transcriptional responses of an ecological model species, the three-spined stickleback, to warm acclimation at the southern edge of its European range. We explored cross-environment genetic correlations of key life-history traits in male sticklebacks exposed to long-term temperature changes to examine whether the plasticity pattern was variable among genotypes by using a character-state approach...
August 2017: Evolutionary Applications
https://www.readbyqxmd.com/read/28717179/genetic-polymorphisms-and-platinum-based-chemotherapy-treatment-outcomes-in-patients-with-non-small-cell-lung-cancer-a-genetic-epidemiology-study-based-meta-analysis
#17
Li-Ming Tan, Cheng-Feng Qiu, Tao Zhu, Yuan-Xiang Jin, Xi Li, Ji-Ye Yin, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Data regarding genetic polymorphisms and platinum-based chemotherapy (PBC) treatment outcomes in patients with NSCLC are published at a growing pace, but the results are inconsistent. This meta-analysis integrated eligible candidate genes to better evaluate the pharmacogenetics of PBC in NSCLC patients. Relevant studies were retrieved from PubMed, Chinese National Knowledge Infrastructure and WANFANG databases. A total of 111 articles comprising 18,196 subjects were included for this study. The associations of genetic polymorphisms with treatment outcomes of PBC including overall response rate (ORR), overall survival (OS) and progression-free survival (PFS) were determined by analyzing the relative risk (RR), hazard ration (HR), corresponding 95% confidence interval (CI)...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28717048/rna-seq-of-rice-yellow-stem-borer-scirpophaga-incertulas-reveals-molecular-insights-during-four-larval-developmental-stages
#18
Renuka P, Maganti S Madhav, Padmakumari A P, Kalyani M Barbadikar, Sathendra K Mangrauthia, Vijaya Sudhakara Rao K, Soma S Marla, Ravindra Babu V
The yellow stem borer (YSB), Scirpophaga incertulas is a prominent pest in the rice cultivation causing serious yield losses. The larval stage is an important stage in YSB, responsible for maximum infestation. However, limited knowledge exists on biology and mechanisms underlying growth and differentiation of YSB. To understand and identify the genes involved in YSB development and infestation, so as to design pest control strategies, we performed de novo transcriptome at 1(st), 3(rd), 5(th) and 7(th) larval developmental stages employing Illumina Hi-seq...
July 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28717025/the-role-of-intraspecific-variation-in-the-ecological-and-evolutionary-success-of-diatoms-in-changing-environments
#19
REVIEW
Anna Godhe, Tatiana Rynearson
Intraspecific variation in diatoms has been shown to play a key role in species' responses to several important environmental factors such as light, salinity, temperature and nutrients. Furthermore, modelling efforts indicate that this variation within species extends bloom periods, and likely provides sufficient variability in competitive interactions between species under hydrographically variable conditions. The intraspecific variation most likely corresponds to optimal fitness in temporary microhabitats and may help to explain the paradox of the plankton...
September 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28717021/genetic-and-metabolic-engineering-in-diatoms
#20
REVIEW
Weichao Huang, Fayza Daboussi
Diatoms have attracted considerable attention due to their success in diverse environmental conditions, which probably is a consequence of their complex origins. Studies of their metabolism will provide insight into their adaptation capacity and are a prerequisite for metabolic engineering. Several years of investigation have led to the development of the genome engineering tools required for such studies, and a profusion of appropriate tools is now available for exploring and exploiting the metabolism of these organisms...
September 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
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