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Physiological Genomics

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https://www.readbyqxmd.com/read/28087757/alternative-transcription-of-sodium-bicarbonate-transporter-slc4a7-gene-enhanced-by-single-nucleotide-polymorphisms
#1
Hae Jeong Park, Soojung Lee, Eunji Ju, Jayre A Jones, Inyeong Choi
Genome-wide association studies have identified the single nucleotide polymorphism (SNP) rs3278 in the human SLC4A7 gene as one of the marker loci for addiction vulnerability. This marker is located in an intron of the gene, and its genomic role has been unknown. In this study, we examined rs3278 and three adjacent SNPs prevalent in alcoholics for their effects on an alternative promoter that would lead to the production of the N-terminally truncated protein NBCn1ΔN450, missing the first 450 amino acids. Analysis of the transcription start site database and a promoter prediction algorithm identified a cluster of three promoters in intron 7 and two short CpG-rich sites in intron 6...
January 13, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28087756/fine-mapping-of-genes-determining-extrafusal-fiber-properties-in-murine-soleus-muscle
#2
Andrew Carroll, Riyan Cheng, Elaina Collie-Duguid, Caroline Meharg, Michael E Scholz, Steven N Fiering, Jennifer L Fields, Abraham A Palmer, Arimantas Lionikas
INTRODUCTION: Muscle fiber cross-sectional area (CSA) and proportion of different fiber types are important determinants of muscle function and overall metabolism. Genetic variation plays a substantial role in phenotypic variation of these traits, however, the underlying genes remain poorly understood. AIMS: This study aimed to map quantitative trait loci (QTL) affecting differences in soleus muscle fiber traits between the LG/J and SM/J mouse strains. METHODS: Fiber number, CSA, and proportion of oxidative type I fibers were assessed in the soleus of 334 genotyped male and female mice of the F34 generation of advanced intercross lines (AIL) derived from the LG/J and SM/J strains...
January 13, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28062686/the-gstp1-c-313a-g-polymorphism-in-russian-and-polish-athletes
#3
Aleksandra Zarebska, Zbigniew Jastrzębski, Ildus I Ahmetov, Piotr Zmijewski, Pawel Cieszczyk, Agata Leonska-Duniec, Marek Sawczuk, Katarzyna Leznicka, Grzegorz Trybek, Ekaterina A Semenova, Agnieszka Maciejewska-Skrendo
The GSTP1 gene encodes glutathione S-transferase P1 which is a member of glutathione S-transferases (GSTs) that are a family of enzymes playing an important role in detoxification and in the antioxidant defense system. There were some the evidence indicating that GSTP1 c.313A>G polymorphism may be beneficial for exercise performance. Therefore, we have decided to verify the association between the frequency of GSTP1 c.313A>G variants, physical performance and athlete's status in two cohorts: in a group of Russian athletes (n=507) and in an independent population of Polish athletes (n=510) in a replication study...
January 6, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28039431/data-integration-in-physiology-using-bayes-rule-and-minimum-bayes-factors-deubiquitylating-enzymes-in-the-renal-collecting-duct
#4
Zhe Xue, Jia-Xu Chen, Yue Zhao, Barbara Medvar, Mark A Knepper
A major challenge in physiology is to exploit the many large-scale datasets available from "-omic" studies in order to seek answers to key physiological questions. In previous studies, Bayes' Theorem has been used for this purpose. This approach requires a means to map continuously distributed experimental data to probabilities (likelihood values) in order to derive posterior probabilities from the combination of prior probabilities and new data. Here, we introduce the use of Minimum Bayes' Factors for this purpose and illustrate the approach by addressing a physiological question, "Which deubiquitylating enzymes (DUBs) encoded by mammalian genomes are most likely to regulate plasma membrane transport processes in renal cortical collecting duct principal cells?" To do this, we have created a comprehensive online database of 110 DUBs present in the mammalian genome (https://hpcwebapps...
December 30, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28039430/inflammation-and-vascular-smooth-muscle-cell-dedifferentiation-following-carotid-artery-ligation
#5
Brian Paul Herring, April M Hoggatt, Sarah L Griffith, Jeanette N McClintick, Patricia Jane Gallagher
OBJECTIVE: Following vascular injury medial smooth muscle cells dedifferentiate and migrate through the internal elastic lamina where they form a neointima. The goal of the current study was to identify changes in gene expression that occur prior to the development of neointima and are associated with the early response to injury. Approach and Results: Vascular injury was induced in C57Bl/6 mice and in Myh11-creER(T2) mTmG reporter mice by complete ligation of the left carotid artery...
December 30, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28039429/limited-potential-of-genetic-predisposition-scores-to-predict-muscle-mass-and-strength-performance-in-flemish-caucasians-between-19-73-years-of-age
#6
Ruben Charlier, Maarten Caspers, Sara Knaeps, Evelien Mertens, Diether Lambrechts, Johan Lefevre, Martine Thomis
Since both muscle mass and strength performance are polygenic in nature, the current study compared four Genetic Predisposition Scores (GPS) in their ability to predict these phenotypes. Data were gathered within the framework of the first generation Flemish Policy Research Centre 'Sport, Physical Activity and Health' (2002-2004). Results are based on muscle characteristics data of 565 Flemish Caucasians (19-73 yr, 365 men). Skeletal muscle mass (SMM) was determined using bioelectrical impedance. The Biodex dynamometer was used to measure isometric (PTstatic120°) and isokinetic strength (PTdynamic60° and PTdynamic240°), ballistic movement speed (S20%) and muscular endurance (Work) of the knee extensors...
December 30, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28011884/pharmacogenetics-and-pathophysiology-of-cacna1s-mutations-in-malignant-hyperthermia
#7
Teresa Ann Beam, Emily F Loudermilk, David F Kisor
A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malignant hyperthermia susceptibility type 5 (MHS5; MIM #60188) is presented. Malignant hyperthermia (MH) is a life-threatening hypermetabolic state of skeletal muscle usually induced by volatile, halogenated anesthetics and/or the depolarizing neuromuscular blocker succinylcholine. In addition to ryanodine receptor 1 (RYR1) mutations, several CACNA1S mutations are known to be risk factors for increased susceptibility to MH (MHS)...
December 23, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28011883/single-cell-transcriptomic-profiling-of-mouse-pancreatic-progenitors
#8
Diana E Stanescu, Reynold Yu, Kyoung Jae Won, Doris A Stoffers
The heterogeneity of the developing pancreatic epithelium and low abundance of endocrine progenitors limits the information derived from traditional expression studies. To identify genes that characterize early developmental tissues composed of multiple progenitor lineages, we applied single-cell RNA-Seq to embryonic day (e)13.5 mouse pancreata and performed integrative analysis with single cell data from mature pancreas. We identified subpopulations expressing macrophage or endothelial markers and new pancreatic progenitor markers...
December 23, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28011882/mycophenolate-mofetil-prevents-cerebrovascular-injury-in-stroke-prone-spontaneously-hypertensive-rats
#9
Isha Dhande, Yaming Zhu, Michael C Braun, M John Hicks, Scott E Wenderfer, Peter A Doris
BACKGROUND AND PURPOSE: Stroke-prone spontaneously hypertensive rats (SHR-A3) develop strokes and progressive kidney disease as a result of naturally occurring genetic variations. We recently identified genetic variants in immune signaling pathways that contribute to end-organ injury. The present study was designed to test the hypothesis that a dysregulated immune response promotes stroke susceptibility. METHODS: 20-week old male SHR-A3 rats were salt loaded and treated with the immunosuppressant mycophenolate mofetil (MMF, 25 mg/kg/day, p...
December 23, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28011881/alterations-in-the-gut-microbiota-can-elicit-hypertension-in-rats
#10
Sareema Adnan, James W Nelson, Nadim J Ajami, Venugopal R Venna, Joseph F Petrosino, Robert M Bryan, David J Durgan
Gut dysbiosis has been linked to cardiovascular diseases including hypertension. We tested the hypothesis that hypertension could be induced in a normotensive strain of rats or attenuated in a hypertensive strain of rats by exchanging the gut microbiota between the two strains. Cecal contents from spontaneously hypertensive stroke prone rats (SHRSP) were pooled. Similarly, cecal contents from normotensive WKY rats were pooled. Four week old recipient WKY and SHR rats, previously treated with antibiotics to reduce the native microbiota, were gavaged with WKY or SHRSP microbiota, resulting in four groups; WKY with WKY microbiota (WKY g-WKY), WKY with SHRSP microbiota (WKY g-SHRSP), SHR with SHRSP microbiota (SHR g-SHRSP), and SHR with WKY microbiota (SHR g-WKY)...
December 23, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28011880/roles-of-estrogen-receptor-alpha-in-mediating-lifespan-the-hypothalamic-deregulation-hypothesis
#11
Arvin M Gouw, Gizem Efe, Rita Barakat, Andrew Preecha, Movarid Mehdizadeh, Steven A Garan, George A Brooks
In several species caloric restriction (CR) extends lifespan. In this paper we integrate data from studies on CR and other sources to articulate the Hypothalamic Deregulation Hypothesis by which Estrogen Receptor-alpha (ER-α) signaling in the hypothalamus and limbic system affects lifespan under the stress of CR in mammals. ER-α is one of two principal estrogen-binding receptors differentially expressed in the amygdala, hippocampus, and several key hypothalamic nuclei: the Arcuate nucleus (ARN), Preoptic Area (POA), Ventromedial nucleus (VMN), Antero Ventral Periventricular Nucleus (AVPV), Paraventricular nucleus (PVN), Supraoptic nucleus (SON), and Suprachiasmatic nucleus (SCN)...
December 23, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27940566/glucose-regulates-the-intrinsic-inflammatory-response-of-the-heart-to-surgically-induced-hypothermic-ischemic-arrest-and-reperfusion
#12
Ahmed S Bux, Merry L Lindsey, Hernan G Vasquez, Heinrich Taegtmeyer, Romain Harmancey
We investigated the isolated working rat heart as a model to study early transcriptional remodeling induced in the setting of open heart surgery and stress hyperglycemia. Hearts of male Sprague Dawley rats were cold-arrested in Krebs-Henseleit buffer and subjected to 60 minutes normothermic reperfusion in the working mode with buffer supplemented with non-carbohydrate substrates plus glucose (25 mM) or mannitol (25 mM; osmotic control). Gene expression profiles were determined by microarray analysis and compared to that of non-perfused hearts...
December 9, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27940565/differentially-expressed-genes-and-gene-networks-involved-in-pig-ovarian-follicular-atresia
#13
Elena Terenina, Stephane Fabre, Agnes Bonnet, Danielle Monniaux, Christele Robert-Granie, Magali SanCristobal, Julien Sarry, Florence Vignoles, Florence Gondret, Philippe Monget, Gwenola Tosser-Klopp
Ovarian folliculogenesis corresponds to the development of follicles leading to either ovulation or degeneration, this latter process being called atresia. Even if atresia involves apoptosis, its mechanism is not well-understood. The objective of this project was to analyse global gene expression in pig granulosa cells of ovarian follicles during atresia. The transcriptome analysis was performed using 9216 cDNAs microarray to identify gene networks and candidate genes involved in pig ovarian follicular atresia...
December 9, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27913688/left-ventricle-transcriptomic-analysis-reveals-connective-tissue-accumulation-associates-with-initial-age-dependent-decline-in-v%C3%AC-o2peak-from-its-lifetime-apex
#14
Gregory N Ruegsegger, Ryan G Toedebusch, Joshua F Braselton, Thomas E Childs, Frank W Booth
Peak oxygen consumption (V̇O2peak) strongly predicts morbidity and mortality better than other established risk factors, yet mechanisms associated with its age-associated decline are unknown. Our lab has shown that V̇O2peak first begins to decrease at the same age of 19-20 weeks old in both sedentary and wheel-running, female Wistar rats (Toedebusch et al., Physiol Genomics. 48:101-15, 2016). Here, we employed a total systemic approach using unsupervised interrogation of mRNA with RNA-sequencing. The purpose of our study was to analyze transcriptomic profiles from both sedentary (SED) and wheel-running (RUN) conditions as a strategy to identify pathways in the left ventricle that may contribute to the initial reductions in V̇O2peak occurring between 19 and 27 weeks of age...
December 2, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27815535/pattern-analysis-uncovers-a-chronic-ethanol-induced-disruption-of-the-switch-like-dynamics-of-c-ebp-%C3%AE-and-c-ebp-%C3%AE-genome-wide-binding-during-liver-regeneration
#15
Lakshmi Kuttippurathu, Biswanath Patra, Daniel Cook, Jan B Hoek, Rajanikanth Vadigepalli
Chronic ethanol intake impairs liver regeneration through a system-wide alteration in the regulatory networks driving the response to injury. Our study focused on the initial phase of response to 2/3rd partial hepatectomy (PHx) to investigate how adaptation to chronic ethanol intake affects the genome-wide binding profiles of the transcription factors C/EBP-β and C/EBP-α. These factors participate in complementary and often opposing functions for maintaining cellular differentiation, regulating metabolism, and governing cell growth during liver regeneration...
January 1, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/27815534/biological-roles-of-micrornas-in-the-control-of-insulin-secretion-and-action
#16
REVIEW
Sophie Calderari, Malika R Diawara, Alois Garaud, Dominique Gauguier
microRNAs (miRNAs) are intracellular and circulating molecular components contributing to genome expression control through binding mRNA targets, which generally results in downregulated mRNA expression. One miRNA can target several mRNAs, and one transcript can be targeted by several miRNAs, resulting in complex fine-tuning of regulation of gene networks and signaling pathways. miRNAs regulate metabolism, adipocyte differentiation, pancreatic development, β-cell mass, insulin biosynthesis, secretion, and signaling, and their role in diabetes and obesity is emerging...
January 1, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/27789734/elevated-k-channel-activity-opposes-vasoconstrictor-response-to-serotonin-in-cerebral-arteries-of-the-fawn-hooded-hypertensive-rat
#17
Mallikarjuna R Pabbidi, Richard J Roman
Previous studies suggest that middle cerebral arteries (MCAs) of Fawn Hooded Hypertensive (FHH) rats exhibit impaired myogenic response and introgression of a small region of Brown Norway chromosome 1 containing 15 genes restored the response in FHH.1(BN) congenic rat. The impaired myogenic response in FHH rats is associated with an increase in the activity of the large conductance potassium (BK) channel in vascular smooth muscle cells (VSMCs). The present study examined whether the increased BK channel function in FHH rat alters vasoconstrictor response to serotonin (5-HT)...
January 1, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/27994048/corrigendum
#18
(no author information available yet)
No abstract text is available yet for this article.
December 1, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27815536/partial-deficiency-of-ctrp12-alters-hepatic-lipid-metabolism
#19
Stefanie Y Tan, Hannah C Little, Xia Lei, Shuoyang Li, Susana Rodriguez, G William Wong
Secreted hormones play pivotal roles in tissue cross talk to maintain physiologic blood glucose and lipid levels. We previously showed that C1q/TNF-related protein 12 (CTRP12) is a novel secreted protein involved in regulating glucose metabolism whose circulating levels are reduced in obese and insulin-resistant mouse models. Its role in lipid metabolism, however, is unknown. Using a novel heterozygous mouse model, we show that the loss of a single copy of the Ctrp12 gene (also known as Fam132a and adipolin) affects whole body lipid metabolism...
December 1, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27789736/impact-of-myh6-variants-in-hypoplastic-left-heart-syndrome
#20
Aoy Tomita-Mitchell, Karl D Stamm, Donna K Mahnke, Min-Su Kim, Pip M Hidestrand, Huan Ling Liang, Mary A Goetsch, Mats Hidestrand, Pippa Simpson, Andrew N Pelech, James S Tweddell, D Woodrow Benson, John W Lough, Michael E Mitchell
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome. We performed next-generation sequencing on a multigenerational family with a high prevalence of CHD/HLHS, identifying a rare variant in the α-myosin heavy chain (MYH6) gene...
December 1, 2016: Physiological Genomics
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