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https://www.readbyqxmd.com/read/28931564/towards-precision-medicine-for-hypertension-a-review-of-genomic-epigenomic-and-microbiomic-effects-on-blood-pressure-in-experimental-rat-models-and-humans
#1
REVIEW
Sandosh Padmanabhan, Bina Joe
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions that are causally associated with hypertension. In more recent times, genome-wide studies in humans have also begun to improve our understanding of the inheritance of polygenic forms of hypertension. Based on the chronological progression of research into the genetics of hypertension as the "structural backbone," this review catalogs and discusses the rat and human genetic elements mapped and implicated in blood pressure regulation...
October 1, 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28927820/a-novel-role-for-cilia-function-in-atopy-adgrv1-and-dnah5-interactions
#2
Pierre-Emmanuel Sugier, Myriam Brossard, Chloé Sarnowski, Amaury Vaysse, Andréanne Morin, Lucile Pain, Patricia Margaritte-Jeannin, Marie-Hélène Dizier, William O C M Cookson, Mark Lathrop, Miriam F Moffatt, Catherine Laprise, Florence Demenais, Emmanuelle Bouzigon
BACKGROUND: Atopy, an endotype underlying allergic diseases, has a substantial genetic component. OBJECTIVE: Our goal was to identify novel genes associated with atopy in asthma-ascertained families. METHODS: We implemented a three-step analysis strategy in three datasets: The Epidemiological study on the Genetics and Environment of Asthma (EGEA) dataset: 1,660 subjects; The Saguenay-Lac-Saint-Jean (SLSJ) dataset: 1,138 subjects; and The Medical Research Council (MRC) dataset: 446 subjects)...
September 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28922373/dynein-light-chain-regulates-adaptive-and-innate-b-cell-development-by-distinctive-genetic-mechanisms
#3
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/28920075/of-mice-and-men-empirical-support-for-the-population-based-social-epistasis-amplification-model-a-comment-on
#4
Matthew Alexandar Sarraf, Michael Anthony Woodley Of Menie
This commentary article offers new perspective on recent research investigating the behavioral and social ecological effects of a mutation related to autism spectrum disorders in mice. The authors explain the consistency of this research on mice with predictions advanced by a theory of the role of mutations in altering interorganismal gene-gene interactions (social epistasis) in social species including humans, known as the social epistasis amplification model. The potential significance of the mouse research for understanding contemporary human behavioral trends is explored...
July 2017: ENeuro
https://www.readbyqxmd.com/read/28902834/alternative-evolutionary-histories-in-the-sequence-space-of-an-ancient-protein
#5
Tyler N Starr, Lora K Picton, Joseph W Thornton
To understand why molecular evolution turned out as it did, we must characterize not only the path that evolution followed across the space of possible molecular sequences but also the many alternative trajectories that could have been taken but were not. A large-scale comparison of real and possible histories would establish whether the outcome of evolution represents an optimal state driven by natural selection or the contingent product of historical chance events; it would also reveal how the underlying distribution of functions across sequence space shaped historical evolution...
September 13, 2017: Nature
https://www.readbyqxmd.com/read/28894202/principal-contribution-of-hla-dq-alleles-dqb1-06-04-and-dqb1-03-01-to-disease-resistance-against-primary-biliary-cholangitis-in-a-japanese-population
#6
Michio Yasunami, Hitomi Nakamura, Katsushi Tokunaga, Minae Kawashima, Nao Nishida, Yuki Hitomi, Minoru Nakamura
Identification of the primary allele(s) in HLA class II associated diseases remains challenging because of a tight linkage between alleles of HLA-DR and -DQ loci. In the present study, we determined the genotypes of seven HLA loci (HLA-A, -B, -DRB1, -DQA1, -DQB1, -DPA1 and -DPB1) for 1200 Japanese patients with primary biliary cholangitis and 1196 controls. Observation of recombination derivatives facilitated an evaluation of the effects of individual HLA alleles consisting of disease-prone/disease-resistant HLA haplotypes...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28892511/the-equilibrium-between-antagonistic-signaling-pathways-determines-the-number-of-synapses-in-drosophila
#7
Sheila Jordán-Álvarez, Elena Santana, Sergio Casas-Tintó, Ángel Acebes, Alberto Ferrús
The number of synapses is a major determinant of behavior and many neural diseases exhibit deviations in that number. However, how signaling pathways control this number is still poorly understood. Using the Drosophila larval neuromuscular junction, we show here a PI3K-dependent pathway for synaptogenesis which is functionally connected with other previously known elements including the Wit receptor, its ligand Gbb, and the MAPkinases cascade. Based on epistasis assays, we determined the functional hierarchy within the pathway...
2017: PloS One
https://www.readbyqxmd.com/read/28860542/genetic-association-study-of-common-variants-in-tgfb1-and-il-6-with-developmental-dysplasia-of-the-hip-in-han-chinese-population
#8
Wenlong Ma, Zhuqing Zha, Ke Chen, Honggan Chen, Yixin Wu, Jianbing Ma, Sixiang Zeng, Liqiang Zhi, Shuxin Yao
Developmental dysplasia of the hip (DDH) is a congenital or developmental deformation or misalignment of the hip joint that is affected by environmental and genetic factors. Recently, polymorphisms in both TGFB1 and IL-6 have been identified as being significantly associated with hip osteoarthritis in Caucasians. In this study, we conducted a case-control study involving 4,206 Han Chinese individuals to investigate the effects of TGFB1 and IL-6 on the disease status and severity of DDH. A total of 32 single-nucleotide polymorphisms (SNPs) were selected to ensure coverage of the two genetic loci...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28858617/a-circuit-node-that-integrates-convergent-input-from-neuromodulatory-and-social-behavior-promoting-neurons-to-control-aggression-in-drosophila
#9
Kiichi Watanabe, Hui Chiu, Barret D Pfeiffer, Allan M Wong, Eric D Hoopfer, Gerald M Rubin, David J Anderson
Diffuse neuromodulatory systems such as norepinephrine (NE) control brain-wide states such as arousal, but whether they control complex social behaviors more specifically is not clear. Octopamine (OA), the insect homolog of NE, is known to promote both arousal and aggression. We have performed a systematic, unbiased screen to identify OA receptor-expressing neurons (OARNs) that control aggression in Drosophila. Our results uncover a tiny population of male-specific aSP2 neurons that mediate a specific influence of OA on aggression, independent of any effect on arousal...
August 30, 2017: Neuron
https://www.readbyqxmd.com/read/28857153/the-quantitative-genetic-basis-of-clinal-divergence-in-phenotypic-plasticity
#10
Belinda van Heerwaarden, Carla M Sgrò
Phenotypic plasticity is thought to be an important mechanism for adapting to environmental heterogeneity. Nonetheless, the genetic basis of plasticity is still not well understood. In Drosophila melanogaster and D. simulans, body size and thermal stress resistance show clinal patterns along the east coast of Australia, and exhibit plastic responses to different developmental temperatures. The genetic basis of thermal plasticity, and whether the genetic effects underlying clinal variation in traits and their plasticity are similar, remains unknown...
August 31, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28852712/further-investigations-of-the-w-test-for-pairwise-epistasis-testing
#11
Richard Howey, Heather J Cordell
Background: In a recent paper, a novel W-test for pairwise epistasis testing was proposed that appeared, in computer simulations, to have higher power than competing alternatives. Application to genome-wide bipolar data detected significant epistasis between SNPs in genes of relevant biological function. Network analysis indicated that the implicated genes formed two separate interaction networks, each containing genes highly related to autism and neurodegenerative disorders. Methods: Here we investigate further the properties and performance of the W-test via theoretical evaluation, computer simulations and application to real data...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/28846170/stalk-size-and-altruism-investment-within-and-among-populations-of-the-social-amoeba
#12
Heather R Votaw, E A Ostrowski
Reproductive division of labor is common in many societies, including those of eusocial insects, cooperatively breeding vertebrates, and most forms of multicellularity. However, conflict over what is best for the individual versus the group can prevent an optimal division of labor from being achieved. In the social amoeba Dictyostelium discoideum, cells aggregate to become multicellular and a fraction behaves altruistically, forming a dead stalk that supports the rest. Theory suggests that intraorganismal conflict over spore-stalk cell fate can drive rapid evolutionary change in allocation traits, leading to polymorphisms within populations or rapid divergence between them...
August 28, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28841821/influence-of-epistasis-on-response-to-genomic-selection-using-complete-sequence-data
#13
Natalia S Forneris, Zulma G Vitezica, Andres Legarra, Miguel Pérez-Enciso
BACKGROUND: The effect of epistasis on response to selection is a highly debated topic. Here, we investigated the impact of epistasis on response to sequence-based selection via genomic best linear prediction (GBLUP) in a regime of strong non-symmetrical epistasis under divergent selection, using real Drosophila sequence data. We also explored the possible advantage of including epistasis in the evaluation model and/or of knowing the causal mutations. RESULTS: Response to selection was almost exclusively due to changes in allele frequency at a few loci with a large effect...
August 25, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28837667/influenza-ns1-directly-modulates-hedgehog-signaling-during-infection
#14
Margery G Smelkinson, Annabel Guichard, John R Teijaro, Meghana Malur, Maria Eugenia Loureiro, Prashant Jain, Sundar Ganesan, Elina I Zúñiga, Robert M Krug, Michael B Oldstone, Ethan Bier
The multifunctional NS1 protein of influenza A viruses suppresses host cellular defense mechanisms and subverts other cellular functions. We report here on a new role for NS1 in modifying cell-cell signaling via the Hedgehog (Hh) pathway. Genetic epistasis experiments and FRET-FLIM assays in Drosophila suggest that NS1 interacts directly with the transcriptional mediator, Ci/Gli1. We further confirmed that Hh target genes are activated cell-autonomously in transfected human lung epithelial cells expressing NS1, and in infected mouse lungs...
August 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28837567/genetic-architecture-of-atherosclerosis-dissected-by-qtl-analyses-in-three-f2-intercrosses-of-apolipoprotein-e-null-mice-on-c57bl6-j-dba-2j-and-129s6-svevtac-backgrounds
#15
Natalia Makhanova, Andrew P Morgan, Yukako Kayashima, Andrei Makhanov, Sylvia Hiller, Svetlana Zhilicheva, Longquan Xu, Fernando Pardo-Manuel de Villena, Nobuyo Maeda
Quantitative trait locus (QTL) analyses of intercross populations between widely used mouse inbred strains provide a powerful approach for uncovering genetic factors that influence susceptibility to atherosclerosis. Epistatic interactions are common in complex phenotypes and depend on genetic backgrounds. To dissect genetic architecture of atherosclerosis, we analyzed F2 progeny from a cross between apolipoprotein E-null mice on DBA/2J (DBA-apoE) and C57BL/6J (B6-apoE) genetic backgrounds and compared the results with those from two previous F2 crosses of apolipoprotein E-null mice on 129S6/SvEvTac (129-apoE) and DBA-apoE backgrounds, and B6-apoE and 129-apoE backgrounds...
2017: PloS One
https://www.readbyqxmd.com/read/28832578/a-two-locus-model-of-selection-in-autotetraploids-chromosomal-gametic-disequilibrium-and-selection-for-an-adaptive-epistatic-gene-combination
#16
C K Griswold, M W Williamson
In this paper, we present a two-locus model of selection for an autotetraploid population. We also investigate a measure of disequilibrium that occurs between homologous chromosomes in the diploid gametes of autotetraploids, namely chromosomal gametic disequilibrium. We apply the model and measure of disequilibrium to compare how an adaptive epistatic gene combination is inherited and selected for in an autotetraploid versus diploid population. Autotetraploids are expected to have higher genomic mutation and recombination rates relative to diploids, due to a greater ploidy level...
August 23, 2017: Heredity
https://www.readbyqxmd.com/read/28812657/diminishing-returns-epistasis-decreases-adaptability-along-an-evolutionary-trajectory
#17
Andrea Wünsche, Duy M Dinh, Rebecca S Satterwhite, Carolina Diaz Arenas, Daniel M Stoebel, Tim F Cooper
Populations evolving in constant environments exhibit declining adaptability. Understanding the basis of this pattern could reveal underlying processes determining the repeatability of evolutionary outcomes. In principle, declining adaptability can be due to a decrease in the effect size of beneficial mutations, a decrease in the rate at which they occur, or some combination of both. By evolving Escherichia coli populations started from different steps along a single evolutionary trajectory, we show that declining adaptability is best explained by a decrease in the size of available beneficial mutations...
March 1, 2017: Nature ecology & evolution
https://www.readbyqxmd.com/read/28799976/effect-of-gene-gene-and-gene-environment-interactions-associated-with-antituberculosis-drug-induced-hepatotoxicity
#18
Julián G Chamorro, Jorge P Castagnino, Omar Aidar, Rosa M Musella, Ana Frías, Mabel Visca, Mabel Nogueras, Lucas Costa, Alessandro Perez, Fabio Caradonna, Gabriela F de Larrañaga
OBJECTIVES: This study evaluated the association between environmental factors and genetic variations in enzymes that metabolize antituberculosis (anti-TB) drugs [arylamine N-acetyltransferase 2, cytochrome P450 2E1 (CYP2E1), glutathione S-transferase theta 1 (GSTT1), and glutathione S-transferase mu 1] with antituberculosis drug-induced hepatotoxicity (ATDH). We also investigated the potential gene-gene and gene-environment interactions as well as their association with ATDH development in a population of hospitalized TB patients from Buenos Aires...
October 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28798062/when-does-frequency-independent-selection-maintain-genetic-variation
#19
Sebastian Novak, Nicholas H Barton
Frequency-independent selection is generally considered as a force that acts to reduce the genetic variation in evolving populations, yet rigorous arguments for this idea are scarce. When selection fluctuates in time, it is unclear whether frequency-independent selection may maintain genetic polymorphism without invoking additional mechanisms. We show that constant frequency-independent selection with arbitrary epistasis on a well-mixed haploid population eliminates genetic variation if we assume linkage equilibrium between alleles...
August 10, 2017: Genetics
https://www.readbyqxmd.com/read/28776950/genetics-of-dispersal
#20
Marjo Saastamoinen, Greta Bocedi, Julien Cote, Delphine Legrand, Frédéric Guillaume, Christopher W Wheat, Emanuel A Fronhofer, Cristina Garcia, Roslyn Henry, Arild Husby, Michel Baguette, Dries Bonte, Aurélie Coulon, Hanna Kokko, Erik Matthysen, Kristjan Niitepõld, Etsuko Nonaka, Virginie M Stevens, Justin M J Travis, Kathleen Donohue, James M Bullock, Maria Del Mar Delgado
Dispersal is a process of central importance for the ecological and evolutionary dynamics of populations and communities, because of its diverse consequences for gene flow and demography. It is subject to evolutionary change, which begs the question, what is the genetic basis of this potentially complex trait? To address this question, we (i) review the empirical literature on the genetic basis of dispersal, (ii) explore how theoretical investigations of the evolution of dispersal have represented the genetics of dispersal, and (iii) discuss how the genetic basis of dispersal influences theoretical predictions of the evolution of dispersal and potential consequences...
August 3, 2017: Biological Reviews of the Cambridge Philosophical Society
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