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https://www.readbyqxmd.com/read/29054034/an-exploration-of-common-dopaminergic-variants-and-behavior-problems-in-siblings-at-high-risk-for-autism-spectrum-disorder
#1
Devon N Gangi, Lauren V Usher, Daniel S Messinger
Younger siblings of children with ASD often exhibit elevated internalizing and externalizing problems. We investigated common dopaminergic variants (DRD4 and DRD2) in relation to behavior problems at 36 months. Genotypes linked to less efficient dopaminergic functioning were associated with higher internalizing problems in high-risk siblings.
October 17, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/29053857/uv-reflection-properties-of-plumage-and-skin-of-domesticated-turkeys-meleagris-gallopavo-f-dom-as-revealed-by-uv-photography
#2
T Bartels, J-H Lütgeharm, M Wähner, J Berk
Reflection and fluorescence properties of feathered and non-feathered body regions of white- and bronze-colored fattening turkeys of various ages were examined by ultraviolet (UV) photography. The examinations were carried out on 20 white-feathered fattening turkeys (B.U.T. 6; 10 males, 10 females) and 20 bronze-feathered fattening turkeys (Grelier 708; 10 males, 10 females) over a period of 21 weeks. The turkeys were photographed once a wk under long-wave UV (UVA) radiation illumination (λ = 344-407 nm) using a digital camera...
October 5, 2017: Poultry Science
https://www.readbyqxmd.com/read/29053735/characterization-of-the-first-knock-out-aldh7a1-zebrafish-model-for-pyridoxine-dependent-epilepsy-using-crispr-cas9-technology
#3
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in body fluids. Neonatal or infantile onset seizures refractory to anti-epileptic medications are clinical features. Treatment with pyridoxine, arginine and lysine-restricted diet does not normalize neurodevelopmental outcome or accumulation of neurotoxic metabolites...
2017: PloS One
https://www.readbyqxmd.com/read/29052939/qtl-mapping-and-analysis-of-heritable-variation-in-affiliative-social-behavior-and-related-traits
#4
Allison T Knoll, Kevin Jiang, Pat Levitt
Humans exhibit broad heterogeneity in affiliative social behavior. Twin and family studies demonstrate that individual differences in core dimensions of social behavior are heritable, yet there are knowledge gaps in understanding the underlying genetic and neurobiological mechanisms. Animal genetic reference panels (GRPs) provide a tractable strategy for examining the behavioral and genetic architecture of complex traits. Here, using males from 50 mouse strains from the BXD GRP, four domains of affiliative social behavior-social approach, social recognition, direct social interaction (partner sniffing), and vocal communication-were examined in two widely used behavioral tasks-the 3-chamber and direct social interaction tasks...
October 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29051562/motifs-in-the-tau-protein-that-control-binding-to-microtubules-and-aggregation-determine-pathological-effects
#5
Aurélien Lathuilière, Pamela Valdés, Stéphanie Papin, Matthias Cacquevel, Catherine Maclachlan, Graham W Knott, Andreas Muhs, Paolo Paganetti, Bernard L Schneider
Tau pathology is associated with cognitive decline in Alzheimer's disease, and missense tau mutations cause frontotemporal dementia. Hyperphosphorylation and misfolding of tau are considered critical steps leading to tauopathies. Here, we determine how motifs controlling conformational changes in the microtubule-binding domain determine tau pathology in vivo. Human tau was overexpressed in the adult mouse forebrain to compare variants carrying residues that modulate tau propensity to acquire a β-sheet conformation...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29050660/the-fortuitous-discovery-of-the-olin-eilobi-breathing-techniques-a-case-study
#6
Sarah Graham, Emily Deardorff, Kristina Johnston, J Tod Olin
Exercise-induced laryngeal obstruction (EILO) is the term for the condition previously named vocal cord dysfunction and paradoxical vocal fold motion. It is defined by glottic or supraglottic obstruction during periods of intense exercise. Not all patients respond to conventional therapy with speech-language pathology, behavioral health interventions, and treatment of contributing conditions. In this edition of Journal of Voice, the authors describe a novel series of respiratory retraining techniques, now called Olin EILOBI (EILO biphasic inspiratory) breathing techniques, specifically designed for athletes with EILO...
October 11, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/29049139/the-role-of-the-cys23ser-rs6318-polymorphism-of-the-htr2c-gene-in-suicidal-behavior-systematic-review-and-meta-analysis
#7
Thelma B González-Castro, Yazmín Hernandez-Diaz, Isela E Juárez-Rojop, Lilia López-Narváez, Carlos A Tovilla-Zárate, José M Rodriguez-Perez, Juan P Sánchez-de la Cruz
OBJECTIVE: The polymorphisms of the serotonin receptor 2C (HTR2C) gene have been proposed to influence suicidal behavior. The aim of our study was to explore the role of the HTR2C gene variant Cys23Ser (rs6318) in the pathogenesis of suicidal behavior through a systematic review and meta-analysis. METHODS: The search was performed using EBSCO and PubMed databases. To be included in the analysis, the studies had to evaluate suicidal behavior (attempted, ideation, or completed suicide)...
October 18, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/29046999/attentional-orienting-to-emotional-faces-moderates-the-association-between-callous-unemotional-traits-and-peer-nominated-aggression-in-young-adolescent-school-children
#8
Enrica Ciucci, Eva Kimonis, Paul J Frick, Stefania Righi, Andrea Baroncelli, Giovanna Tambasco, Carolina Facci
Callous-unemotional (CU) traits are associated with aggressive behavior but preliminary research suggests this relationship is modified by patterns of emotional processing. This study examined whether attentional orienting to emotional faces moderated the association between CU traits and peer-nominated aggression in 251 middle school students (53% females, mean age = 13.24 years, SD = 0.73). Attentional orienting was assessed using an emotional faces (i.e., angry, fearful, happy, sad, and neutral) variant of the dot-probe task...
October 18, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29045138/importance-of-the-c-terminus-of-aldh7a1-for-oligomerization-and-catalytic-activity
#9
David Korasick, Jesse Wyatt, Min Luo, Adrian R Laciak, Kasi Ruddraraju, Kent S Gates, Michael T Henzl, John J Tanner
Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes the terminal step of lysine catabolism, the NAD+-dependent oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Structures of ALDH7A1 reveal the C-terminus is a gate that opens and closes in response to the binding of α-aminoadipate. In the closed state, the C-terminus of one protomer stabilizes the active site of the neighboring protomer in the dimer-of-dimers tetramer. Specifically, Ala505 and Gln506 interact with the conserved aldehyde-anchor-loop in the closed state...
October 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/29044955/single-molecule-observation-of-the-photoregulated-conformational-dynamics-of-dna-origami-nanoscissors
#10
Masayuki Endo, Elena M Willner, Yuu Kamada, Yuki Suzuki, Tomoko Emura, Kumi Hidaka, Hendrik Dietz, Hiroshi Sugiyama
We demonstrate direct observation of the dynamic opening and closing behavior of photo-controllable DNA origami nanoscissors (NS) using high-speed AFM. First the conformational change between the open and closed state controlled by adjustment of salt concentration could be directly observed during AFM scanning. Then light-responsive moieties were incorporated into the NS to control the structural changes by irradiation. Using photo-switchable DNA strands, we created a photoresponsive NS variant and were able to distinguish between the open and closed conformations after respective irradiation with UV and visible (Vis) light via gel electrophoresis and AFM imaging...
October 17, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/29044188/the-histone-variant-h3-3-g34w-substitution-in-giant-cell-tumor-of-the-bone-link-chromatin-and-rna-processing
#11
Jinyeong Lim, Joo Hyun Park, Annika Baude, Yeongran Yoo, Yeon Kyu Lee, Christopher R Schmidt, Jong Bae Park, Jörg Fellenberg, Josef Zustin, Florian Haller, Irene Krücken, Hyun Guy Kang, Yoon Jung Park, Christoph Plass, Anders M Lindroth
While transcription as regulated by histones and their post-translational modifications has been well described, the function of histone variants in this process remains poorly characterized. Potentially important insight into this process pertain to the frequently occurring mutations of H3.3, leading to G34 substitutions in childhood glioblastoma and giant cell tumor of the bone (GCTB). In this study, we have established primary cell lines from GCTB patients and used them to uncover the influence of H3.3 G34W substitutions on cellular growth behavior, gene expression, and chromatin compaction...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29042551/integrating-evolutionary-and-regulatory-information-with-a-multispecies-approach-implicates-genes-and-pathways-in-obsessive-compulsive-disorder
#12
Hyun Ji Noh, Ruqi Tang, Jason Flannick, Colm O'Dushlaine, Ross Swofford, Daniel Howrigan, Diane P Genereux, Jeremy Johnson, Gerard van Grootheest, Edna Grünblatt, Erik Andersson, Diana R Djurfeldt, Paresh D Patel, Michele Koltookian, Christina M Hultman, Michele T Pato, Carlos N Pato, Steven A Rasmussen, Michael A Jenike, Gregory L Hanna, S Evelyn Stewart, James A Knowles, Stephan Ruhrmann, Hans-Jörgen Grabe, Michael Wagner, Christian Rück, Carol A Mathews, Susanne Walitza, Daniëlle C Cath, Guoping Feng, Elinor K Karlsson, Kerstin Lindblad-Toh
Obsessive-compulsive disorder is a severe psychiatric disorder linked to abnormalities in glutamate signaling and the cortico-striatal circuit. We sequenced coding and regulatory elements for 608 genes potentially involved in obsessive-compulsive disorder in human, dog, and mouse. Using a new method that prioritizes likely functional variants, we compared 592 cases to 560 controls and found four strongly associated genes, validated in a larger cohort. NRXN1 and HTR2A are enriched for coding variants altering postsynaptic protein-binding domains...
October 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29040522/behavioral-and-transcriptomic-analysis-of-trem2-null-mice-not-all-knockout-mice-are-created-equal
#13
Silvia S Kang, Aishe Kurti, Kelsey E Baker, Chia-Chen Liu, Marco Colonna, Jason D Ulrich, David M Holtzman, Guojun Bu, John D Fryer
It is clear that innate immune system status is altered in numerous neurodegenerative diseases. Human genetic studies have demonstrated that Triggering Receptor Expressed in Myeloid cells 2 (TREM2) coding variants have a strong association with Alzheimer's disease (AD) and other neurodegenerative diseases. To more thoroughly understand the impact of TREM2 in vivo, we studied the behavioral and cognitive functions of wild-type (WT) and Trem2-/- (KO) mice during basal conditions and brain function in the context of innate immune stimulation with peripherally administered lipopolysaccharide (LPS)...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29040360/elucidating-the-editome-bioinformatics-approaches-for-rna-editing-detection
#14
Maria Angela Diroma, Loredana Ciaccia, Graziano Pesole, Ernesto Picardi
RNA editing is a widespread co/posttranscriptional mechanism affecting primary RNAs by specific nucleotide modifications, which plays relevant roles in molecular processes including regulation of gene expression and/or the processing of noncoding RNAs. In recent years, the detection of editing sites has been improved through the availability of high-throughput RNA sequencing (RNA-Seq) technologies. Accurate bioinformatics pipelines are essential for the analysis of next-generation sequencing (NGS) data to ensure the correct identification of edited sites...
October 11, 2017: Briefings in Bioinformatics
https://www.readbyqxmd.com/read/29038237/the-gain-of-function-integrin-%C3%AE-3-pro33-variant-alters-the-serotonin-system-in-the-mouse-brain
#15
Michael R Dohn, Christopher G Kooker, Lisa Bastarache, Tammy Jessen, Capria Rinaldi, Seth Varney, Matthew D Mazalouskas, Hope Pan, Kendra H Oliver, Digna R Velez Edwards, James S Sutcliffe, Joshua C Denny, Ana M D Carneiro
Engagement of integrins by the extracellular matrix initiates signaling cascades that drive a variety of cellular functions, including neuronal migration and axonal pathfinding in the brain. Multiple lines of evidence link the ITGB3 gene encoding the integrin β3 subunit with the serotonin (5-HT) system, likely via its modulation of the 5-HT transporter (SERT). The ITGB3 coding polymorphism Leu33Pro (rs5918, Pl(A2)) produces hyperactive αvβ3 receptors that influence whole blood 5-HT levels and may influence risk for autism spectrum disorder (ASD)...
October 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29038017/fetal-growth-interacts-with-multilocus-genetic-score-reflecting-dopamine-signaling-capacity-to-predict-spontaneous-sugar-intake-in-children
#16
Patrícia P Silveira, Irina Pokhvisneva, Hélène Gaudreau, Leslie Atkinson, Alison S Fleming, Marla B Sokolowski, Meir Steiner, James L Kennedy, Laurette Dubé, Robert D Levitan, Michael J Meaney
BACKGROUND: We have shown that intrauterine growth restriction (IUGR) leads to increased preference for palatable foods at different ages in both humans and rodents. In IUGR rodents, altered striatal dopamine signaling associates with a preference for palatable foods. OBJECTIVES: Our aim was to investigate if a multilocus genetic score reflecting dopamine-signaling capacity is differently associated with spontaneous palatable food intake in children according to the fetal growth status...
October 13, 2017: Appetite
https://www.readbyqxmd.com/read/29036702/a-hyperdynamic-h3-3-nucleosome-marks-promoter-regions-in-pluripotent-embryonic-stem-cells
#17
Sharon Schlesinger, Binyamin Kaffe, Shai Melcer, Jose D Aguilera, Divya M Sivaraman, Tommy Kaplan, Eran Meshorer
Histone variants and their chaperones are key regulators of eukaryotic transcription, and are critical for normal development. The histone variant H3.3 has been shown to play important roles in pluripotency and differentiation, and although its genome-wide patterns have been investigated, little is known about the role of its dynamic turnover in transcriptional regulation. To elucidate the role of H3.3 dynamics in embryonic stem cell (ESC) biology, we generated mouse ESC lines carrying a single copy of a doxycycline (Dox)-inducible HA-tagged version of H3...
September 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29035064/two-subtypes-of-psychopathic-criminals-differ-in-negative-affect-and-history-of-childhood-abuse
#18
Monika Dargis, Michael Koenigs
OBJECTIVE: Specification of the etiological mechanisms underlying psychopathy is a key step in developing more effective methods for preventing and remediating the callous and impulsive behavior that characterizes the disorder. Theoretical conceptualizations of psychopathic subtypes propose that a primary variant largely stems from impoverished affect, whereas a secondary variant is hypothesized to develop subsequent to adverse environmental experiences (e.g., childhood maltreatment)...
October 16, 2017: Psychological Trauma: Theory, Research, Practice and Policy
https://www.readbyqxmd.com/read/29031761/reduced-p300-amplitude-during-a-visuospatial-attention-task-in-idiopathic-rapid-eye-movement-sleep-behavior-disorder
#19
Jung-Ick Byun, Byeong Uk Lee, Minah Kim, Jun-Sang Sunwoo, Jung-Ah Lim, Jangsup Moon, Soon-Tae Lee, Keun-Hwa Jung, Kon Chu, Man-Ho Kim, Min Hee Jeong, Kwang Su Cha, Jeong Woo Choi, Kyung Hwan Kim, Sang Kun Lee, Ki-Young Jung
OBJECTIVES: Idiopathic rapid eye movement sleep behavior disorder (IRBD) patients are prone to cognitive deficits, which include attention, executive, and visuospatial dysfunctions. Even patients with normal cognition may exhibit subclinical electrophysiological dysfunction. This study aimed to evaluate visuospatial attention processing in IRBD patients with normal cognition and to compare their findings with those of age- and sex-matched healthy controls. METHODS: We recorded event-related potentials (ERPs) and performance measures during a variant of the Posner task in 14 IRBD patients and 14 control subjects...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29029877/substitutions-of-s101-decrease-proton-and-hydride-transfers-in-the-oxidation-of-betaine-aldehyde-by-choline-oxidase
#20
Giovanni Gadda, Hongling Yuan
Choline oxidase oxidizes choline to glycine betaine, with two flavin-mediated reactions to convert the alcohol substrate to the carbon acid product. Proton abstraction from choline or hydrated betaine aldehyde in the wild-type enzyme occurs in the mixing time of the stopped-flow spectrophotometer, thereby precluding a mechanistic investigation. Mutagenesis of S101 rendered the proton transfer reaction amenable to study. Here, we have investigated the aldehyde oxidation reaction catalyzed by the mutant enzymes using steady-state and rapid kinetics with betaine aldehyde...
October 10, 2017: Archives of Biochemistry and Biophysics
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