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Behavioral genetics

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https://www.readbyqxmd.com/read/29161788/aggressive-supratentorial-ependymoma-rela-fusion-positive-with-extracranial-metastasis-a-case-report
#1
Seong-Ik Kim, Yoojin Lee, Seung Ki Kim, Hyoung Jin Kang, Sung-Hye Park
Ependymoma is the third most common pediatric primary brain tumor. Ependymomas are categorized according to their locations and genetic abnormalities, and these two parameters are important prognostic factors for patient outcome. For supratentorial (ST) ependymomas, RELA fusion-positive ependymomas show a more aggressive behavior than YAP1 fusion-positive ependymomas. Extracranial metastases of intra-axial neuroepithelial tumors are extremely rare. In this paper, we report a case of aggressive anaplastic ependymoma arising in the right frontoparietal lobe, which had genetically 1q25 gain, CDKN2A homozygous deletion, and L1CAM overexpression...
November 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/29160509/sympatry-influence-in-the-interaction-of-trypanosoma-cruzi-with-triatomine
#2
Elaine Schultz Dworak, Silvana Marques de Araújo, Mônica Lúcia Gomes, Miyoko Massago, Érika Cristina Ferreira, Max Jean de Ornelas Toledo
INTRODUCTION: Trypanosoma cruzi, the etiologic agent of Chagas disease, is widely distributed in nature, circulating between triatomine bugs and sylvatic mammals, and has large genetic diversity. Both the vector species and the genetic lineages of T. cruzi present a varied geographical distribution. This study aimed to verify the influence of sympatry in the interaction of T. cruzi with triatomines. Methods: The behavior of the strains PR2256 (T. cruzi II) and AM14 (T. cruzi IV) was studied in Triatoma sordida (TS) and Rhodnius robustus (RR)...
September 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#3
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29158163/identification-of-tissue-damage-extracellular-matrix-remodeling-and-bacterial-challenge-as-common-mechanisms-associated-with-high-risk-cutaneous-squamous-cell-carcinomas
#4
Melanie C Föll, Matthias Fahrner, Christine Gretzmeier, Käthe Thoma, Martin L Biniossek, Dimitra Kiritsi, Frank Meiss, Oliver Schilling, Alexander Nyström, Johannes S Kern
In this study we used a genetic extracellular matrix (ECM) disease to identify mechanisms associated with aggressive behavior of cutaneous squamous cell carcinoma (cSCC). cSCC is one of the most common malignancies and usually has a good prognosis. However, some cSCCs recur or metastasize and cause significant morbidity and mortality. Known factors that are associated with aggressiveness of cSCCs include tumor grading, size, localization and microinvasive behavior. To investigate molecular mechanisms that influence biologic behavior we used global proteomic and histologic analyses of formalin-fixed paraffin-embedded tissue of primary human cSCCs...
November 17, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29157304/a-novel-vector-for-transgenesis-in-the-rat-cns
#5
T Peter Lopez, Kurt Giles, Brittany N Dugger, Abby Oehler, Carlo Condello, Zuzana Krejciova, Julian A Castaneda, George A Carlson, Stanley B Prusiner
The larger brain of the rat enables a much greater repertoire of complex behaviors than mice, likely making rats preferential for investigating neurodegeneration. Because molecular tools for specific expression of transgenes in the rat brain are sparse, we chose Prnp encoding the prion protein (PrP) to develop a novel vector to drive transgene expression in the rat brain. We compared the rat Prnp sequence with mouse and Syrian hamster Prnp sequences, identifying conserved genetic elements and hypothesizing that these elements would be able to drive neuronal transgene expression...
November 21, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29157227/metabolic-adaptation-of-two-in-silico-mutants-of-mycobacterium-tuberculosis-during-infection
#6
Víctor A López-Agudelo, Andres Baena, Howard Ramirez-Malule, Silvia Ochoa, Luis F Barrera, Rigoberto Ríos-Estepa
BACKGROUND: Up to date, Mycobacterium tuberculosis (Mtb) remains as the worst intracellular killer pathogen. To establish infection, inside the granuloma, Mtb reprograms its metabolism to support both growth and survival, keeping a balance between catabolism, anabolism and energy supply. Mtb knockouts with the faculty of being essential on a wide range of nutritional conditions are deemed as target candidates for tuberculosis (TB) treatment. Constraint-based genome-scale modeling is considered as a promising tool for evaluating genetic and nutritional perturbations on Mtb metabolic reprogramming...
November 21, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29156806/association-between-snps-in-microrna-machinery-genes-and-gastric-cancer-susceptibility-invasion-and-metastasis-in-chinese-han-population
#7
Xingbo Song, Huiyu Zhong, Qian Wu, Minjin Wang, Juan Zhou, Yi Zhou, Xiaojun Lu, Binwu Ying
Objective: The present study investigates the influence of genetic variants in miRNA machinery genes (DROSHA, DICER, AGO1, and GEMIN4) on gastric cancer in Chinese Han population, further revealing the genetic mechanisms of gastric cancer occurrence and development. Methods: Genotyping of single nucleotide polymorphisms (SNPs) was performed in 628 patients with GC and 502 frequency-matched (age and gender) controls by the high resolution melting (HRM) method. Results: The SNPs rs3742330 (DICER) and rs7813 (GEMIN4) were associated with susceptibility to gastric cancer (P = 0...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156684/a-prenatal-interruption-of-disc1-function-in-the-brain-exhibits-a-lasting-impact-on-adult-behaviors-brain-metabolism-and-interneuron-development
#8
Dazhi Deng, Chongdong Jian, Ling Lei, Yijing Zhou, Colleen McSweeney, Fengping Dong, Yilun Shen, Donghua Zou, Yonggang Wang, Yuan Wu, Limin Zhang, Yingwei Mao
Mental illnesses like schizophrenia (SCZ) and major depression disorder (MDD) are devastating brain disorders. The SCZ risk gene, disrupted in schizophrenia 1 (DISC1), has been associated with neuropsychiatric conditions. However, little is known regarding the long-lasting impacts on brain metabolism and behavioral outcomes from genetic insults on fetal NPCs during early life. We have established a new mouse model that specifically interrupts DISC1 functions in NPCs in vivo by a dominant-negative DISC1 (DN-DISC1) with a precise temporal and spatial regulation...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155814/optimal-synaptic-signaling-connectome-for-locomotory-behavior-in-caenorhabditis-elegans-design-minimizing-energy-cost
#9
Franciszek Rakowski, Jan Karbowski
The detailed knowledge of C. elegans connectome for 3 decades has not contributed dramatically to our understanding of worm's behavior. One of main reasons for this situation has been the lack of data on the type of synaptic signaling between particular neurons in the worm's connectome. The aim of this study was to determine synaptic polarities for each connection in a small pre-motor circuit controlling locomotion. Even in this compact network of just 7 neurons the space of all possible patterns of connection types (excitation vs...
November 20, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/29155762/high-throughput-analysis-of-locomotor-behavior-in-the-drosophila-island-assay
#10
Ilse Eidhof, Michaela Fenckova, Dei M Elurbe, Bart van de Warrenburg, Anna Castells Nobau, Annette Schenck
Advances in next-generation sequencing technologies contribute to the identification of (candidate) disease genes for movement disorders and other neurological diseases at an increasing speed. However, little is known about the molecular mechanisms that underlie these disorders. The genetic, molecular, and behavioral toolbox of Drosophila melanogaster makes this model organism particularly useful to characterize new disease genes and mechanisms in a high-throughput manner. Nevertheless, high-throughput screens require efficient and reliable assays that, ideally, are cost-effective and allow for the automatized quantification of traits relevant to these disorders...
November 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155247/cells-have-sex-chromosomes-and-circadian-clocks-implications-for-organismal-level-functions
#11
Rae Silver
A great number of stakeholders have a keen interest in issues surrounding sex differences. These participants in the discourse often use the same evidence to draw opposite conclusions, with implications for individuals and society as a whole. One part of the maelstrom and associated emotionality derives from confounds between the concepts of "sex" vs. "gender", even among professionals. Here, the oft-repeated point is made that evidence for gender differences can't be derived from the animal research, once the generally accepted conception of gender as a process unique to humans, is acknowledged...
November 15, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/29155005/effects-of-genetic-and-environmental-risk-for-schizophrenia-on-hippocampal-activity-and-psychosis-like-behavior-in-mice
#12
Daniel Scott, Carol A Tamminga
Schizophrenia is a serious mental illness most notably characterized by psychotic symptoms. In humans, psychotic disorders are associated with specific hippocampal pathology. However, animal model systems for psychosis often lack this pathology, and have been weak in providing a representation of psychosis. We utilized a double-risk model system combining genetic risk with environmental stress. We hypothesized these factors will induce hippocampal subfield pathology consistent with human findings, as well as behavioral phenotypes relevant to psychosis...
November 15, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/29154458/epigenetic-mechanisms-of-major-depression-targeting-neuronal-plasticity
#13
REVIEW
Shusaku Uchida, Hirotaka Yamagata, Tomoe Seki, Yoshifumi Watanabe
Major depressive disorder is one of the most common mental illnesses as it affects more than 350 million people globally. Major depressive disorder is etiologically complex and disabling. Genetic factors play a role in the etiology of major depression. However, identical twin studies have shown high rates of discordance, indicating non-genetic mechanisms as well. For instance, stressful life events increase the risk of depression. Environmental stressors also induce stable changes in gene expression within the brain that may lead to maladaptive neuronal plasticity in regions implicated in disease pathogenesis...
November 20, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/29154293/the-changing-landscape-of-parkinson-epidemiologic-research
#14
Honglei Chen
Despite recent successes in understanding the genetics of Parkinson's disease (PD), the causes of late-onset sporadic PD remain elusive. Many of the epidemiologic findings on PD etiology have been challenged by alternative explanations such as reverse causation. This is mainly because PD often takes decades to develop before it can be diagnosed late in life. Convincing evidence shows that this prodromal stage of PD is characterized by various prodromal symptoms such as olfactory impairment and rapid-eye-movement sleep behavior disorder (RBD)...
November 14, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/29154255/trial-latencies-estimation-of-event-related-potentials-in-eeg-by-means-of-genetic-algorithms
#15
Paolo Da Pelo, Marina De Tommaso, Alfonso Monaco, Sebastiano Stramaglia, Roberto Bellotti, Sabina Tangaro
Objective Event-Related Potentials are usually obtained by averaging thus neglecting the trial-to-trial latency variability in cognitive EEG responses. As a consequence the shape and the peak amplitude of the averaged ERP are smeared and reduced, respectively, when the single trial latencies show a relevant variability. To date, the majority of the methodologies for single-trial latencies inference are iterative schemes providing sub-optimal solutions, the most commonly used being the Woody's algorithm...
November 20, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/29153875/the-role-of-operating-parameters-and-oxidative-damage-mechanisms-of-advanced-chemical-oxidation-processes-in-the-combat-against-antibiotic-resistant-bacteria-and-resistance-genes-present-in-urban-wastewater
#16
REVIEW
I Michael-Kordatou, P Karaolia, D Fatta-Kassinos
An upsurge in the study of antibiotic resistance in the environment has been observed in the last decade. Nowadays, it is becoming increasingly clear that urban wastewater is a key source of antibiotic resistance determinants, i.e. antibiotic-resistant bacteria and antibiotic resistance genes (ARB&ARGs). Urban wastewater reuse has arisen as an important component of water resources management in the European Union and worldwide to address prolonged water scarcity issues. Especially, biological wastewater treatment processes (i...
October 27, 2017: Water Research
https://www.readbyqxmd.com/read/29153269/vitamin-d-pathway-gene-polymorphisms-influenced-vitamin-d-level-among-pregnant-women
#17
Bule Shao, Shuying Jiang, Xiamusiye Muyiduli, Shuojia Wang, Minjia Mo, Minchao Li, Zhaopin Wang, Yunxian Yu
AIMS: To explore the relationship between vitamin D pathway genes, gene-environment interactions and vitamin D level among southeast Chinese pregnant women. METHODS: 759 participants from Zhoushan Pregnant Women Cohort (ZPWC) study, were enrolled from August 2011 to April 2014 in China. Plasma 25(OH)D levels and genetic variants in vitamin D pathway (NADSYN1/DHCR7, GC, CYP3A4, CYP2R1, CYP27A1, CYP27B1, VDR, CYP24A1, and LRP2) were measured using the blood sample collected at the first trimester...
November 7, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29153180/a-100-year-review-progress-on-the-chemistry-of-milk-and-its-components
#18
John A Lucey, Don Otter, David S Horne
Understanding the chemistry of milk and its components is critical to the production of consistent, high-quality dairy products as well as the development of new dairy ingredients. Over the past 100 yr we have gone from believing that milk has only 3 protein fractions to identifying all the major and minor types of milk proteins as well as discovering that they have genetic variants. The structure and physical properties of most of the milk proteins have been extensively studied. The structure of the casein micelle has been the subject of many studies, and the initial views on submicelles have given way to the current model of the micelle as being assembled as a result of the concerted action of several types of interactions (including hydrophobic and the formation of calcium phosphate nanoclusters)...
December 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29153165/a-100-year-review-historical-development-of-female-reproductive-physiology-in-dairy-cattle
#19
William W Thatcher
The objective of this historical review in female reproductive physiology is to encapsulate major advancements since the founding of the American Dairy Science Association in 1906. The emphasis is on landmark publications in the Journal of Dairy Science since its first volume in 1917. A historical perspective and inferences are made in forecasting evolution of female reproduction and links between physiology of reproduction and the mammary gland. Subsequent sections are focused into main physiological categories and the temporal advancements within these physiological windows...
December 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29153160/a-100-year-review-calf-nutrition-and-management
#20
A F Kertz, T M Hill, J D Quigley, A J Heinrichs, J G Linn, J K Drackley
The first calf paper, published in the May 1919 issue of the Journal of Dairy Science (JDS), described factors affecting birth body weight of different breeds of calves. Other studies were done on nonmilk ingredients, growth charts were developed, and early weaning was followed to conserve milk fed to calves. Calf papers did not report use of statistics to control or record variation or to determine whether treatment means were different. Many experiments were more observational than comparative. Typically fewer than 5 calves, and sometimes 1 or 2 calves, were used per treatment...
December 2017: Journal of Dairy Science
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