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Sleep genomics

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https://www.readbyqxmd.com/read/28720848/the-natural-disc1-deletion-present-in-several-inbred-mouse-strains-does-not-affect-sleep
#1
Lars Dittrich, Alessandro Petese, Walker S Jackson
The gene Disrupted in Schizophrenia-1 (DISC1) is linked to a range of psychiatric disorders. Two recent transgenic studies suggest DISC1 is also involved in homeostatic sleep regulation. Several strains of inbred mice commonly used for genome manipulation experiments, including several Swiss and likely all 129 substrains, carry a natural deletion mutation of Disc1. This constitutes a potential confound for studying sleep in genetically modified mice. Since disturbed sleep can also influence psychiatric and neurodegenerative disease models, this putative confound might affect a wide range of studies in several fields...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28682873/overlap-syndrome-of-copd-and-osa-in-koreans
#2
Kyung-Mee Choi, Robert J Thomas, Jinkwan Kim, Seung Ku Lee, Dae Wui Yoon, Chol Shin
Overlap syndrome of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) leads to increased morbidity and mortality. There have been no reports available on the overlap syndrome for Koreans. Our primary aim was to identify prevalence and predictors of the overlap syndrome in Koreans.This is a cross-sectional study with a community-based sample of 1298 participants (mean age, 59.7 ± 6.7) from the cohort of Korean Genomic and Epidemiologic Study during 2013 to 2014. OSA and COPD were assessed by apnea-hypopnea index (AHI) and the ratio of forced expiratory volume in 1 s to forced vital capacity (FEV1/FVC < 70%), respectively, based on polysomnography and spirometry measurements...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28676676/identifying-pathways-modulating-sleep-duration-from-genomics-to-transcriptomics
#3
Karla V Allebrandt, Maris Teder-Laving, Paola Cusumano, Goar Frishman, Rosa Levandovski, Andreas Ruepp, Maria P L Hidalgo, Rodolfo Costa, Andres Metspalu, Till Roenneberg, Cristiano De Pittà
Recognizing that insights into the modulation of sleep duration can emerge by exploring the functional relationships among genes, we used this strategy to explore the genome-wide association results for this trait. We detected two major signalling pathways (ion channels and the ERBB signalling family of tyrosine kinases) that could be replicated across independent GWA studies meta-analyses. To investigate the significance of these pathways for sleep modulation, we performed transcriptome analyses of short sleeping flies' heads (knockdown for the ABCC9 gene homolog; dSur)...
July 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28659170/the-transcriptome-of-a-sleeping-invader-de-novo-assembly-and-annotation-of-the-transcriptome-of-aestivating-cornu-aspersum
#4
Aristeidis Parmakelis, Panayiota Kotsakiozi, Christos K Kontos, Panagiotis G Adamopoulos, Andreas Scorilas
BACKGROUND: Cornu aspersum is a quite intriguing species from the point of view of ecology and evolution and its potential use in medical and environmental applications. It is a species of economic importance since it is farmed and used for culinary purposes. However, the genomic tools that would allow a thorough insight into the ecology, evolution, nutritional and medical properties of this highly adaptable organism, are missing. In this work, using next-generation sequencing (NGS) techniques we assessed a significant portion of the transcriptome of this non-model organism...
June 28, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28645892/meis1-effects-on-motor-phenotypes-and-the-sensorimotor-system-in-mice
#5
Aaro V Salminen, Lillian Garrett, Barbara Schormair, Jan Rozman, Florian Giesert, Kristina M Niedermeier, Lore Becker, Birgit Rathkolb, Ildikó Rácz, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Andreas Zimmer, Valérie Gailus-Durner, Miguel Torres, Helmut Fuchs, Martin Hrabě de Angelis, Wolfgang Wurst, Sabine M Hölter, Juliane Winkelmann
MEIS1 is a developmental transcription factor linked to restless legs syndrome (RLS) in genome-wide association studies. RLS is a movement disorder leading to severe sleep reduction and with significant impact on the quality-of-life of patients. In genome-wide association studies, MEIS1 has consistently been the gene with the highest effect size and functional studies suggest a disease-relevant downregulation. Therefore, haploinsufficiency of Meis1 could be the most potential system for modeling RLS in animals...
June 23, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28645331/circadian-clock-gene-polymorphisms-in-relation-to-sleep-patterns-and-obesity-in-african-americans-findings-from-the-jackson-heart-study
#6
Pia Riestra, Samson Y Gebreab, Ruihua Xu, Rumana J Khan, Amadou Gaye, Adolfo Correa, Nancy Min, Mario Sims, Sharon K Davis
BACKGROUND: Circadian rhythms regulate key biological processes and the dysregulation of the intrinsic clock mechanism affects sleep patterns and obesity onset. The CLOCK (circadian locomotor output cycles protein kaput) gene encodes a core transcription factor of the molecular circadian clock influencing diverse metabolic pathways, including glucose and lipid homeostasis. The primary objective of this study was to evaluate the associations between CLOCK single nucleotide polymorphisms (SNPs) and body mass index (BMI)...
June 23, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28639573/a-transcriptomic-analysis-of-physiological-significance-of-hypoxia-inducible-factor-1%C3%AE-in-myogenesis-and-carbohydrate-metabolism-of-genioglossus-in-mice
#7
Tong Hao, Yue-Hua Liu, Yuan-Yuan Li, Yun Lu, Hong-Yi Xu
BACKGROUND: Chronic intermittent hypoxia is the most remarkable feature of obstructive sleep apnea/hypopnea syndrome and it can induce the change of hypoxia-inducible factor-1α (HIF-1α) expression and contractile properties in the genioglossus. To clarify the role of HIF-1α in contractile properties of the genioglossus, this study generated and compared high-throughput RNA-sequencing data from genioglossus between HIF-1α conditional knockout (KO) mice and littermate wild-type (WT) mice...
July 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28620071/multiancestry-study-of-gene-lifestyle-interactions-for-cardiovascular-traits-in-610-475-individuals-from-124-cohorts-design-and-rationale
#8
D C Rao, Yun J Sung, Thomas W Winkler, Karen Schwander, Ingrid Borecki, L Adrienne Cupples, W James Gauderman, Kenneth Rice, Patricia B Munroe, Bruce M Psaty
BACKGROUND: Several consortia have pursued genome-wide association studies for identifying novel genetic loci for blood pressure, lipids, hypertension, etc. They demonstrated the power of collaborative research through meta-analysis of study-specific results. METHODS AND RESULTS: The Gene-Lifestyle Interactions Working Group was formed to facilitate the first large, concerted, multiancestry study to systematically evaluate gene-lifestyle interactions. In stage 1, genome-wide interaction analysis is performed in 53 cohorts with a total of 149 684 individuals from multiple ancestries...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28584132/transposon-mutagenesis-identifies-chromatin-modifiers-cooperating-with-ras-in-thyroid-tumorigenesis-and-detects-atxn7-as-a-cancer-gene
#9
Cristina Montero-Conde, Luis J Leandro-Garcia, Xu Chen, Gisele Oler, Sergio Ruiz-Llorente, Mabel Ryder, Iñigo Landa, Francisco Sanchez-Vega, Konnor La, Ronald A Ghossein, Dean F Bajorin, Jeffrey A Knauf, Jesse D Riordan, Adam J Dupuy, James A Fagin
Oncogenic RAS mutations are present in 15-30% of thyroid carcinomas. Endogenous expression of mutant Ras is insufficient to initiate thyroid tumorigenesis in murine models, indicating that additional genetic alterations are required. We used Sleeping Beauty (SB) transposon mutagenesis to identify events that cooperate with Hras(G12V) in thyroid tumor development. Random genomic integration of SB transposons primarily generated loss-of-function events that significantly increased thyroid tumor penetrance in Tpo-Cre/homozygous FR-Hras(G12V) mice...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28575287/an-essential-domain-of-an-early-diverged-rna-polymerase-ii-functions-to-accurately-decode-a-primitive-chromatin-landscape
#10
Anish Das, Mahrukh Banday, Michael A Fisher, Yun-Juan Chang, Jeffrey Rosenfeld, Vivian Bellofatto
A unique feature of RNA polymerase II (RNA pol II) is its long C-terminal extension, called the carboxy-terminal domain (CTD). The well-studied eukaryotes possess a tandemly repeated 7-amino-acid sequence, called the canonical CTD, which orchestrates various steps in mRNA synthesis. Many eukaryotes possess a CTD devoid of repeats, appropriately called a non-canonical CTD, which performs completely unknown functions. Trypanosoma brucei, the etiologic agent of African Sleeping Sickness, deploys an RNA pol II that contains a non-canonical CTD to accomplish an unusual transcriptional program; all protein-coding genes are transcribed as part of a polygenic precursor mRNA (pre-mRNA) that is initiated within a several-kilobase-long region, called the transcription start site (TSS), which is upstream of the first protein-coding gene in the polygenic array...
May 26, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28574926/hyposmia-symptoms-of-rapid-eye-movement-sleep-behavior-disorder-and-parkinsonian-motor-signs-suggest-prodromal-neurodegeneration-in-22q11-deletion-syndrome
#11
Ellen Buckley, Azeem Siddique, Alisdair McNeill
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans. There is an increased risk of Parkinson's disease (PD) in individuals with 22q11DS. The characteristic motor features of PD begin when more than 50% of dopaminergic neurons in the substantia nigra have degenerated. Before this, there is a prodromal period, of up to 20 years, in which nonmotor features such as hyposmia, autonomic dysfunction, rapid eye movement sleep behavior disorder, and subtle motor dysfunction can occur...
August 2, 2017: Neuroreport
https://www.readbyqxmd.com/read/28550245/amyloid-burden-in-obstructive-sleep%C3%A2-apnea
#12
Chang-Ho Yun, Ho-Young Lee, Seung Ku Lee, Hyun Kim, Hyung Suk Seo, Seong Ae Bang, Sang Eun Kim, Douglas N Greve, Rhoda Au, Chol Shin, Robert J Thomas
To test the hypothesis that excessive amyloid deposition is a biological link between obstructive sleep apnea (OSA) and Alzheimer's disease, we determined whether OSA increases cerebral amyloid burden, relative to controls, using Pittsburgh Compound B (PiB) PET imaging. The subjects were adult participants (age 50-65 years) from the Korean Genome and Epidemiology Study. Polysomnography, brain MRI including 3D images, and a detailed neuro-cognitive function test battery were done in 2011-2012. Nineteen OSA subjects (Apnea-Hypopnea Index [AHI] ≥15/h, 21...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550012/the-genetic-architecture-of-ovariole-number-in-drosophila-melanogaster-genes-with-major-quantitative-and-pleiotropic-effects
#13
Amanda S Lobell, Rachel R Kaspari, Yazmin L Serrano Negron, Susan T Harbison
Ovariole number has a direct role in the number of eggs produced by an insect, suggesting that it is a key morphological fitness trait. Many studies have documented the variability of ovariole number and its relationship to other fitness and life-history traits in natural populations of Drosophila However, the genes contributing to this variability are largely unknown. Here, we conducted a genome-wide association study of ovariole number in a natural population of flies. Using mutations and RNAi-mediated knockdown, we confirmed the effects of 24 candidate genes on ovariole number, including a novel gene, anneboleyn (formerly CG32000), that impacts both ovariole morphology and numbers of offspring produced...
July 5, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28520763/genome-wide-gene-expression-array-identifies-novel-genes-related-to-disease-severity-and-excessive-daytime-sleepiness-in-patients-with-obstructive-sleep-apnea
#14
Yung-Che Chen, Kuang-Den Chen, Mao-Chang Su, Chien-Hung Chin, Chung-Jen Chen, Chia-Wei Liou, Ting-Wen Chen, Ya-Chun Chang, Kuo-Tung Huang, Chin-Chou Wang, Ting-Ya Wang, Jen-Chieh Chang, Yong-Yong Lin, Yi-Xin Zheng, Meng-Chih Lin, Chang-Chun Hsiao
We aimed to identify novel molecular associations between chronic intermittent hypoxia with re-oxygenation and adverse consequences in obstructive sleep apnea (OSA). We analyzed gene expression profiles of peripheral blood mononuclear cells from 48 patients with sleep-disordered breathing stratified into four groups: primary snoring (PS), moderate to severe OSA (MSO), very severe OSA (VSO), and very severe OSA patients on long-term continuous positive airway pressure treatment (VSOC). Comparisons of the microarray gene expression data identified eight genes up-regulated with OSA and down-regulated with CPAP treatment, and five genes down-regulated with OSA and up-regulated with CPAP treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28485729/altered-expression-of-histamine-signaling-genes-in-autism-spectrum-disorder
#15
C Wright, J H Shin, A Rajpurohit, A Deep-Soboslay, L Collado-Torres, N J Brandon, T M Hyde, J E Kleinman, A E Jaffe, A J Cross, D R Weinberger
The histaminergic system (HS) has a critical role in cognition, sleep and other behaviors. Although not well studied in autism spectrum disorder (ASD), the HS is implicated in many neurological disorders, some of which share comorbidity with ASD, including Tourette syndrome (TS). Preliminary studies suggest that antagonism of histamine receptors 1-3 reduces symptoms and specific behaviors in ASD patients and relevant animal models. In addition, the HS mediates neuroinflammation, which may be heightened in ASD...
May 9, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28450726/effect-of-drd4-receptor-616-c-g-polymorphism-on-brain-structure-and-functional-connectivity-density-in-pediatric-primary-nocturnal-enuresis-patients
#16
Bing Yu, Na Chang, Yao Lu, Hongwei Ma, Na Liu, Qiyong Guo
The dopamine D4 receptor (DRD4) promoter (-616; rs747302) has been associated with primary nocturnal enuresis (PNE); however, its relationship with neuroimaging has not been investigated. Therefore, we assessed the effects of the DRD4 -616 C/G single nucleotide polymorphism on the gray matter volume (GMV) and functional connectivity density (FCD) during resting-state functional magnetic resonance imaging in children with PNE using voxel-based morphometry and FCD methods. Genomic and imaging data were obtained from 97 children with PNE and 105 healthy controls...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28450367/atrial-fibrillation-epidemiology-pathophysiology-and-clinical-outcomes
#17
REVIEW
Laila Staerk, Jason A Sherer, Darae Ko, Emelia J Benjamin, Robert H Helm
The past 3 decades have been characterized by an exponential growth in knowledge and advances in the clinical treatment of atrial fibrillation (AF). It is now known that AF genesis requires a vulnerable atrial substrate and that the formation and composition of this substrate may vary depending on comorbid conditions, genetics, sex, and other factors. Population-based studies have identified numerous factors that modify the atrial substrate and increase AF susceptibility. To date, genetic studies have reported 17 independent signals for AF at 14 genomic regions...
April 28, 2017: Circulation Research
https://www.readbyqxmd.com/read/28445233/preclinical-models-for-translational-sarcoma-research
#18
Rainer Hamacher, Sebastian Bauer
PURPOSE OF REVIEW: Sarcoma is a basket term for mesenchymal tumors for which more than 75 genetically and histologically distinct subtypes are recognized. Therapeutic progress has largely been achieved with classical chemotherapeutic drugs that were tested in empirical clinical trials. However, outcome in metastatic patients remains poor and with few exceptions numerous trials have failed or only provided limited improvement in recent years. RECENT FINDINGS: Given the genomic heterogeneity, preclinical model systems will be indispensable to identify new molecular targets and to prioritize drugs and drug combinations...
July 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/28444394/tissue-specific-dissociation-of-diurnal-transcriptome-rhythms-during-sleep-restriction-in-mice
#19
Jana Husse, Jana-Thabea Kiehn, Johanna L Barclay, Nadine Naujokat, Judit Meyer-Kovac, Hendrik Lehnert, Henrik Oster
Study objectives: Shortened or mistimed sleep affects metabolic homeostasis, which may in part be mediated by dysregulation of endogenous circadian clocks. In this study, we assessed the contribution of sleep disruption to metabolic dysregulation by analysing diurnal transcriptome regulation in metabolic tissues of mice subjected to a sleep restriction (SR) paradigm. Methods: Male mice were subjected to 2 × 5 days of SR with enforced waking during the first 6 hours of the light phase...
June 1, 2017: Sleep
https://www.readbyqxmd.com/read/28424564/new-developments-in-the-management-of-narcolepsy
#20
REVIEW
Vivien C Abad, Christian Guilleminault
Narcolepsy is a life-long, underrecognized sleep disorder that affects 0.02%-0.18% of the US and Western European populations. Genetic predisposition is suspected because of narcolepsy's strong association with HLA DQB1*06-02, and genome-wide association studies have identified polymorphisms in T-cell receptor loci. Narcolepsy pathophysiology is linked to loss of signaling by hypocretin-producing neurons; an autoimmune etiology possibly triggered by some environmental agent may precipitate hypocretin neuronal loss...
2017: Nature and Science of Sleep
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