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circadian phenotype

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https://www.readbyqxmd.com/read/28816086/inducible-knockout-of-mouse-zfhx3-emphasizes-its-key-role-in-setting-the-pace-and-amplitude-of-the-adult-circadian-clock
#1
Ashleigh G Wilcox, Lucie Vizor, Michael J Parsons, Gareth Banks, Patrick M Nolan
The transcription factor zinc finger homeobox 3 (ZFHX3) plays a key role in coupling intracellular transcriptional-translational oscillations with intercellular synchrony in mouse suprachiasmatic nucleus (SCN). However, like many key players in central nervous system function, ZFHX3 serves an important role in neurulation and neuronal terminal differentiation while retaining discrete additional functions in the adult SCN. Recently, using a dominant missense mutation in mouse Zfhx3, we established that this gene can modify circadian period and sleep in adult animals...
August 1, 2017: Journal of Biological Rhythms
https://www.readbyqxmd.com/read/28801530/rhythmic-behavior-is-controlled-by-the-srm160-splicing-factor-in-drosophila-melanogaster
#2
Esteban J Beckwith, Carlos E Hernando, Sofía Polcowñuk, Agustina P Bertolin, Estefania Mancini, M Fernanda Ceriani, Marcelo J Yanovsky
Circadian clocks organize the metabolism, physiology, and behavior of organisms throughout the day-night cycle by controlling daily rhythms in gene expression at the transcriptional and post-transcriptional levels. While many transcription factors underlying circadian oscillations are known, the splicing factors that modulate these rhythms remain largely unexplored. A genome-wide assessment of the alterations of gene expression in a null mutant of the alternative splicing regulator SR-related matrix protein of 160 kD (SRm160) revealed the extent to which alternative splicing impacts on behavior-related genes...
August 11, 2017: Genetics
https://www.readbyqxmd.com/read/28794907/rai1-overexpression-promotes-altered-circadian-gene-expression-and-dyssomnia-in-potocki-lupski-syndrome
#3
Sureni V Mullegama, Joseph T Alaimo, Michael D Fountain, Brooke Burns, Amanda Hebert Balog, Li Chen, Sarah H Elsea
Retinoic acid induced 1 ( RAI1 ) encodes a dosage-sensitive gene that when haploinsufficient results in Smith-Magenis syndrome (SMS) and when overexpressed results in Potocki-Lupski syndrome (PTLS). Phenotypic and molecular evidence illustrates that haploinsufficiency of RAI1 disrupts circadian rhythm through the dysregulation of the master circadian regulator, circadian locomotor output cycles kaput ( CLOCK) , and other core circadian components, contributing to prominent sleep disturbances in SMS. However, the phenotypic and molecular characterization of sleep features in PTLS has not been elucidated...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28792639/circadian-rhythms-vary-over-the-growing-season-and-correlate-with-fitness-components
#4
Matthew J Rubin, Marcus T Brock, Amanda M Davis, Zachary M German, Mary Knapp, Stephen M Welch, Stacey L Harmer, Julin N Maloof, Seth J Davis, Cynthia Weinig
Circadian clocks have evolved independently in all three domains of life, suggesting that internal mechanisms of time-keeping are adaptive in contemporary populations. However, the performance consequences of either discrete or quantitative clock variation have rarely been tested in field settings. Clock sensitivity of diverse segregating lines to the environment remains uncharacterized as do the statistical genetic parameters that determine evolutionary potential. In field studies with Arabidopsis thaliana, we found that major perturbations to circadian cycle length (referred to as clock period) via mutation reduce both survival and fecundity...
August 9, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28790150/phosphorylation-of-histone-h2a-at-serine-95-a-plant-specific-mark-involved-in-flowering-time-regulation-and-h2a-z-deposition
#5
Yanhua Su, Shiliang Wang, Fei Zhang, Han Zheng, Yana Liu, Tongtong Huang, Yong Ding
Phosphorylation of histone H3 affects transcription, chromatin condensation, and chromosome segregation. However, the role of phosphorylation of histone H2A remains unclear. Here, we found that Arabidopsis thaliana MUT9P-LIKE-KINASE (MLK4) phosphorylates histone H2A on serine 95, a plant-specific modification in the histone core domain. Mutations in MLK4 caused late flowering under long-day conditions but no notable phenotype under short days. MLK4 interacts with CIRCADIAN CLOCK ASSOCIATED1 (CCA1), which allows MLK4 to bind to the GIGANTEA (GI) promoter...
August 8, 2017: Plant Cell
https://www.readbyqxmd.com/read/28777177/chronic-insomnia-disorder
#6
Alon Y Avidan, David N Neubauer
PURPOSE OF REVIEW: Neurologists, along with all health care providers, commonly encounter patients with insomnia, which is a condition that impacts patients' underlying neurologic conditions in a bidirectional manner. While chronic insomnia is one of the most common sleep disturbances, only a small proportion of individuals with this condition discuss their sleep problems with their providers. When insomnia is described, it is more often in relationship to another medical problem, as opposed to an independent condition...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28777176/circadian-rhythm-sleep-wake-disorders
#7
Milena Pavlova
PURPOSE OF REVIEW: The endogenous circadian rhythms are one of the cardinal processes that control sleep. They are self-sustaining biological rhythms with a periodicity of approximately 24 hours that may be entrained by external zeitgebers (German for time givers), such as light, exercise, and meal times. This article discusses the physiology of the circadian rhythms, their relationship to neurologic disease, and the presentation and treatment of circadian rhythm sleep-wake disorders...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28763478/individual-differences-in-circadian-locomotor-parameters-correlate-with-anxiety-and-depression-like-behavior
#8
Jeffrey Anyan, Michael Verwey, Shimon Amir
Disrupted circadian rhythms are a core feature of mood and anxiety disorders. Circadian rhythms are coordinated by a light-entrainable master clock located in the suprachiasmatic nucleus. Animal models of mood and anxiety disorders often exhibit blunted rhythms in locomotor activity and clock gene expression. Interestingly, the changes in circadian rhythms correlate with mood-related behaviours. Although animal models of depression and anxiety exhibit aberrant circadian rhythms in physiology and behavior, it is possible that the methodology being used to induce the behavioral phenotype (e...
2017: PloS One
https://www.readbyqxmd.com/read/28761043/diurnal-preference-mood-and-the-response-to-morning-light-in-relation-to-polymorphisms-in-the-human-clock-gene-per3
#9
M Turco, A Biscontin, M Corrias, L Caccin, M Bano, F Chiaromanni, M Salamanca, D Mattei, C Salvoro, G Mazzotta, C De Pittà, B Middleton, D J Skene, S Montagnese, R Costa
PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs57875989 length polymorphism: PER3 (4), PER3 (5); rs228697 SNP: PER3 (C), PER3 (G)) in relation to sleep-wake timing; ii) the effect of morning light on behavioural/circadian variables in PER3 (4) /PER3 (4) and PER3 (5) /PER3 (5) homozygotes. 786 Caucasian subjects living in Northern Italy donated buccal DNA and completed diurnal preference, sleep quality/timing and sleepiness/mood questionnaires...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28746872/aberrant-proteostasis-of-bmal1%C3%A2-underlies-circadian-abnormalities-in-a-paradigmatic-mtor-opathy
#10
Jonathan O Lipton, Lara M Boyle, Elizabeth D Yuan, Kevin J Hochstrasser, Fortunate F Chifamba, Ashwin Nathan, Peter T Tsai, Fred Davis, Mustafa Sahin
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by mutations in either the TSC1 or TSC2 genes, whose products form a critical inhibitor of the mechanistic target of rapamycin (mTOR). Loss of TSC1/2 gene function renders an mTOR-overactivated state. Clinically, TSC manifests with epilepsy, intellectual disability, autism, and sleep dysfunction. Here, we report that mouse models of TSC have abnormal circadian rhythms. We show that mTOR regulates the proteostasis of the core clock protein BMAL1, affecting its translation, degradation, and subcellular localization...
July 25, 2017: Cell Reports
https://www.readbyqxmd.com/read/28743830/role-of-melatonin-combined-with-exercise-as-a-switch-like-regulator-for-circadian-behavior-in-advanced-osteoarthritic-knee
#11
Yunkyung Hong, Hyunsoo Kim, Seunghoon Lee, Yunho Jin, Jeonghyun Choi, Sang-Rae Lee, Kyu-Tae Chang, Yonggeun Hong
Here, we show the role of melatonin combined with or without exercise as a determinant of multicellular behavior in osteoarthritis. We address the relationship between the molecular components governing local circadian clock and changes in the osteoarthritic musculoskeletal axis. Melatonin was injected subcutaneously in animals with advanced knee osteoarthritis (OA) for 4 weeks. Concurrently, moderate treadmill exercise was applied for 30 min/day. Morphometric, histological, and gene/protein-level analyses were performed in the cartilage, synovium, bone, and gastrocnemius muscle...
July 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28729421/the-small-g-protein-ras2-is-involved-in-the-metabolic-compensation-of-the-circadian-clock-in-the-circadian-model-neurospora-crassa
#12
Norbert Gyöngyösi, Anita Szöke, Krisztina Ella, Krisztina Káldi
Accumulating evidence from both experimental and clinical investigations indicate a tight interaction between metabolism and circadian timekeeping; however, knowledge of the underlying mechanism is still incomplete. Metabolic compensation allows circadian oscillators to run with a constant speed at different substrate levels and therefore is a substantial criterion of a robust rhythm in a changing environment. Because previous data have suggested a central role of RAS2-mediated signaling in the adaptation of yeast to different nutritional environments, we examined the involvement of RAS2 in the metabolic regulation of the clock in the circadian model organism Neurospora crassa...
July 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28726633/bmal1-function-in-skeletal-muscle-regulates-sleep
#13
J Christopher Ehlen, Allison J Brager, Julie Baggs, Lennisha Pinckney, Cloe L Gray, Jason P DeBruyne, Karyn A Esser, Joseph S Takahashi, Ketema N Paul
Sleep loss can severely impair the ability to perform, yet the ability to recover from sleep loss is not well understood. Sleep regulatory processes are assumed to lie exclusively within the brain mainly due to the strong behavioral manifestations of sleep. Whole-body knockout of the circadian clock gene Bmal1 in mice affects several aspects of sleep, however, the cells/tissues responsible are unknown. We found that restoring Bmal1 expression in the brains of Bmal1-knockout mice did not rescue Bmal1-dependent sleep phenotypes...
July 20, 2017: ELife
https://www.readbyqxmd.com/read/28720596/elongator-regulates-hypocotyl-growth-in-darkness-and-during-photomorphogenesis
#14
Magdalena Woloszynska, Olimpia Gagliardi, Filip Vandenbussche, Steven De Groeve, Luis Alonso Baez, Pia Neyt, Sabine Le Gall, Jorge Fung, Paloma Mas, Dominique Van Der Straeten, Mieke Van Lijsebettens
Elongator promotes RNA polymerase II-mediated transcript elongation through epigenetic activities such as histone acetylation. Elongator regulates growth, development, immune response, sensitivity to drought and abscisic acid. We demonstrate that elo mutants exhibit defective hypocotyl elongation but have a normal apical hook in darkness and are hyposensitive to light during photomorphogenesis. These elo phenotypes are supported by transcriptome changes, i.e. downregulation of circadian clock components, positive regulators of skoto- or photomorphogenesis, hormonal pathways and cell wall biogenesis-related factors...
July 18, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28716942/maternal-photoperiod-programs-hypothalamic-thyroid-status-via-the-fetal-pituitary-gland
#15
Cristina Sáenz de Miera, Béatrice Bothorel, Catherine Jaeger, Valérie Simonneaux, David Hazlerigg
In wild mammals, offspring development must anticipate forthcoming metabolic demands and opportunities. Within species, different developmental strategies may be used, dependent on when in the year conception takes place. This phenotypic flexibility is initiated before birth and is linked to the pattern of day length (photoperiod) exposure experienced by the mother during pregnancy. This programming depends on transplacental communication via the pineal hormone melatonin. Here, we show that, in the Siberian hamster (Phodopus sungorus), the programming effect of melatonin is mediated by the pars tuberalis (PT) of the fetal pituitary gland, before the fetal circadian system and autonomous melatonin production is established...
August 1, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28689605/circadian-disruptions-in-the-myshkin-mouse-model-of-mania-are-independent-of-deficits-in-suprachiasmatic-molecular-clock-function
#16
Joseph W S Timothy, Natasza Klas, Harshmeena R Sanghani, Taghreed Al-Mansouri, Alun T L Hughes, Greer S Kirshenbaum, Vincent Brienza, Mino D C Belle, Martin R Ralph, Steven J Clapcote, Hugh D Piggins
BACKGROUND: Alterations in environmental light and intrinsic circadian function have strong associations with mood disorders. The neural origins underpinning these changes remain unclear, although genetic deficits in the molecular clock regularly render mice with altered mood-associated phenotypes. METHODS: A detailed circadian and light-associated behavioral characterization of the Na(+)/K(+)-ATPase α3 Myshkin (Myk/+) mouse model of mania was performed. Na(+)/K(+)-ATPase α3 does not reside within the core circadian molecular clockwork, but Myk/+ mice exhibit concomitant disruption in circadian rhythms and mood...
May 20, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28677925/-usefulness-of-night-time-blood-pressure-measurement
#17
Edward Pivin, Fatma Megdiche, Michel Burnier, Grégoire Wuerzner
Since the use of ambulatory blood pressure monitoring (ABPM) in the beginning of the 70's, our perception of blood pressure based only on office blood pressure has been challenged. Indeed, more specific phenotypes such as white coat hypertension, masked hypertension or different circadian patterns of blood pressure have been described and studied. This has resulted in increased use of ambulatory blood pressure measurements for diagnostic and therapeutic purposes. The main focus of this paper is night-time blood pressure...
September 14, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28675567/a-modulatory-role-of-the-rax-homeobox-gene-in-mature-pineal-gland-function-investigating-the-photoneuroendocrine-circadian-system-of-a-rax-conditional-knockout-mouse
#18
Kristian Rohde, Tenna Bering, Takahisa Furukawa, Martin Fredensborg Rath
The retinal and anterior neural fold homeobox gene (Rax) controls development of the eye and the forebrain. Postnatal expression of Rax in the brain is restricted to the pineal gland, a forebrain structure devoted to melatonin synthesis. The role of Rax in pineal function is unknown. In order to investigate the role of Rax in pineal function while circumventing forebrain abnormalities of the global Rax knockout, we generated an eye and pineal-specific Rax conditional knockout mouse. Deletion of Rax in the pineal gland did not affect morphology of the gland, suggesting that Rax is not essential for pineal gland development...
July 4, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28660993/diagnostic-pitfalls-of-adrenal-incidentaloma
#19
Ewa Cyrańska-Chyrek, Małgorzata Grzymisławska, Marek Ruchała
Adrenal incidentaloma (AI) includes all lesions with diameter ≥ 1 cm found incidentally during imaging examinations not associated with suspected adrenal pathology. Every adrenal incidentaloma requires a detailed hormonal and imaging assessment. Initial diagnosis includes radiological phenotypical evaluation (particularly in CT, or in case of contraindications - in MRI) and biochemical assessment of tumour hormonal activity (which includes cortisol circadian rhythm, salivary cortisol concentration, 24-hour urinary free-cortisol and metanephrines test, short cortisol and dexamethasone suppression test, ACTH level assessment, aldosterone and ARO concentration, adrenal androgen concentration)...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28650662/glucose-restriction-combined-with-autophagy-inhibition-and-chemotherapy-in-hct-116-spheroids-decreases-cell-clonogenicity-and-viability-regulated-by-tumor-suppressor-genes
#20
Monica M Schroll, Gabriel J LaBonia, Katelyn R Ludwig, Amanda B Hummon
Drug resistance is a prevalent phenomenon that decreases the efficacy of cancer treatments and contributes to cancer progression and metastasis. Weakening drug-resistant cancer cells prior to chemotherapy is a potential strategy to combat chemoresistance. One approach to damage resistant cancer cells is modulation of nutritional intake. The combination of nutrient restriction with targeted compound treatment results in pronounced molecular changes. This study provides valuable information about augmenting existing chemotherapeutic regimes with simultaneous glucose restriction and autophagy inhibition in colorectal cancer cells...
August 4, 2017: Journal of Proteome Research
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