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https://www.readbyqxmd.com/read/28087374/what-stoichiometries-determined-by-mass-spectrometry-reveal-about-the-ligand-binding-mode-to-g-quadruplex-nucleic-acids
#1
Michael J Lecours, Adrien Marchand, Ahdia Anwar, Corinne Guetta, W Scott Hopkins, Valérie Gabelica
G-quadruplexes (G4s) have become important drug targets to regulate gene expression and telomere maintenance. Many studies on G4 ligand binding focus on determining the ligand binding affinities and selectivities. Ligands, however, can also affect the G4 conformation. Here we explain how to use electrospray ionization mass spectrometry (ESI-MS) to monitor simultaneously ligand binding and cation binding stoichiometries. The changes in potassium binding stoichiometry upon ligand binding hint at ligand-induced conformational changes involving a modification of the number of G-quartets...
January 10, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28081238/genomic-organization-of-repetitive-dna-in-woodpeckers-aves-piciformes-implications-for-karyotype-and-zw-sex-chromosome-differentiation
#2
Thays Duarte de Oliveira, Rafael Kretschmer, Natasha Avila Bertocchi, Tiago Marafiga Degrandi, Edivaldo Herculano Corrêa de Oliveira, Marcelo de Bello Cioffi, Analía Del Valle Garnero, Ricardo José Gunski
Birds are characterized by a low proportion of repetitive DNA in their genome when compared to other vertebrates. Among birds, species belonging to Piciformes order, such as woodpeckers, show a relatively higher amount of these sequences. The aim of this study was to analyze the distribution of different classes of repetitive DNA-including microsatellites, telomere sequences and 18S rDNA-in the karyotype of three Picidae species (Aves, Piciformes)-Colaptes melanochloros (2n = 84), Colaptes campestris (2n = 84) and Melanerpes candidus (2n = 64)-by means of fluorescence in situ hybridization...
2017: PloS One
https://www.readbyqxmd.com/read/28078514/the-molecular-basis-of-the-organization-of-repetitive-dna-containing-constitutive-heterochromatin-in-mammals
#3
REVIEW
Gohei Nishibuchi, Jérôme Déjardin
Constitutive heterochromatin is composed mainly of repetitive elements and represents the typical inert chromatin structure in eukaryotic cells. Approximately half of the mammalian genome is made of repeat sequences, such as satellite DNA, telomeric DNA, and transposable elements. As essential genes are not present in these regions, most of these repeat sequences were considered as junk DNA in the past. However, it is now clear that these regions are essential for chromosome stability and the silencing of neighboring genes...
January 11, 2017: Chromosome Research
https://www.readbyqxmd.com/read/28078335/dynamics-of-active-rouse-chains
#4
Dino Osmanović, Yitzhak Rabin
We consider how active forces modeled as non-thermal random noise affect the average dynamical properties of a Rouse polymer. As the power spectrum of the noise is not known we keep the analytical treatment as generic as possible and then present results for a few examples of active noise. We discuss the connection between our results and recent experimental studies of dynamics of labeled DNA telomeres in living cells, and propose new chromatin tracking experiments that will allow one to determine the statistical properties of the active forces associated with chromatin remodeling processes...
January 12, 2017: Soft Matter
https://www.readbyqxmd.com/read/28076340/telomere-length-assessment-for-prediction-of-organ-transplantation-outcome-future-or-failure-a-review-of-the-literature
#5
Karolina Kłoda, Leszek Domański, Artur Mierzecki
Telomeres are located at each end of eukaryotic chromosomes. Their functional role is genomic stability maintenance. The protective role of telomeres depends on various factors, including number of nucleotides repeats, telomere-binding proteins, and telomerase activity. Organ transplantation is the preferred replacement therapy in the case of chronic kidney disease and the only possibility of sustaining recipients' life in the case of advanced liver failure. While the prevalence of acute rejection is constantly decreasing, prevention of transplanted organ long-term function loss is still challenging...
January 11, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28074901/live-visualization-of-genomic-loci-with-bifc-tale
#6
Huan Hu, Hongmin Zhang, Sheng Wang, Miao Ding, Hui An, Yingping Hou, Xiaojing Yang, Wensheng Wei, Yujie Sun, Chao Tang
Tracking the dynamics of genomic loci is important for understanding the mechanisms of fundamental intracellular processes. However, fluorescent labeling and imaging of such loci in live cells have been challenging. One of the major reasons is the low signal-to-background ratio (SBR) of images mainly caused by the background fluorescence from diffuse full-length fluorescent proteins (FPs) in the living nucleus, hampering the application of live cell genomic labeling methods. Here, combining bimolecular fluorescence complementation (BiFC) and transcription activator-like effector (TALE) technologies, we developed a novel method for labeling genomic loci (BiFC-TALE), which largely reduces the background fluorescence level...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28072696/cerebroretinal-microangiopathy-with-calcifications-and-cysts-a-case-report
#7
Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang
RATIONAL: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28070333/corticosterone-inflammation-immune-status-and-telomere-length-in-frigatebird-nestlings-facing-a-severe-herpesvirus-infection
#8
Manrico Sebastiano, Marcel Eens, Frederic Angelier, Kévin Pineau, Olivier Chastel, David Costantini
Herpesvirus outbreaks are common in natural animal populations, but little is known about factors that favour the infection and its consequences for the organism. In this study, we examined the pathophysiological consequences of a disease probably attributable to herpesvirus infection for several markers of immune function, corticosterone, telomere length and inflammation. In addition, we assessed whether any markers used in this study might be associated with the occurrence of visible clinical signs of the disease and its impact on short-term survival perspectives...
2017: Conservation Physiology
https://www.readbyqxmd.com/read/28068329/the-primacy-of-nf1-loss-as-the-driver-of-tumorigenesis-in-neurofibromatosis-type-1-associated-plexiform-neurofibromas
#9
A Pemov, H Li, R Patidar, N F Hansen, S Sindiri, S W Hartley, J S Wei, A Elkahloun, S C Chandrasekharappa, J F Boland, S Bass, J C Mullikin, J Khan, B C Widemann, M R Wallace, D R Stewart
Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to germline mutations in the tumor suppressor gene NF1. A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely congenital tumor that arises from bi-allelic inactivation of NF1. PN can undergo transformation to a malignant peripheral nerve sheath tumor, an aggressive soft-tissue sarcoma. To better understand the non-NF1 genetic contributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-number determination for 23 low-passage Schwann cell cultures established from surgical PN material with matching germline DNA...
January 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28067869/clinical-and-biological-markers-of-premature-aging-after-autologous-sct-in-childhood-cancer
#10
A Vatanen, M Hou, T Huang, O Söder, T Jahnukainen, M Kurimo, T H Ojala, T Sarkola, M Turanlahti, U M Saarinen-Pihkala, K Jahnukainen
The aim of this study was to analyze the prevalence of frailty and physical health limitations among long-term survivors of high-risk neuroblastoma (HR NBL) and to investigate whether frail health is associated with variables of cardiovascular function, markers of inflammation and telomere length. A national study cohort of 19 (median age 22, range 16-30 years) long-term (>10 years) HR NBL survivors was studied and the findings were compared with 20 age- and sex-matched controls. Frailty was defined as ⩾3 of the following conditions: low muscle mass, low energy expenditure, slow running and weakness...
January 9, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28067787/effects-of-replication-and-transcription-on-dna-structure-related-genetic-instability
#11
REVIEW
Guliang Wang, Karen M Vasquez
Many repetitive sequences in the human genome can adopt conformations that differ from the canonical B-DNA double helix (i.e., non-B DNA), and can impact important biological processes such as DNA replication, transcription, recombination, telomere maintenance, viral integration, transposome activation, DNA damage and repair. Thus, non-B DNA-forming sequences have been implicated in genetic instability and disease development. In this article, we discuss the interactions of non-B DNA with the replication and/or transcription machinery, particularly in disease states (e...
January 5, 2017: Genes
https://www.readbyqxmd.com/read/28065761/g-quadruplexes-unfolding-by-rhau-helicase
#12
Nassima Meriem Gueddouda, Oscar Mendoza, Dennis Gomez, Anne Bourdoncle, Jean-Louis Mergny
G-quadruplexes (G4) are RNA and DNA secondary structures formed by the stacking of guanine quartets in guanine rich sequences. Quadruplex-prone motifs may be found in key genomic regions such as telomeres, ribosomal DNA, transcriptional activators and regulators or oncogene promoters. A number of proteins involved in various biological processes are able to interact with G4s. Among them, proteins dedicated to nucleic acids unwinding such as WRN, BLM, FANCJ or PIF1, can unfold G4 structures. Mutations of these helicases are linked to genome instability and to increases in cancer risks...
January 5, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28064387/the-role-of-histone-modifications-and-telomere-alterations-in-the-pathogenesis-of-diffuse-gliomas-in-adults-and-children
#13
REVIEW
Julieann Lee, D A Solomon, Tarik Tihan
Genetic profiling is an increasingly useful tool for sub-classification of gliomas in adults and children. Specific gene mutations, structural rearrangements, DNA methylation patterns, and gene expression profiles are now recognized to define molecular subgroups of gliomas that arise in distinct anatomic locations and patient age groups, and also provide a better prediction of clinical outcomes for glioma patients compared to histologic assessment alone. Understanding the role of these distinctive genetic alterations in gliomagenesis is also important for the development of potential targeted therapeutic interventions...
January 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28062617/growth-differentiation-factor-15-as-a-biomarker-in-cardiovascular-disease
#14
REVIEW
Kai C Wollert, Tibor Kempf, Lars Wallentin
BACKGROUND: Growth differentiation factor 15 (GDF-15) is expressed and secreted in response to inflammation, oxidative stress, hypoxia, telomere erosion, and oncogene activation. Cardiovascular (CV) disease is a major driver of GDF-15 production. GDF-15 has favorable preanalytic characteristics and can be measured in serum and plasma by immunoassay. CONTENT: In community-dwelling individuals higher concentrations of GDF-15 are associated with increased risks of developing CV disease, chronic kidney disease, and cancer, independent of traditional CV risk factors, renal function, and other biomarkers (C-reactive protein, B-type natriuretic peptide, cardiac troponin)...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28062559/atrx-and-daxx-mechanisms-and-mutations
#15
Michael A Dyer, Zulekha A Qadeer, David Valle-Garcia, Emily Bernstein
Recent genome sequencing efforts in a variety of cancers have revealed mutations and/or structural alterations in ATRX and DAXX, which together encode a complex that deposits histone variant H3.3 into repetitive heterochromatin. These regions include retrotransposons, pericentric heterochromatin, and telomeres, the latter of which show deregulation in ATRX/DAXX-mutant tumors. Interestingly, ATRX and DAXX mutations are often found in pediatric tumors, suggesting a particular developmental context in which these mutations drive disease...
January 6, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#16
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28058238/sedentary-behavior-physical-activity-and-cardiorespiratory-fitness-on-leukocyte-telomere-length
#17
Meghan K Edwards, Paul D Loprinzi
Background: Emerging work is starting to investigate the cumulative effects of moderate-to-vigorous physical activity (MVPA), sedentary behavior and cardiorespiratory fitness on health. The objective of this study was to examine the cumulative and independent associations of MVPA, sedentary behavior and cardiorespiratory fitness on leukocyte telomere length (LTL). Methods: Data from the 1999-2002 National Health and Nutrition Examination Survey (NHANES) were used (N = 1868 adults 20+ years); analyzed in 2016...
2017: Health Promotion Perspectives
https://www.readbyqxmd.com/read/28057933/polymorphisms-in-telomere-length-associated-terc-and-tert-predispose-for-ischemic-stroke-in-a-chinese-han-population
#18
Shuo Zhang, Guofa Ji, Yiqian Liang, Rui Zhang, Puyu Shi, Dangshe Guo, Chunqi Li, Jing Feng, Feng Liu, Rong Peng, Mingwei Chen
The role of telomere in genomic stability is an established fact. Variation in leukocyte telomere length (LTL) has been considered a crucial factor that associated with age-associated diseases. To elucidate the association between LTL variation and ischemic stroke (IS) risk, we selected ten single nucleotide polymorphisms (SNPs) in three genes (TERC, TERT and RTEL1) that previously reported link to LTL, and genotyped SNPs of these genes in a case-control study. The association between polymorphisms and IS risk were tested by Chi squared test and haplotype analysis...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056862/association-between-telomere-length-and-the-risk-of-colorectal-cancer-a-meta-analysis-of-observational-studies
#19
Cho Naing, Kyan Aung, Pei Kuan Lai, Joon Wah Mak
BACKGROUND: Human chromosomes are capped and stabilized by telomeres. Telomere length regulates a 'cellular mitotic clock' that defines the number of cell divisions and hence, cellular life span. This study aimed to synthesize the evidence on the association between peripheral blood leucocytes (PBL) telomere length and the risk of colorectal cancer (CRC). METHODS: We searched relevant studies in electronic databases. When two or more observational studies reported the same outcome measures, we performed pooled analysis...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28056029/hcv-induces-telomerase-reverse-transcriptase-increases-its-catalytic-activity-and-promotes-caspase-degradation-in-infected-human-hepatocytes
#20
Zhaowen Zhu, Huy Tran, M Meleah Mathahs, Thomas O Moninger, Warren N Schmidt
INTRODUCTION: Telomerase repairs the telomeric ends of chromosomes and is active in nearly all malignant cells. Hepatitis C virus (HCV) is known to be oncogenic and potential interactions with the telomerase system require further study. We determined the effects of HCV infection on human telomerase reverse transcriptase (TERT) expression and enzyme activity in primary human hepatocytes and continuous cell lines. RESULTS: Primary human hepatocytes and Huh-7.5 hepatoma cells showed early de novo TERT protein expression 2-4 days after infection and these events coincided with increased TERT promoter activation, TERT mRNA, and telomerase activity...
2017: PloS One
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