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Telomere research

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https://www.readbyqxmd.com/read/28068329/the-primacy-of-nf1-loss-as-the-driver-of-tumorigenesis-in-neurofibromatosis-type-1-associated-plexiform-neurofibromas
#1
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/28055115/measurement-of-t-cell-telomere-length-using-amplified-signal-fish-staining-and-flow-cytometry
#2
Andrea L Henning, Danielle E Levitt, Jakob L Vingren, Brian K McFarlin
Exposure to pathogen-associated molecular patterns (PAMPS), damage-associated molecular patterns (DAMPS), and physiologically challenging stimuli either positively or negatively affect leukocyte maturity. Cellular maturity has implications for the effectiveness of host response to bacterial or viral infection and/or tissue injury. Thus, the ability to accurately assess cellular maturity and health is important to fully understand immune status and function. The most common technique for measuring cellular maturity is to measure telomere length; however, existing techniques are not optimized for single-cell measurements using flow cytometry...
January 5, 2017: Current Protocols in Cytometry
https://www.readbyqxmd.com/read/28050886/evaluation-of-cortisol-and-telomere-length-measurements-in-ethnically-diverse-women-with-breast-cancer-using-culturally-sensitive-methods
#3
Julio Ramirez, May Elmofty, Esperanza Castillo, Mindy DeRouen, Salma Shariff-Marco, Laura Allen, Scarlett Lin Gomez, Anna María Nápoles, Leticia Márquez-Magaña
The under-representation of ethnic minority participants, who are more likely to be socially disadvantaged in biomedical research, limits generalizability of results and reductions in health disparities. To facilitate investigations of how social disadvantage "gets under the skin," this pilot study evaluated low-intensity methods for collecting hair and saliva samples from multiethnic breast cancer survivors (N = 70) and analysis of biomarkers of chronic stress (cortisol levels) and biological age (telomere length)...
January 3, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28050263/peculiarities-of-yeasts-and-human-telomerase-rnas-processing
#4
M P Rubtsova, D P Vasilkova, Yu V Naraykina, O A Dontsova
Telomerase is one of the major components of the telomeres -- linear eukaryotic chromosome ends - maintenance system. Linear chromosomes are shortened during each cell division due to the removal of the primer used for DNA replication. Special repeated telomere sequences at the very ends of linear chromosomes prevent the deletion of genome information caused by primer removal. Telomeres are shortened at each replication round until it becomes critically short and is no longer able to protect the chromosome in somatic cells...
October 2016: Acta Naturae
https://www.readbyqxmd.com/read/28027549/damage-of-chromosoms-under-irradiation-of-human-blood-lymphocytes-and-development-of-bystander-effect
#5
O V Shemetun
OBJECTIVE: the research the distribution of radiation induced damages among chromosomes and their bands in irra diated in vitro human blood lymphocytes and in unirradiated bystander cells.Material and methods of research: cultivation of human peripheral blood lymphocytes by semi micromethod D.A. Hungerford, modeling of radiation induced bystander effect in mixed cultures consisting of irradiated in vitro and non irradiated blood lymphocytes from persons of different gender, GTG staining of metaphase chromosomes and their cytogenetic analysis...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28025427/the-role-of-tert-clptm1l-snps-htert-expression-and-telomere-length-in-the-pathogenesis-of-oral-squamous-cell-carcinoma
#6
Jelena Carkic, Nadja Nikolic, Sanja Radojevic-Skodric, Jovana Kuzmanovic-Pficer, Gavrilo Brajovic, Marija Antunovic, Jelena Milasin, Branka Popovic
The aim of this study was to assess TERT-CLPTM1L single-nucleotide polymorphisms (SNPs) (rs402710 C/T in the CLPTM1L gene; rs2736100 A/C and rs2736098 G/A in the TERT gene) as risk factors for development of oral squamous cell carcinoma (OSCC), and to investigate the relationship between the analyzed polymorphisms, relative telomere length (RTL), telomerase expression and clinicopathologic characteristics of OSCC in a Serbian population. Paraffin-embedded tumor samples and buccal swabs from cancer-free controls were genotyped using PCR-RFLP, while tumor RTL values and telomerase expression were estimated by real-time PCR and immunohistochemistry, respectively...
2016: Journal of Oral Science
https://www.readbyqxmd.com/read/28013268/rna-g-quadruplexes-emerging-mechanisms-in-disease
#7
Anne Cammas, Stefania Millevoi
RNA G-quadruplexes (G4s) are formed by G-rich RNA sequences in protein-coding (mRNA) and non-coding (ncRNA) transcripts that fold into a four-stranded conformation. Experimental studies and bioinformatic predictions support the view that these structures are involved in different cellular functions associated to both DNA processes (telomere elongation, recombination and transcription) and RNA post-transcriptional mechanisms (including pre-mRNA processing, mRNA turnover, targeting and translation). An increasing number of different diseases have been associated with the inappropriate regulation of RNA G4s exemplifying the potential importance of these structures on human health...
December 23, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27986793/a-snp-based-linkage-map-of-the-arctic-charr-salvelinus-alpinus-genome-provides-insights-into-the-diploidization-process-after-whole-genome-duplication
#8
Cameron M Nugent, Anne A Easton, Joseph D Norman, Moira M Ferguson, Roy G Danzmann
Diploidization, which follows whole genome duplication events, does not occur evenly across the genome. In salmonid fishes, certain pairs of homeologous chromosomes preserve tetraploid loci in higher frequencies towards the telomeres due to residual tetrasomic inheritance. Research suggests this occurs only in homeologous pairs where one chromosome arm has undergone a fusion event. We present a linkage map for Arctic charr (Salvelinus alpinus), a salmonid species with relatively fewer chromosome fusions. Genotype by sequencing identified 19,418 SNPs and a linkage map consisting of 4508 markers was constructed from a subset of high quality SNPs and microsatellite markers that were used to anchor the new map to previous versions...
December 16, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27981152/telomeres-and-stress-promising-avenues-for-research-in-psycho-oncology
#9
REVIEW
Eleanor Law, Afaf Girgis, Lambert Sylvie, Janelle Levesque, Hilda Pickett
A cancer diagnosis and subsequent treatment is a stressful experience with the potential for long-term health consequences for both patients and their caregivers. It is now well-established that psychological stress is associated with detrimental effects on physical health. Recent studies have investigated the link between telomeres, the protective cap at the end of chromosomes, and stress, suggesting that stress potentially impacts on cellular aging through telomere shortening, with subsequent consequences for health...
April 2016: Asia-Pacific Journal of Oncology Nursing
https://www.readbyqxmd.com/read/27943596/the-telomere-lengthening-conundrum-it-could-be-biology
#10
Melissa Bateson, Daniel Nettle
Longitudinal studies of human leucocyte telomere length often report a percentage of individuals whose telomeres appear to lengthen. However, based on theoretical considerations and empirical data, Steenstrup et al. (Nucleic Acids Research, 2013, vol 41(13): e131) concluded that this lengthening is unlikely to be a real biological phenomenon and is more likely to be an artefact of measurement error. We dispute the logic underlying this claim. We argue that Steenstrup et al.'s analysis is incomplete because it failed to compare predictions derived from assuming a scenario with no true telomere lengthening with alternative scenarios in which true lengthening occurs...
December 12, 2016: Aging Cell
https://www.readbyqxmd.com/read/27936741/interaction-of-a-cationic-porphyrin-and-its-metal-derivatives-with-g-quadruplex-dna
#11
Eric Boschi, Supriya Davis, Scott Taylor, Andrew Butterworth, Lilyan A Chirayath, Vaishali Purohit, Laura K Siegel, Janesha Buenaventura, Alexandra H Sheriff, Rowen Jin, Richard Sheardy, Liliya A Yatsunyk, Mahrukh Azam
G-quadruplex (GQ) structures formed from guanine-rich sequences are found throughout the genome and are overrepresented in the promoter regions of some oncogenes, at the telomeric ends of eukaryotic chromosomes, and at the 5'-untranslated regions of mRNA. Interaction of small molecule ligands with GQ DNA is an area of great research interest to develop novel anticancer therapeutics and GQ sensors. In this paper we examine the interactions of TMPyP4, its isomer TMPyP2 (containing N-methyl-2-pyridyl substituents, N-Me-2Py) as well as two metal derivatives ZnTMPyP4 and CuTMPyP4 with GQs formed by dT4G4 and dT4G4T in 100 mM K(+) or Na(+) conditions...
December 22, 2016: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/27918657/telomere-length-in-elite-athletes
#12
Carlos A Muniesa, Zoraida Verde, Germán Diaz-Ureña, Catalina Santiago, Fernando Gutiérrez, Enrique Díaz, Félix Gómez-Gallego, Helios Pareja-Galeano, Luisa Soares-Miranda, Alejandro Lucia
PURPOSE: Growing evidence suggests that regular, moderate-intensity physical activity is associated with an attenuation of leucocyte telomere length (LTL) shortening. However, more controversy exists regarding higher exercise loads, such as those imposed by elite sports participation. METHODS: We have investigated LTL differences between young elite athletes (n=61, 54% men, aged [mean±SD] 27.2±4.9 years) and their healthy non-smoker, physically inactive controls (n=64, 52% men, 28...
December 5, 2016: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/27905873/comparative-genomics-of-beauveria-bassiana-uncovering-signatures-of-virulence-against-mosquitoes
#13
Claudio A Valero-Jiménez, Luigi Faino, Daphne Spring In't Veld, Sandra Smit, Bas J Zwaan, Jan A L van Kan
BACKGROUND: Entomopathogenic fungi such as Beauveria bassiana are promising biological agents for control of malaria mosquitoes. Indeed, infection with B. bassiana reduces the lifespan of mosquitoes in the laboratory and in the field. Natural isolates of B. bassiana show up to 10-fold differences in virulence between the most and the least virulent isolate. In this study, we sequenced the genomes of five isolates representing the extremes of low/high virulence and three RNA libraries, and applied a genome comparison approach to uncover genetic mechanisms underpinning virulence...
December 1, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27885670/telomeric-localization-of-the-arabidopsis-type-heptamer-repeat-tttaggg-n-at-the-chromosome-ends-in-saccharina-japonica-phaeophyta
#14
Q F Yang, L Liu, Y Liu, Z G Zhou
Telomeres generally consist of short repeats of minisatellite DNA sequences and are useful in chromosome identification and karyotype analysis. To date, telomeres have not been characterized in the economic brown seaweed Saccharina japonica, thus its full cytogenetic research and genetic breeding potential has not been realized. Herein, the tentative sequence of telomeres in S. japonica was identified by PCR amplification with primers designed based on the Arabidopsis-type telomere sequence (TTTAGGG)n , which was chosen out of 3 possible telomeric repeat DNA sequences typically present in plants and algae...
November 25, 2016: Journal of Phycology
https://www.readbyqxmd.com/read/27871926/the-telomere-attrition-rate-is-not-accelerated-in-women-born-small-for-gestational-age-a-birth-cohort-study
#15
Anderson Sanches de Melo, Rosana Maria Dos Reis, Rodrigo T Calado, Ricardo de Carvalho Cavalli, Heloisa Bettiol, Viviane Cunha Cardoso, Rui Alberto Ferriani, Marco Antonio Barbieri, Carolina Sales Vieira
Physiologically, a reduction in telomere length (LTL) occurs with aging, but epigenetic changes may accelerate telomere shortening and also facilitate the onset of oxidative/inflammatory stress and the development of clinical/metabolic comorbidities in life spam. Although individuals born small for gestational age (SGA) may be related to those epigenetic changes, the assessment of LTL in individuals born SGA has yielded conflicting results (only cross-sectional studies) and has not been carried out in longitudinal studies...
February 5, 2017: Gene
https://www.readbyqxmd.com/read/27870251/concise-review-getting-to-the-core-of-inherited-bone-marrow-failures
#16
Soheir Adam, Dario Melguizo Sanchis, Ghada El-Kamah, Sujith Samarasinghe, Sameer Alharthi, Lyle Armstrong, Majlinda Lako
Bone marrow failure syndromes (BMFS) are a group of disorders with complex pathophysiology characterized by a common phenotype of peripheral cytopenia and/or hypoplastic bone marrow. Understanding genetic factors contributing to the pathophysiology of BMFS has enabled the identification of causative genes and development of diagnostic tests. To date more than 40 mutations in genes involved in maintenance of genomic stability, DNA repair, ribosome and telomere biology have been identified. In addition, pathophysiological studies have provided insights into several biological pathways leading to the characterization of genotype/phenotype correlations as well as the development of diagnostic approaches and management strategies...
November 21, 2016: Stem Cells
https://www.readbyqxmd.com/read/27837550/key-issues-related-to-cryopreservation-and-storage-of-stem-cells-and-cancer-stem-cells-protecting-biological-integrity
#17
Feridoun Karimi-Busheri, Aghdass Rasouli-Nia, Michael Weinfeld
Cryopreservation and biobanking of stem cells are becoming increasingly important as stem cell technology and application attract the interest of industry, academic research, healthcare and patient organisations. Stem cell are already being used in the treatment of some diseases and it is anticipated that stem cell therapy will play a central role in future medicine. Similarly, the discovery of both hematopoietic and solid tumor stem cells and their clinical relevance have profoundly altered paradigms for cancer research as the cancer stem cells are considered promising new targets against cancer...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27836977/impaired-telomere-length-and-telomerase-activity-in-peripheral-blood-leukocytes-and-granulosa-cells-in-patients-with-biochemical-primary-ovarian-insufficiency
#18
Xiaofei Xu, Xinxia Chen, Xiruo Zhang, Yixun Liu, Zhao Wang, Peng Wang, Yanzhi Du, Yingying Qin, Zi-Jiang Chen
STUDY QUESTION: Are telomere length and telomerase activity associated with biochemical primary ovarian insufficiency (POI)? SUMMARY ANSWER: Shortened telomere length and diminished telomerase activity were associated with biochemical POI. WHAT IS KNOWN ALREADY: POI is a result of pathological reproductive aging and encompasses occult, biochemical and overt stages. Studies have indicated telomere length as a biomarker for biological aging...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27832427/dna-methylation-changes-in-response-to-active-smoking-exposure-are-associated-with-leukocyte-telomere-length-among-older-adults
#19
Xu Gao, Ute Mons, Yan Zhang, Lutz Philipp Breitling, Hermann Brenner
Telomere length (TL) is associated with an increased risk of aging-related diseases. As a preventable environmental hazard of morbidity and mortality, smoking has been reported to promote TL attrition by producing a variety of oxidants and free radicals. Since DNA methylation has been demonstrated to play an important role in the pathways of smoking and smoking-induced diseases, this study aimed to address whether the smoking-associated DNA methylation changes could be associated with accelerated TL shortening...
November 10, 2016: European Journal of Epidemiology
https://www.readbyqxmd.com/read/27801425/overview-of-the-rna-g-quadruplex-structures
#20
REVIEW
Magdalena Malgowska, Karolina Czajczynska, Dorota Gudanis, Aleksander Tworak, Zofia Gdaniec
G-quadruplexes are non-canonical secondary structures which may be formed by guanine rich sequences, both in vitro and in living cells. The number of biological functions assigned to these structural motifs has grown rapidly since the discovery of their involvement in the telomere maintenance. Knowledge of the G-quadruplexes' three-dimensional structures plays an important role in understanding of their conformational diversity, physiological functions, and in the design of novel drugs targeting the G-quadruplexes...
2016: Acta Biochimica Polonica
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