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https://www.readbyqxmd.com/read/27926791/high-prevalence-of-mitf-staining-in-undifferentiated-pleomorphic-sarcoma-caution-in-use-of-melanocytic-markers-in-sarcoma
#1
Bonnie Choy, Elizabeth Hyjek, Anthony G Montag, Peter Pytel, Rex Haydon, Hue H Luu, Chao Jie Zhen, Bradley C Long, Sabah Kadri, Jeremy P Segal, Larissa V Furtado, Nicole A Cipriani
AIMS: Diagnosis of undifferentiated pleomorphic sarcoma (UPS) may be challenging, as other lesions with undifferentiated spindle cell morphology must be excluded, including melanoma. Microphthalmia-associated transcription factor (MiTF) stains nevi and epithelioid melanomas, as well as some mesenchymal neoplasms. We evaluated the prevalence of MiTF and melanocytic markers in UPS and a subset of atypical fibroxanthoma (AFX). METHODS AND RESULTS: MiTF, SOX10, Melan-A, HMB45, and S100 immunostains were performed on resection specimens from 19 UPS and 5 AFX...
December 7, 2016: Histopathology
https://www.readbyqxmd.com/read/27924489/kinetic-analysis-of-target-rna-binding-and-slicing-by-human-argonaute-2-protein
#2
Sarah Willkomm, Tobias Restle
Analyzing the mechanisms of Argonaute-mediated gene silencing is essential to the understanding of RNA interference (RNAi). RNAi is a process to regulate gene expression on a posttranscriptional level. Directed by single-stranded small RNA guides, Argonaute 2 binds complementary target RNAs, and if the guide displays full complementarity to the targeted sequence, Argonaute 2 slices the bound target RNA. This on the one hand is an important mechanism to regulate gene expression in the cell and on the other hand represents a powerful tool to interfere with harmful gene expression levels...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924045/a-novel-method-for-the-simultaneous-identification-of-methylcytosine-and-hydroxymethylcytosine-at-a-single-base-resolution
#3
Yuki Kawasaki, Yukiko Kuroda, Isao Suetake, Shoji Tajima, Fumitoshi Ishino, Takashi Kohda
Since the discovery of oxidative demethylation of methylcytosine (mC) by Tet enzymes, an analytical method has been urgently needed that would enable the identification of mC and hydroxymethylcytosine (hmC) at the single base resolution level, because their roles in gene regulation are quite different from each other. However, the bisulfite sequencing method, the gold standard for DNA methylation analysis at present, does not distinguish them. Recently reported alternative methods, such as oxBS-seq and TAB-seq, are not even capable of determining mC and hmC simultaneously...
October 24, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27923803/whole-exome-sequencing-validates-a-preclinical-mouse-model-for-the-prevention-and-treatment-of-cutaneous-squamous-cell-carcinoma
#4
Elena V Knatko, Brandon Praslicka, Maureen Higgins, Alan Evans, Karin J Purdie, Catherine A Harwood, Charlotte M Proby, Aikseng Ooi, Albena T Dinkova-Kostova
Cutaneous squamous cell carcinomas (cSCC) are among the most common and highly mutated human malignancies. Solar UV radiation is the major factor in the etiology of cSCC. Whole exome sequencing of 18 microdissected tumor samples (cases) derived from SKH-1 hairless mice that had been chronically exposed to solar-simulated UV (SSUV) radiation showed a median point mutation (single nucleotide polymorphism, SNP) rate of 155 per megabase. The majority (78.6%) of the SNPs are C.G>T.A transitions, a characteristic UVR-induced mutational signature...
December 6, 2016: Cancer Prevention Research
https://www.readbyqxmd.com/read/27923064/sparse-regression-based-structure-learning-of-stochastic-reaction-networks-from-single-cell-snapshot-time-series
#5
Anna Klimovskaia, Stefan Ganscha, Manfred Claassen
Stochastic chemical reaction networks constitute a model class to quantitatively describe dynamics and cell-to-cell variability in biological systems. The topology of these networks typically is only partially characterized due to experimental limitations. Current approaches for refining network topology are based on the explicit enumeration of alternative topologies and are therefore restricted to small problem instances with almost complete knowledge. We propose the reactionet lasso, a computational procedure that derives a stepwise sparse regression approach on the basis of the Chemical Master Equation, enabling large-scale structure learning for reaction networks by implicitly accounting for billions of topology variants...
December 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27923045/tumor-evolution-in-two-patients-with-basal-like-breast-cancer-a-retrospective-genomics-study-of-multiple-metastases
#6
Katherine A Hoadley, Marni B Siegel, Krishna L Kanchi, Christopher A Miller, Li Ding, Wei Zhao, Xiaping He, Joel S Parker, Michael C Wendl, Robert S Fulton, Ryan T Demeter, Richard K Wilson, Lisa A Carey, Charles M Perou, Elaine R Mardis
BACKGROUND: Metastasis is the main cause of cancer patient deaths and remains a poorly characterized process. It is still unclear when in tumor progression the ability to metastasize arises and whether this ability is inherent to the primary tumor or is acquired well after primary tumor formation. Next-generation sequencing and analytical methods to define clonal heterogeneity provide a means for identifying genetic events and the temporal relationships between these events in the primary and metastatic tumors within an individual...
December 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27921386/cytotoxicity-of-a-series-of-norcantharidin-inspired-tetrahydroepoxyisoindole-carboxamides
#7
Christopher Peter Gordon, Lawson K Spare, Pasquale Falsetta, Jayne Gilbert, David G Harman, Mark A Baker, Feng Li, Adam McCluskey, Jack K Clegg, Jennette A Sakoff, Janice R Aldrich-Wright
A series of 28 norcantharidin (NorC) inspired analogues were accessed via a robust two-step Ugi intramolecular Diels-Alder (IMDA) sequence. Four analogues displayed equipotent whole cell cytotoxicity to NorC and cisplatin against a number of cancer cell lines and a normal breast cell line (MCF10A). Notably (3S,3aS,6R)-2-benzyl-7-methyl-N-(naphthalen-2-yl)-1-oxo-1,2,3,6-tetrahydro-3a,6-epoxyisoindole-3-carboxamide (trans-27) displayed superior whole cell activity against breast (MCF-7, GI50 = 2.9 µM) and colon (HT29, GI50 = 6...
December 6, 2016: ChemMedChem
https://www.readbyqxmd.com/read/27921343/complete-genome-sequence-of-streptococcus-troglodytae-tku31-isolated-from-an-oral-cavity-of-chimpanzee-pan-troglodytes
#8
Masaaki Okamoto, Mariko Naito, Mayu Miyanohara, Susumu Imai, Yoshiaki Nomura, Wataru Saito, Yasuko Momoi, Kazuko Takada, Takako Miyabe-Nishiwaki, Masaki Tomonaga, Nobuhiro Hanada
Streptococcus troglodytae TKU31 was isolated from an oral cavity of chimpanzee (Pan troglodytes), and it is the most closely related species to Streptococcus mutans among the mutans group streptococci. The complete sequence of TKU31 genome consisted of a single circular chromosome that was 2,097,874 base pairs in length, with a G + C content of 37.18%. It possessed a total of 2,082 coding sequences (CDSs), 65 tRNAs and five rRNA operons (15 rRNAs). Two clustered regularly interspaced short palindromic repeats (CRISPRs), six insertion sequences (IS) and two predicted prophage elements were identified...
December 6, 2016: Microbiology and Immunology
https://www.readbyqxmd.com/read/27920797/genome-wide-association-study-for-identifying-loci-that-affect-fillet-yield-carcass-and-body-weight-traits-in-rainbow-trout-oncorhynchus-mykiss
#9
Dianelys Gonzalez-Pena, Guangtu Gao, Matthew Baranski, Thomas Moen, Beth M Cleveland, P Brett Kenney, Roger L Vallejo, Yniv Palti, Timothy D Leeds
Fillet yield (FY, %) is an economically-important trait in rainbow trout aquaculture that affects production efficiency. Despite that, FY has received little attention in breeding programs because it is difficult to measure on a large number of fish and cannot be directly measured on breeding candidates. The recent development of a high-density SNP array for rainbow trout has provided the needed tool for studying the underlying genetic architecture of this trait. A genome-wide association study (GWAS) was conducted for FY, body weight at 10 (BW10) and 13 (BW13) months post-hatching, head-off carcass weight (CAR), and fillet weight (FW) in a pedigreed rainbow trout population selectively bred for improved growth performance...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27920086/a-role-for-mitotic-bookmarking-of-sox2-in-pluripotency-and-differentiation
#10
Cédric Deluz, Elias T Friman, Daniel Strebinger, Alexander Benke, Mahé Raccaud, Andrea Callegari, Marion Leleu, Suliana Manley, David M Suter
Mitotic bookmarking transcription factors remain bound to chromosomes during mitosis and were proposed to regulate phenotypic maintenance of stem and progenitor cells at the mitosis-to-G1 (M-G1) transition. However, mitotic bookmarking remains largely unexplored in most stem cell types, and its functional relevance for cell fate decisions remains unclear. Here we screened for mitotic chromosome binding within the pluripotency network of embryonic stem (ES) cells and show that SOX2 and OCT4 remain bound to mitotic chromatin through their respective DNA-binding domains...
December 5, 2016: Genes & Development
https://www.readbyqxmd.com/read/27920058/a-novel-somatic-mutation-achieves-partial-rescue-in-a-child-with-hutchinson-gilford-progeria-syndrome
#11
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS...
December 5, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27917789/stimulation-of-protein-expression-through-the-harmonic-resonance-of-frequency-specific-music
#12
Ibrahim Y Orhan, Burak A Gulbahar
PURPOSE: The use of specific frequencies for specific individual amino acids may increase the potential energy of protein molecules in the medium [1]. The resonance would also increase the movement of particles in the cytosol, increasing the collisions necessary for the conduction of protein expression. METHODS: The clash of two waves that share frequencies will exhibit an increase in energy through an increase in amplitude [2]. The increase in energy would in turn increase the number of collisions forming the tRNA-amino acid, increasing the amino acid acquiry for ribosomes to improve intracellular efficiency in gene expression...
December 1, 2016: Clinical and Investigative Medicine. Médecine Clinique et Experimentale
https://www.readbyqxmd.com/read/27915180/self-primed-isothermal-amplification-for-genomic-dna-detection-of-human-papillomavirus
#13
Wei Lu, Qingpan Yuan, Zhiliu Yang, Bo Yao
Rolling circle amplification (RCA) is an isothermal amplification technique with high efficiency and perfect accuracy for nucleic acids detection. However, RCA technique suffers the limitation to detect short DNA or RNA molecules. For long nucleic acid molecules, enzymatic restriction as well as heat denaturation process is usually required, which makes the amplification not effective and strictly isothermal. In this article, a simple and efficient one-pot self-primed isothermal amplification (SIA) was developed for detection of genomic DNA directly based on the combination of nicking endonuclease assisted strand displacement amplification (SDA) and exponential RCA...
October 10, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27914932/detection-of-human-immunodeficiency-virus-rnas-in-living-cells-using-spinach-rna-aptamers
#14
Brandon D Burch, Carolina Garrido, David M Margolis
Many techniques currently used to measure HIV RNA production in cells suffer from limitations that include high background signal or the potential to destroy cellular context. Fluorophore-binding RNA aptamers offer the potential for visualizing RNAs directly in living cells with minimal cellular perturbation. We inserted a sequence encoding a fluorophore-binding RNA aptamer, known as Spinach, into the HIV genome such that predicted RNA secondary structures in both Spinach and HIV were preserved. Chimeric HIV-Spinach RNAs were functionally validated in vitro by testing their ability to enhance the fluorescence of a conditional fluorophore (DFHBI), which specifically binds Spinach...
November 30, 2016: Virus Research
https://www.readbyqxmd.com/read/27914115/molecular-phylogeny-and-taxonomy-of-a-new-freshwater-hymenostomatid-from-northeastern-china-with-the-establishment-of-a-new-genus-anteglaucoma-gen-n-protista-ciliophora-oligohymenophorea
#15
Xuming Pan, Zihan Shi, Chundi Wang, William A Bourland, Ying Chen, Weibo Song
The morphology, infraciliature and SSU rDNA sequence of a new freshwater hymenostomatid ciliate, Anteglaucoma harbinensis gen. nov., spec. nov., collected from a farmland pond in Harbin, China, were investigated. The new genus Anteglaucoma is characterized as follows: small to medium-sized Glaucomidae with oral apparatus in anterior one-third of cell; paroral membrane composed of almost longitudinally arranged dikinetids; three adoral membranelles nearly equal in length and arranged almost longitudinally in parallel; silverline pattern tetrahymenid...
November 7, 2016: Journal of Eukaryotic Microbiology
https://www.readbyqxmd.com/read/27913728/fission-yeast-stn1-is-crucial-for-semi-conservative-replication-at-telomeres-and-subtelomeres
#16
Masahiro Takikawa, Yusuke Tarumoto, Fuyuki Ishikawa
The CST complex is a phylogenetically conserved protein complex consisting of CTC1/Cdc13, Stn1 and Ten1 that protects telomeres on linear chromosomes. Deletion of the fission yeast homologs stn1 and ten1 results in complete telomere loss; however, the precise function of Stn1 is still largely unknown. Here, we have isolated a high-temperature sensitive stn1 allele (termed stn1-1). stn1-1 cells abruptly lost telomeric sequence almost completely at the restrictive temperature. The loss of chromosomal DNA happened without gradual telomere shortening, and extended to 30 kb from the ends of chromosomes...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27913623/chac2-an-enzyme-for-slow-turnover-of-cytosolic-glutathione
#17
Amandeep Kaur, Ruchi Gautam, Ritika Srivastava, Avinash Chandel, Akhilesh Kumar, Subramanian Karthikeyan, Anand Kumar Bachhawat
Glutathione degradation plays an important role in glutathione and redox homeostasis and thus it is imperative to understand the enzymes and the mechanisms involved in glutathione degradation in detail. We describe here ChaC2, a member of the ChaC family of γ-glutamylcyclotransferases, as an enzyme that degrades glutathione in the cytosol of mammalian cells. ChaC2 is distinct from the previously described ChaC1, to which ChaC2 shows about 50% sequence identity. Human and mouse ChaC2 proteins, purified in vitro, show 10-20 fold lower catalytic efficiency than ChaC1, although they showed comparable Km values (Km of 3...
December 2, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27913465/aplastic-anemia-and-clonal-evolution-germ-line-and-somatic-genetics
#18
Akiko Shimamura
Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27912729/genomic-insights-from-whole-genome-sequencing-of-four-clonal-outbreak-campylobacter-jejuni-assessed-within-the-global-c-jejuni-population
#19
Clifford G Clark, Chrystal Berry, Matthew Walker, Aaron Petkau, Dillon O R Barker, Cai Guan, Aleisha Reimer, Eduardo N Taboada
BACKGROUND: Whole genome sequencing (WGS) is useful for determining clusters of human cases, investigating outbreaks, and defining the population genetics of bacteria. It also provides information about other aspects of bacterial biology, including classical typing results, virulence, and adaptive strategies of the organism. Cell culture invasion and protein expression patterns of four related multilocus sequence type 21 (ST21) C. jejuni isolates from a significant Canadian water-borne outbreak were previously associated with the presence of a CJIE1 prophage...
December 3, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27911848/global-analysis-of-genomic-instability-caused-by-dna-replication-stress-in-saccharomyces-cerevisiae
#20
Dao-Qiong Zheng, Ke Zhang, Xue-Chang Wu, Piotr A Mieczkowski, Thomas D Petes
DNA replication stress (DRS)-induced genomic instability is an important factor driving cancer development. To understand the mechanisms of DRS-associated genomic instability, we measured the rates of genomic alterations throughout the genome in a yeast strain with lowered expression of the replicative DNA polymerase δ. By a genetic test, we showed that most recombinogenic DNA lesions were introduced during S or G2 phase, presumably as a consequence of broken replication forks. We observed a high rate of chromosome loss, likely reflecting a reduced capacity of the low-polymerase strains to repair double-stranded DNA breaks (DSBs)...
November 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
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