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https://www.readbyqxmd.com/read/27915479/trends-in-next-generation-sequencing-and-a-new-era-for-whole-genome-sequencing
#1
REVIEW
Sang Tae Park, Jayoung Kim
This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915389/insertion-sequences-enrichment-in-extreme-red-sea-brine-pool-vent
#2
Ali H A Elbehery, Ramy K Aziz, Rania Siam
Mobile genetic elements are major agents of genome diversification and evolution. Limited studies addressed their characteristics, including abundance, and role in extreme habitats. One of the rare natural habitats exposed to multiple-extreme conditions, including high temperature, salinity and concentration of heavy metals, are the Red Sea brine pools. We assessed the abundance and distribution of different mobile genetic elements in four Red Sea brine pools including the world's largest known multiple-extreme deep-sea environment, the Red Sea Atlantis II Deep...
December 3, 2016: Extremophiles: Life Under Extreme Conditions
https://www.readbyqxmd.com/read/27915349/roles-of-1-25-oh-2d3-and-vitamin-d-receptor-in-the-pathogenesis-of-rheumatoid-arthritis-and-systemic-lupus-erythematosus-by-regulating-the-activation-of-cd4-t-cells-and-the-pkc%C3%AE-erk-signaling-pathway
#3
Xiao-Jie He, Yan Ding, Wei Xiang, Xi-Qiang Dang
BACKGROUND/AIMS: The study aims to elucidate the roles of 1,25(OH)2D3 and vitamin D receptor (VDR) in the pathogenesis of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) by regulating the activation of CD4+ T cells and the PKCδ/ERK signaling pathway. METHODS: From January 2013 to December 2015, a total of 130 SLE patients, 137 RA patients and 130 healthy controls were selected in this study. Serum levels of 1,25(OH)2D3 and VDR mRNA expression were detected by ELISA and real-time fluorescence quantitative PCR (RT-qPCR)...
December 5, 2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27915305/dna-barcoding-coupled-with-high-resolution-melting-analysis-enables-rapid-and-accurate-distinction-of-aspergillus-species
#4
Gabor Fidler, Sandor Kocsube, Eva Leiter, Sandor Biro, Melinda Paholcsek
We describe a high-resolution melting (HRM) analysis method that is rapid, reproducible, and able to identify reference strains and further 40 clinical isolates of Aspergillus fumigatus (14), A. lentulus (3), A. terreus (7), A. flavus (8), A. niger (2), A. welwitschiae (4), and A. tubingensis (2). Asp1 and Asp2 primer sets were designed to amplify partial sequences of the Aspergillus benA (beta-tubulin) genes in a closed-, single-tube system. Human placenta DNA, further Aspergillus (3), Candida (9), Fusarium (6), and Scedosporium (2) nucleic acids from type strains and clinical isolates were also included in this study to evaluate cross reactivity with other relevant pathogens causing invasive fungal infections...
December 3, 2016: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/27915290/localized-structural-frustration-for-evaluating-the-impact-of-sequence-variants
#5
Sushant Kumar, Declan Clarke, Mark Gerstein
Population-scale sequencing is increasingly uncovering large numbers of rare single-nucleotide variants (SNVs) in coding regions of the genome. The rarity of these variants makes it challenging to evaluate their deleteriousness with conventional phenotype-genotype associations. Protein structures provide a way of addressing this challenge. Previous efforts have focused on globally quantifying the impact of SNVs on protein stability. However, local perturbations may severely impact protein functionality without strongly disrupting global stability (e...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27915251/identification-of-a-campylobacter-coli-methyltransferase-targeting-adenines-at-gatc-sites
#6
Vikrant Dutta, Eric Altermann, Maria D Crespo, Jonathan W Olson, Robin M Siletzky, Sophia Kathariou
Campylobacter coli can infect humans and colonize multiple other animals but its host-associated genes or adaptations are poorly understood. Adenine methylation at GATC sites, resulting in MboI resistance of genomic DNA, was earlier frequently detected among C. coli from swine but not among turkey-derived isolates. The underlying genetic basis has remained unknown. Comparative genome sequence analyses of C. coli 6461, a swine-derived strain with MboI-resistant DNA, revealed two chromosomal ORFs, 0059 and 0060, encoding a putative DNA methyltransferase and a conserved hypothetical protein, respectively, which were lacking from the genome of the turkey-derived C...
December 2, 2016: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/27915247/genomic-diversity-of-bacteriophages-infecting-the-fish-pathogen-flavobacterium-psychrophilum
#7
Daniel Castillo, Mathias Middelboe
Bacteriophages infecting the fish pathogen Flavobacterium psychrophilum can potentially be used to prevent and control outbreaks of this bacterium in salmonid aquaculture. However, application of bacteriophages in disease control requires detailed knowledge on their genetic composition. To explore the diversity of F. pyschrophilum bacteriophages we have analyzed the complete genome sequences of 17 phages isolated from two distant geographic areas (Denmark and Chile), including the previously characterized temperate bacteriophage 6H...
December 2, 2016: FEMS Microbiology Letters
https://www.readbyqxmd.com/read/27915232/quantitative-profiling-of-selective-sox-pou-pairing-on-hundreds-of-sequences-in-parallel-by-coop-seq
#8
Yiming K Chang, Yogesh Srivastava, Caizhen Hu, Adam Joyce, Xiaoxiao Yang, Zheng Zuo, James J Havranek, Gary D Stormo, Ralf Jauch
Cooperative binding of transcription factors is known to be important in the regulation of gene expression programs conferring cellular identities. However, current methods to measure cooperativity parameters have been laborious and therefore limited to studying only a few sequence variants at a time. We developed Coop-seq (cooperativity by sequencing) that is capable of efficiently and accurately determining the cooperativity parameters for hundreds of different DNA sequences in a single experiment. We apply Coop-seq to 12 dimer pairs from the Sox and POU families of transcription factors using 324 unique sequences with changed half-site orientation, altered spacing and discrete randomization within the binding elements...
December 2, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27915212/rapid-detection-and-evolutionary-analysis-of-legionella-pneumophila-serogroup-1-sequence-type-47
#9
M Mentasti, P Cassier, S David, C Ginevra, L Gomez-Valero, A Underwood, B Afshar, J Etienne, J Parkhill, V Chalker, C Buchrieser, T G Harrison, S Jarraud
OBJECTIVES: Legionella pneumophia serogroup 1 (Lp1) sequence type 47 is the leading cause of legionellosis in North-Western Europe but surprisingly it is rarely isolated from environmental samples. Comparative genomics was applied to develop a PCR assay and to better understand the evolution of this strain. METHODS: Comparative analysis of 36 genomes representative of the Lp species was used to identify specific PCR targets which were then evaluated in silico on 545 sequenced genomes, and in vitro on 436 Legionella strains, 106 respiratory samples and three environmental samples from proven ST47 sources...
November 30, 2016: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/27915180/self-primed-isothermal-amplification-for-genomic-dna-detection-of-human-papillomavirus
#10
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/27915106/insights-gained-from-ancient-biomolecules-into-past-and-present-tuberculosis-a-personal-perspective
#11
REVIEW
Helen D Donoghue
Ancient and historical tuberculosis (TB) can be recognized by its typical paleopathology in human remains. Using paleomicrobiology, it is possible to detect many more individuals infected with TB but with no visible lesions. Due to advances in molecular analysis over the past two decades, it is clear that TB was widespread in humans from the Neolithic period until the present day. Past human populations were associated with different lineages of the Mycobacterium tuberculosis (MTB) complex, thereby elucidating early human migrations...
November 30, 2016: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/27915089/complete-mitochondrial-genome-of-parasitic-nematode-cylicocyclus-nassatus-and-comparative-analyses-with-cylicocyclus-insigne
#12
Yuan Gao, Jian-Hua Qiu, Bing-Bing Zhang, Xin Su, Xue Fu, Dong-Mei Yue, Chun-Ren Wang
Cylicocyclus nassatus is a common and important parasite in the large intestine of equine. In this study, the complete mitochondrial (mt) genome sequence of C. nassatus was determined and comparatively analysed with Cylicocyclus insigne. The mt genome size of C. nassatus was 13,846 bp, 18 bp longer than that of C. insigne. The circular mt genome includes 12 protein-coding genes, two rRNA genes, 22 tRNA genes and two non-coding regions. All the genes are transcribed in the same direction and gene arrangement is consistent with that of gene arrangement 3 (GA3)...
November 30, 2016: Experimental Parasitology
https://www.readbyqxmd.com/read/27915032/reelin-expression-is-up-regulated-in-mice-colon-in-response-to-acute-colitis-and-provides-resistance-against-colitis
#13
Ana E Carvajal, María D Vázquez-Carretero, Pablo García-Miranda, María J Peral, María L Calonge, Anunciación A Ilundain
Reelin is an extracellular matrix protein first known for its key role in neuronal migration. Studies in rodent small intestine suggested that reelin protects the organism from intestinal pathology. Here we determined in mice colon, by real time-PCR and immunological assays, the expression of the reelin signalling system; its response to dextran sulphate sodium (DSS) and the response of wild-type and reeler mice to DSS. DNA methylation was determined by bisulfite modification and sequencing of genomic DNA. In the colon mucosa reelin expression is restricted to the myofibroblasts, whereas both epithelial cells and myofibroblasts express reelin receptors (ApoER2 and VLDLR) and its effector protein Dab1...
November 30, 2016: Biochimica et Biophysica Acta
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/27914918/epigenetic-game-theory-how-to-compute-the-epigenetic-control-of-maternal-to-zygotic-transition
#15
REVIEW
Qian Wang, Kirk Gosik, Sujuan Xing, Libo Jiang, Lidan Sun, Vernon M Chinchilli, Rongling Wu
Epigenetic reprogramming is thought to play a critical role in maintaining the normal development of embryos. How the methylation state of paternal and maternal genomes regulates embryogenesis depends on the interaction and coordination of the gametes of two sexes. While there is abundant research in exploring the epigenetic interactions of sperms and oocytes, a knowledge gap exists in the mechanistic quantitation of these interactions and their impact on embryo development. This review aims at formulating a modeling framework to address this gap through the integration and synthesis of evolutionary game theory and the latest discoveries of the epigenetic control of embryo development by next-generation sequencing...
November 9, 2016: Physics of Life Reviews
https://www.readbyqxmd.com/read/27914716/replication-stalling-and-dna-microsatellite-instability
#16
M Leffak, R Gadgil, J Barthelemy, T Lewis
Microsatellites are short, tandemly repeated DNA motifs of 1-6 nucleotides, also termed simple sequence repeats (SRSs) or short tandem repeats (STRs). Collectively, these repeats comprise approximately 3% of the human genome Subramanian et al. (2003), Lander and Lander (2001) [1,2], and represent a large reservoir of loci highly prone to mutations Sun et al. (2012), Ellegren (2004) [3,4] that contribute to human evolution and disease. Microsatellites are known to stall and reverse replication forks in model systems Pelletier et al...
November 22, 2016: Biophysical Chemistry
https://www.readbyqxmd.com/read/27914629/cytoplasmic-fmr1-interacting-protein-2-is-a-major-genetic-factor-underlying-binge-eating
#17
Stacey L Kirkpatrick, Lisa R Goldberg, Neema Yazdani, R Keith Babbs, Jiayi Wu, Eric R Reed, David F Jenkins, Amanda F Bolgioni, Kelsey I Landaverde, Kimberly P Luttik, Karen S Mitchell, Vivek Kumar, W Evan Johnson, Megan K Mulligan, Pietro Cottone, Camron D Bryant
BACKGROUND: Eating disorders are lethal and heritable; however, the underlying genetic factors are unknown. Binge eating is a highly heritable trait associated with eating disorders that is comorbid with mood and substance use disorders. Therefore, understanding its genetic basis will inform therapeutic development that could improve several comorbid neuropsychiatric conditions. METHODS: We assessed binge eating in closely related C57BL/6 mouse substrains and in an F2 cross to identify quantitative trait loci associated with binge eating...
October 25, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27914481/conserved-3-utr-stem-loop-structure-in-l1-and-alu-transposons-in-human-genome-possible-role-in-retrotransposition
#18
Daria Grechishnikova, Maria Poptsova
BACKGROUND: In the process of retrotransposition LINEs use their own machinery for copying and inserting themselves into new genomic locations, while SINEs are parasitic and require the machinery of LINEs. The exact mechanism of how a LINE-encoded reverse transcriptase (RT) recognizes its own and SINE RNA remains unclear. However it was shown for the stringent-type LINEs that recognition of a stem-loop at the 3'UTR by RT is essential for retrotransposition. For the relaxed-type LINEs it is believed that the poly-A tail is a common recognition element between LINE and SINE RNA...
December 3, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27914282/fam3c-modulates-osteogenic-differentiation-by-down-regulating-runx2
#19
Ameya Bendre, Kalman G Büki, Jorma A Määttä
Fam3c, a cytokine-like protein, is a member of the Fam3 family (family with sequence similarity 3) and has been implicated to play a crucial role in Epithelial-to- mesenchymal transition (EMT) and subsequent metastasis during cancer progression. A few independent genome-wide association studies on different population cohorts predicted the gene locus of Fam3c to be associated with bone mineral density and fractures. In this study, we examined the role of Fam3c during osteoblast differentiation. Fam3c was found to be expressed during osteogenic differentiation of both primary bone marrow stromal cells and MC3T3-E1 pre-osteoblasts...
November 30, 2016: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/27914204/the-genetic-architecture-of-tristyly-and-its-breakdown-to-self-fertilization
#20
Ramesh Arunkumar, Wei Wang, Stephen I Wright, Spencer C H Barrett
The floral polymorphism tristyly involves three style morphs with a reciprocal arrangement of stigma and anther heights governed by two diallelic loci (S and M). Tristyly functions to promote cross-pollination, but modifications to stamen position commonly cause transitions to selfing. Here, we integrate whole genome sequencing and genetic mapping to investigate the genetic architecture of the M locus and the genetic basis of independent transitions to selfing in tristylous Eichhornia paniculata. We crossed independently derived semi-homostylous selfing variants of the long- and mid-styled morph fixed for alternate alleles at the M locus (ssmm and ssMM, respectively) and backcrossed the F1 to the parental ssmm genotype...
December 3, 2016: Molecular Ecology
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