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https://www.readbyqxmd.com/read/29334678/genome-evolution-analysis-of-recurrent-testicular-malignant-mesothelioma-by-whole-genome-sequencing
#1
Shigeng Zhang, Qi Zhang, Qing Sun, Jinlong Tang, Jimin Chen, Na Ji, Yichun Zheng, Francia Fang, Wanjun Lei, Pengpeng Li, Nan Zhang
BACKGROUND/AIMS: Malignant mesothelioma of the tunica vaginalis testis is a rare and lethal disease. The genomic characteristics and genetic changes of tumor cells during the progression of this disease are unknown. METHODS: we performed whole-genome sequencing of four successive tumor samples derived from surgery and a blood sample in a single patient. RESULTS: All tumors were found to have significant C-to-T and T-to-C mutations, and amplification of copy number in chromosomes 1 and 12 were notified in all tumor samples...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29334603/multicenter-phase-ii-study-of-oxaliplatin-irinotecan-and-s-1-as-first-line-treatment-for-patients-with-recurrent-or-metastatic-biliary-tract-cancer
#2
Changhoon Yoo, Boram Han, Hyeong Su Kim, Kyu-Pyo Kim, Deokhoon Kim, Jae Ho Jeong, Jae-Lyun Lee, Tae Won Kim, Jung Han Kim, Dae Ro Choi, Hong Il Ha, Jinwon Seo, Heung-Moon Chang, Baek-Yeol Ryoo, Dae Young Zang
Purpose: Although gemcitabine plus cisplatin has been established as the standard first-line chemotherapy for patients with advanced biliary tract cancer (BTC), overall prognosis remains poor. We investigated the efficacy of a novel triplet combination of oxaliplatin, irinotecan, and S-1 (OIS) for advanced BTC. Materials and Methods: Chemotherapy-naive patients with histologically documented unresectable or metastatic BTC were eligible for this multicenter, single-arm phase II study...
January 8, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29334417/combining-allele-frequency-and-tree-based-approaches-improves-phylogeographic-inference-from-natural-history-collections
#3
M Ruffley, M L Smith, A Espíndola, B C Carstens, J Sullivan, D C Tank
Model selection approaches in phylogeography have allowed researchers to evaluate the support for competing demographic histories, which provides a mode of inference and a measure of uncertainty in understanding climatic and spatial influences on intraspecific diversity. Here, to rank all models in the comparison set, and determine what proportion of the total support the top-ranked model garners, we conduct model selection using two analytical approaches -allele frequency-based, implemented in fastsimcoal2, and gene tree-based, implemented in PHRAPL...
January 15, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29334416/investigating-causal-associations-between-use-of-nicotine-alcohol-caffeine-and-cannabis-a-two-sample-bidirectional-mendelian-randomization-study
#4
Karin J H Verweij, Jorien L Treur, Jacqueline M Vink
BACKGROUND AND AIMS: Epidemiological studies consistently show co-occurrence of use of different addictive substances. Whether these associations are causal or due to overlapping underlying influences remains an important question in addiction research. Methodological advances have made it possible to use published genetic associations to infer causal relationships between phenotypes. In this exploratory study, we used Mendelian randomization (MR) to examine the causality of well-established associations between nicotine, alcohol, caffeine, and cannabis use...
January 15, 2018: Addiction
https://www.readbyqxmd.com/read/29334409/climate-driven-mitochondrial-selection-a-test-in-australian-songbirds
#5
Annika Mae Lamb, Han Ming Gan, Chris Greening, Leo Joseph, Yin Peng Lee, Alejandra Morán-Ordóñez, Paul Sunnucks, Alexandra Pavlova
Diversifying selection between populations that inhabit different environments can promote lineage divergence within species and ultimately drive speciation. The mitochondrial genome (mitogenome) encodes essential proteins of the oxidative phosphorylation (OXPHOS) system and can be a strong target for climate-driven selection (i.e. associated with inhabiting different climates). We investigated whether Pleistocene climate changes drove mitochondrial selection and evolution within Australian birds. First, using phylogeographic analyses of the mitochondrial ND2 gene for 17 songbird species, we identified mitochondrial clades (mitolineages)...
January 15, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29334377/detecting-hierarchical-genome-folding-with-network-modularity
#6
Heidi K Norton, Daniel J Emerson, Harvey Huang, Jesi Kim, Katelyn R Titus, Shi Gu, Danielle S Bassett, Jennifer E Phillips-Cremins
Mammalian genomes are folded in a hierarchy of compartments, topologically associating domains (TADs), subTADs and looping interactions. Here, we describe 3DNetMod, a graph theory-based method for sensitive and accurate detection of chromatin domains across length scales in Hi-C data. We identify nested, partially overlapping TADs and subTADs genome wide by optimizing network modularity and varying a single resolution parameter. 3DNetMod can be applied broadly to understand genome reconfiguration in development and disease...
January 15, 2018: Nature Methods
https://www.readbyqxmd.com/read/29334376/positively-selected-enhancer-elements-endow-osteosarcoma-cells-with-metastatic-competence
#7
James J Morrow, Ian Bayles, Alister P W Funnell, Tyler E Miller, Alina Saiakhova, Michael M Lizardo, Cynthia F Bartels, Maaike Y Kapteijn, Stevephen Hung, Arnulfo Mendoza, Gursimran Dhillon, Daniel R Chee, Jay T Myers, Frederick Allen, Marco Gambarotti, Alberto Righi, Analisa DiFeo, Brian P Rubin, Alex Y Huang, Paul S Meltzer, Lee J Helman, Piero Picci, Henri Versteeg, John Stamatoyannopolus, Chand Khanna, Peter C Scacheri
Metastasis results from a complex set of traits acquired by tumor cells, distinct from those necessary for tumorigenesis. Here, we investigate the contribution of enhancer elements to the metastatic phenotype of osteosarcoma. Through epigenomic profiling, we identify substantial differences in enhancer activity between primary and metastatic human tumors and between near isogenic pairs of highly lung metastatic and nonmetastatic osteosarcoma cell lines. We term these regions metastatic variant enhancer loci (Met-VELs)...
January 15, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29334364/compactness-of-viral-genomes-effect-of-disperse-and-localized-random-mutations
#8
Anže Lošdorfer Božič, Cristian Micheletti, Rudolf Podgornik, Luca Tubiana
Genomes of single-stranded RNA viruses have evolved to optimize several concurrent properties. One of them is the architecture of their genomic folds, which must not only feature precise structural elements at specific positions, but also allow for overall spatial compactness. The latter was shown to be disrupted by random synonymous mutations, a disruption which can consequently negatively affect genome encapsidation. In this study, we use three mutation schemes with different degrees of locality to mutate the genomes of phage MS2 and Brome Mosaic Virus in order to understand the observed sensitivity of the global compactness of their folds...
January 15, 2018: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/29334356/p53-suppresses-mutagenic-rad52-and-pol%C3%AE-pathways-by-orchestrating-dna-replication-restart-homeostasis
#9
Sunetra Roy, Karl-Heinz Tomaszowski, Jessica W Luzwick, Soyoung Park, Jun Li, Maureen Murphy, Katharina Schlacher
Classically, p53 tumor suppressor acts in transcription, apoptosis, and cell cycle arrest. Yet, replication-mediated genomic instability is integral to oncogenesis, and p53 mutations promote tumor progression and drug-resistance. By delineating human and murine separation-of-function p53 alleles, we find that p53 null and gain-of-function (GOF) mutations exhibit defects in restart of stalled or damaged DNA replication forks driving genomic instability genetically separable from transcription activation. By assaying protein-DNA fork interactions in single cells, we unveil a p53-MLL3-enabled recruitment of MRE11 DNA replication restart nuclease...
January 15, 2018: ELife
https://www.readbyqxmd.com/read/29334348/assessing-the-readiness-of-precision-medicine-interoperabilty-an-exploratory-study-of-the-national-institutes-of-health-genetic-testing-registry
#10
Jay G Ronquillo, Chunhua Weng, William T Lester
BACKGROUND:   Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. OBJECTIVE:   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats...
November 17, 2017: Journal of Innovation in Health Informatics
https://www.readbyqxmd.com/read/29334346/in-this-issue-prerequisites-for-precision-medicine-are-genomics-computerised-medical-record-systems-and-big-data-analytics
#11
Simon De Lusignan
No abstract text is available yet for this article.
January 12, 2018: Journal of Innovation in Health Informatics
https://www.readbyqxmd.com/read/29334253/circular-rna-expression-in-extracellular-vesicles-isolated-from-serum-of-patients-with-endometrial-cancer
#12
Hanzi Xu, Zhen Gong, Yang Shen, Yichen Fang, Shanliang Zhong
AIM: We aimed to explore the roles of circular RNAs (circRNAs) in extracellular vesicles (EVs) isolated from serum of patients with endometrial cancer. MATERIALS & METHODS: EVs were isolated from serum samples of three patients with stage III adenocarcinoma aged 50-60 years and three matched healthy controls. RNA was extracted from the EVs and analyzed using RNA-seq technique. RESULTS: We got 209 upregulated circRNAs and 66 downregulated circRNAs...
January 15, 2018: Epigenomics
https://www.readbyqxmd.com/read/29334241/transcriptional-regulation-on-the-gene-expression-signature-in-combined-allergic-rhinitis-and-asthma-syndrome
#13
Zhengdao Mao, Yujia Shi, Qi Cao, Yi Chen, Yun Sun, Zhiguang Liu, Qian Zhang, Mao Huang
AIM: This study was intended to evaluate transcriptional regulation of gene expression signatures in combined allergic rhinitis and asthma syndrome (CARAS). MATERIALS & METHODS: The blood samples of three patients with CARAS, three patients with allergic rhinitis and three normal controls were obtained. The cuffdiff, miRDeep2 and DEGseq were used to quantify the expression of genes and miRNAs, respectively. And p-value < 0.01 and false discovery rate < 0...
January 15, 2018: Epigenomics
https://www.readbyqxmd.com/read/29334207/screening-for-causative-mutations-of-major-prolificacy-genes-in-iranian-fat-tailed-sheep
#14
Ramin Abdoli, Seyed Ziaeddin Mirhoseini, Navid Ghavi Hossein-Zadeh, Pouya Zamani
Background: The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study aims to investigate BMPR1B, BMP15 and GDF9 gene mutations in prolific ewes of Iranian fat-tailed Lori-Bakhtiari sheep. MATERIALS AND METHODS: In the present experimental study, genomic DNA was extracted from whole blood of 10 prolific Lori-Bakhtiari ewes with at least two twinning records in the first four parities to identify point mutations of the BMPR1B, BMP15 and GDF9 genes, using DNA sequencing...
April 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29333696/the-plantain-proteome-a-focus-on-allele-specific-proteins-obtained-from-plantain-fruits
#15
Nádia A Campos, Rony Swennen, Sebastien C Carpentier
Proteomics has been applied with great potential to elucidate molecular mechanisms in plants. This is especially valid in the case of non-model crops of which their genome has not been sequenced yet, or is not well annotated. Plantains are a kind of cooking bananas that are economically very important in Africa, India and Latin America. The aim of this work was to characterize the fruit proteome of common dessert bananas and plantains and to identify proteins that are only encoded by the plantain genome. We present the first plantain fruit proteome...
January 15, 2018: Proteomics
https://www.readbyqxmd.com/read/29333681/myotropic-activity-and-immuno-localization-of-selected-neuropeptides-of-the-burying-beetle-nicrophorus-vespilloides-coleoptera-silphidae
#16
Arkadiusz Urbański, Jan Lubawy, Paweł Marciniak, Grzegorz Rosiński
Burying beetles (Nicrophorus sp.) are necrophagous insects with developed parental care. Genome of Nicrophorus vespilloides has been recently sequenced, which makes them interesting model organism in behavioural ecology. However, we know very little about their physiology, including the functioning of their neuro-endocrine system. In this study, one of the physiological activities of proctolin, myosuppressin (Nicve-MS), myoinhibitory peptide (Trica-MIP-5) and the short neuropeptide F (Nicve-sNPF) in N. vespilloides have been investigated...
January 15, 2018: Insect Science
https://www.readbyqxmd.com/read/29333609/runs-of-homozygosity-reveal-genome-wide-autozygosity-in-italian-sheep-breeds
#17
S Mastrangelo, E Ciani, M T Sardina, G Sottile, F Pilla, B Portolano
The availability of dense single nucleotide polymorphism (SNP) assays allows for the determination of autozygous segments based on runs of consecutive homozygous genotypes (ROH). The aim of the present study was to investigate the occurrence and distribution of ROH in 21 Italian sheep breeds using medium-density SNP genotypes in order to characterize autozygosity and identify genomic regions that frequently appeared in ROH within individuals, namely ROH islands. After filtering, the final number of animals and SNPs retained for analyses were 502 and 46 277 respectively...
January 15, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29333606/genetic-relationships-among-vietnamese-local-pigs-investigated-using-genome-wide-snp-markers
#18
S Ishihara, A Arakawa, M Taniguchi, Q M Luu, D L Pham, B V Nguyen, S Mikawa, K Kikuchi
Vietnam is one of the most important countries for pig domestication, and a total of 26 local breeds have been reported. In the present study, genetic relationships among the various pig breeds were investigated using 90 samples collected from local pigs (15 breeds) in 15 distantly separated, distinct areas of the country and six samples from Landrace pigs in Hanoi as an out-group of a common Western breed. All samples were genotyped using the Illumina Porcine SNP60 v2 Genotyping BeadChip. We used 15 160-15 217 SNPs that showed a high degree of polymorphism in the Vietnamese breeds for identifying genetic relationships among the Vietnamese breeds...
January 15, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29333597/tp53-polymorphism-in-plasma-cell-myeloma
#19
Szymon Andrzej Zmorzynski, Iwona Korszen-Pilecka, Magdalena Wojcierowska-Litwin, Barbara Kwiatkowska-Drabik, Malgorzata Luterek, Sylwia Chocholska, Dorota Koczkodaj, Sylwia Popek, Malgorzata Michalak-Wojnowska, Grazyna Swiderska-Kolacz, Joanna Januszewska, Iwona Surowiec, Waldemar Tomczak, Marek Hus, Anna Dmoszynska, Marcin Pasiarski, Katarzyna Poniewierska-Jasak, Katarzyna Cieplinska, Olga Jankowska-Lecka, Agata Anna Filip
INTRODUCTION: Significant and accessible predictive factors for bortezomib treatment in plasma cell myeloma (PCM) are still lacking. TP53 codon 72 polymorphism (P72R) results in proline (P) or arginine (R) at 72 amino acid position, which causes synthesis of proteins with distinct functions. The aims of our study were to: 1) analyze whether this polymorphism is associated with an increased risk of PCM; 2) study whether the P72R polymorphism affects overall survival (OS) among PCM patients; 3) assess the possible association of the P72R polymorphism with sensitivity to bortezomib in cell cultures derived from PCM patients...
January 15, 2018: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/29333587/genetic-characterization-and-modification-of-a-bioethanol-producing-yeast-strain
#20
Ke Zhang, Ya-Nan Di, Lei Qi, Yang Sui, Ting-Yu Wang, Li Fan, Zhen-Mei Lv, Xue-Chang Wu, Pin-Mei Wang, Dao-Qiong Zheng
Yeast Saccharomyces cerevisiae strains isolated from different sources generally show extensive genetic and phenotypic diversity. Understanding how genomic variations influence phenotypes is important for developing strategies with improved economic traits. The diploid S. cerevisiae strain NY1308 is used for cellulosic bioethanol production. Whole genome sequencing identified an extensive amount of single nucleotide variations and small insertions/deletions in the genome of NY1308 compared with the S288c genome...
January 15, 2018: Applied Microbiology and Biotechnology
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