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Functional genomics

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https://www.readbyqxmd.com/read/28102834/basis-of-catalytic-assembly-of-the-mitotic-checkpoint-complex
#1
Alex C Faesen, Maria Thanasoula, Stefano Maffini, Claudia Breit, Franziska Müller, Suzan van Gerwen, Tanja Bange, Andrea Musacchio
Accurate genome inheritance by daughter cells requires that sister chromatids in the mother attach to microtubules emanating from opposite poles of the mitotic spindle (bi-orientation). A surveillance mechanism named the spindle assembly checkpoint (SAC) monitors the microtubule attachment process, temporarily halting sister chromatid separation and mitotic exit until completion of bi-orientation1. SAC failure results in abnormal chromosome numbers (aneuploidy), a hallmark of many tumours. The HORMA domain protein MAD2 is a subunit of the SAC effector mitotic checkpoint complex (MCC)...
January 19, 2017: Nature
https://www.readbyqxmd.com/read/28102262/scaling-single-cell-genomics-from-phenomenology-to-mechanism
#2
Amos Tanay, Aviv Regev
Three of the most fundamental questions in biology are how individual cells differentiate to form tissues, how tissues function in a coordinated and flexible fashion and which gene regulatory mechanisms support these processes. Single-cell genomics is opening up new ways to tackle these questions by combining the comprehensive nature of genomics with the microscopic resolution that is required to describe complex multicellular systems. Initial single-cell genomic studies provided a remarkably rich phenomenology of heterogeneous cellular states, but transforming observational studies into models of dynamics and causal mechanisms in tissues poses fresh challenges and requires stronger integration of theoretical, computational and experimental frameworks...
January 18, 2017: Nature
https://www.readbyqxmd.com/read/28102151/pleiotropic-genetic-effects-influencing-sleep-and-neurological-disorders
#3
REVIEW
Olivia J Veatch, Brendan T Keenan, Philip R Gehrman, Beth A Malow, Allan I Pack
Research evidence increasingly points to the large impact of sleep disturbances on public health. Many aspects of sleep are heritable and genes influencing traits such as timing, EEG characteristics, sleep duration, and response to sleep loss have been identified. Notably, large-scale genome-wide analyses have implicated numerous genes with small effects on sleep timing. Additionally, there has been considerable progress in the identification of genes influencing risk for some neurological sleep disorders. For restless legs syndrome, implicated variants are typically in genes associated with neuronal development...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28102005/blind-prediction-of-deleterious-amino-acid-variations-with-snps-go
#4
Emidio Capriotti, Pier Luigi Martelli, Piero Fariselli, Rita Casadio
: SNPs&GO is a machine learning method for predicting the association of single amino acid variations (SAVs) to disease, considering protein functional annotation. The method is a binary classifier that implements a Support Vector Machine algorithm to discriminate between disease-related and neutral SAVs. SNPs&GO combines information from protein sequence with functional annotation encoded by Gene Ontology terms. Tested in sequence mode on more than 38,000 SAVs from the SwissVar dataset, our method reached 81% overall accuracy and an area under the receiving operating characteristic curve (AUC) of 0...
January 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28101908/recurrent-rearrangements-of-human-amylase-genes-create-multiple-independent-cnv-series
#5
Nzar A A Shwan, Sandra Louzada, Fengtang Yang, John A L Armour
The human amylase gene cluster includes the human salivary (AMY1) and pancreatic amylase genes (AMY2A and AMY2B), and is a highly variable and dynamic region of the genome. Copy number variation of AMY1 has been implicated in human dietary adaptation, and in population association with obesity, but neither of these findings has been independently replicated. Despite these functional implications, the structural genomic basis of copy number variation (CNV) has only been defined in detail very recently. In this work we use high-resolution analysis of copy number, and analysis of segregation in trios, to define new, independent allelic series of amylase CNVs in sub-Saharan Africans, including a series of higher-order expansions of a unit consisting of one copy each of AMY1, AMY2A and AMY2B...
January 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28101863/lessons-from-animal-models-of-cytoplasmic-intermediate-filament-proteins
#6
Jamal-Eddine Bouameur, Thomas M Magin
Cytoplasmic intermediate filaments (IFs) represent a major cytoskeletal network contributing to cell shape, adhesion and migration as well as to tissue resilience and renewal in numerous bilaterians, including mammals. The observation that IFs are dispensable in cultured mammalian cells, but cause tissue-specific, life-threatening disorders, has pushed the need to investigate their function in vivo. In keeping with human disease, the deletion or mutation of murine IF genes resulted in highly specific pathologies...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28101576/multiple-effects-of-ellagic-acid-on-human-colorectal-carcinoma-cells-identified-by-gene-expression-profile-analysis
#7
Jinlu Zhao, Guodong Li, Wanlan Bo, Yuhui Zhou, Shuwei Dang, Jiufeng Wei, Xinglong Li, Ming Liu
Colorectal carcinoma (CRC) is the third most commonly diagnosed cancer in the world. Phytochemicals have become a research hotspot in recent years as cancer prevention and treatment agents due to their low toxicity and limited side-effects. Ellagic acid (EA), a natural phenolic constituent, displays various biological activities, including anticancer effects. However, the detailed anticancer mechanisms of EA remain unclear. In the present study, we found that EA inhibited the growth of HCT-116 colon cancer cells...
February 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28101536/host-range-restriction-of-insect-specific-flaviviruses-occurs-at-several-levels-of-the-viral-life-cycle
#8
Sandra Junglen, Marvin Korries, Wolfgang Grasse, Janett Wieseler, Anne Kopp, Kyra Hermanns, Moises León-Juárez, Christian Drosten, Beate Mareike Kümmerer
The genus Flavivirus contains emerging arthropod-borne viruses (arboviruses) infecting vertebrates, as well as insect-specific viruses (ISVs) (i.e., viruses whose host range is restricted to insects). ISVs are evolutionary precursors to arboviruses. Knowledge of the nature of the ISV infection block in vertebrates could identify functions necessary for the expansion of the host range toward vertebrates. Mapping of host restrictions by complementation of ISV and arbovirus genome functions could generate knowledge critical to predicting arbovirus emergence...
January 2017: MSphere
https://www.readbyqxmd.com/read/28101207/structure-function-analysis-of-dna-helicase-helq-a-new-diagnostic-marker-in-ovarian-cancer
#9
Ya-Ping Li, Jun-Juan Yang, Hui Xu, En-Yu Guo, Yan Yu
It has been previously reported that a deficiency of the helicase, POLQ-like (HELQ) gene increases the risk of ovarian cancer. The present study aimed to explore the structure-function association of HELQ and discuss the effect of molecular structure on the occurrence of tumors. ExPASy tools were employed to analyze the physicochemical properties and secondary structure of the genes. PHYRE2 Protein Fold Recognition Server was used to construct the three-dimensional model and find the ligand-binding sites of HELQ...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28101186/comparative-analysis-of-signaling-pathways-in-peripheral-blood-from-patients-with-kashin-beck-disease-and-osteoarthritis
#10
Yujie Ning, Xi Wang, Sen Wang, Xiong Guo
The aim of the present study was to investigate the early diagnostic biomarkers of Kashin-Beck disease (KBD), and to compare the common signaling pathways of peripheral mononuclear cells between patients with KBD and those with osteoarthritis (OA). A total of 20 and 12 peripheral blood samples were separately collected from KBD patients and normal control subjects, respectively, in an endemic area according to the diagnosis criteria. Total RNAs were extracted and gene expression levels were determined using an Agilent whole genome expression microarrays...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101157/functional-analysis-of-keratinocyte-and-fibroblast-gene-expression-in-skin-and-keloid-scar-tissue-based-on-deviation-analysis-of-dynamic-capabilities
#11
Mingming Li, Lei Wu
The aim of the present study was to select key genes that are associated with fibroblasts and keratinocytes during keloid scar progression and development. The gene expression profile of GSE44270, which includes 32 samples, was downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) in case samples compared with control samples were screened using the Limma R package followed by hierarchical clustering analysis. Protein-protein interaction (PPI) networks of the total selected DEGs were constructed using Cytoscape...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100915/whole-exome-sequencing-study-reveals-common-copy-number-variants-in-protocadherin-genes-associated-with-childhood-obesity-in-koreans
#12
S Moon, M Y Hwang, H B Jang, S Han, Y J Kim, J-Y Hwang, H-J Lee, S I Park, J Song, B-J Kim
Recently, the prevalence of childhood obesity has significantly increased in industrialized countries, including Korea, and now controlling obesity is becoming an economic burden. However, knowledge of the risk factors associated with obesity is still limited. In this study, we aimed to discover additional obesity-associated loci in children. To achieve this, we conducted an exome-wide association analysis of copy number variation (CNV) using whole-exome sequencing (WES) data from a total of 102 cases and 86 controls...
January 19, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28100790/genome-wide-analysis-in-brazilians-reveals-highly-differentiated-native-american-genome-regions
#13
Josyf C Mychaleckyj, Alexandre Havt, Uma Nayak, Relana Pinkerton, Emily Farber, Patrick Concannon, Aldo A Lima, Richard L Guerrant
Despite its population, geographic size, and emerging economic importance, disproportionately little genome-scale research exists into genetic factors that predispose Brazilians to disease, or the population genetics of risk. After identification of suitable proxy populations and careful analysis of tri-continental admixture in 1,538 North-Eastern Brazilians to estimate individual ancestry and ancestral allele frequencies, we computed 400,000 genome-wide locus-specific branch length (LSBL) Fst statistics of Brazilian Amerindian ancestry compared to European and African; and a similar set of differentiation statistics for their Amerindian component compared to the closest Asian 1000 Genomes population (surprisingly, Bengalis in Bangladesh)...
January 18, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28100700/pbrowse-a-web-based-platform-for-real-time-collaborative-exploration-of-genomic-data
#14
Peter S Szot, Andrian Yang, Xin Wang, Chirag Parsania, Uwe Röhm, Koon Ho Wong, Joshua W K Ho
Genome browsers are widely used for individually exploring various types of genomic data. A handful of genome browsers offer limited tools for collaboration among multiple users. Here, we describe PBrowse, an integrated real-time collaborative genome browser that enables multiple users to simultaneously view and access genomic data, thereby harnessing the wisdom of the crowd. PBrowse is based on the Dalliance genome browser and has a re-designed user and data management system with novel collaborative functionalities, including real-time collaborative view, track comment and an integrated group chat feature...
January 18, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28100699/proteogenomics-produces-comprehensive-and-highly-accurate-protein-coding-gene-annotation-in-a-complete-genome-assembly-of-malassezia-sympodialis
#15
Yafeng Zhu, Pär G Engström, Christian Tellgren-Roth, Charles D Baudo, John C Kennell, Sheng Sun, R Blake Billmyre, Markus S Schröder, Anna Andersson, Tina Holm, Benjamin Sigurgeirsson, Guangxi Wu, Sundar Ram Sankaranarayanan, Rahul Siddharthan, Kaustuv Sanyal, Joakim Lundeberg, Björn Nystedt, Teun Boekhout, Thomas L Dawson, Joseph Heitman, Annika Scheynius, Janne Lehtiö
Complete and accurate genome assembly and annotation is a crucial foundation for comparative and functional genomics. Despite this, few complete eukaryotic genomes are available, and genome annotation remains a major challenge. Here, we present a complete genome assembly of the skin commensal yeast Malassezia sympodialis and demonstrate how proteogenomics can substantially improve gene annotation. Through long-read DNA sequencing, we obtained a gap-free genome assembly for M. sympodialis (ATCC 42132), comprising eight nuclear and one mitochondrial chromosome...
January 18, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28100665/co-option-of-bacteriophage-lysozyme-genes-by-bivalve-genomes
#16
Qian Ren, Chunyang Wang, Min Jin, Jiangfeng Lan, Ting Ye, Kaimin Hui, Jingmin Tan, Zheng Wang, Gerald J Wyckoff, Wen Wang, Guan-Zhu Han
Eukaryotes have occasionally acquired genetic material through horizontal gene transfer (HGT). However, little is known about the evolutionary and functional significance of such acquisitions. Lysozymes are ubiquitous enzymes that degrade bacterial cell walls. Here, we provide evidence that two subclasses of bivalves (Heterodonta and Palaeoheterodonta) acquired a lysozyme gene via HGT, building on earlier findings. Phylogenetic analyses place the bivalve lysozyme genes within the clade of bacteriophage lysozyme genes, indicating that the bivalves acquired the phage-type lysozyme genes from bacteriophages, either directly or through intermediate hosts...
January 2017: Open Biology
https://www.readbyqxmd.com/read/28100663/leveraging-genome-wide-datasets-to-quantify-the-functional-role-of-the-anti-shine-dalgarno-sequence-in-regulating-translation-efficiency
#17
Adam J Hockenberry, Adam R Pah, Michael C Jewett, Luís A N Amaral
Studies dating back to the 1970s established that sequence complementarity between the anti-Shine-Dalgarno (aSD) sequence on prokaryotic ribosomes and the 5' untranslated region of mRNAs helps to facilitate translation initiation. The optimal location of aSD sequence binding relative to the start codon, the full extents of the aSD sequence and the functional form of the relationship between aSD sequence complementarity and translation efficiency have not been fully resolved. Here, we investigate these relationships by leveraging the sequence diversity of endogenous genes and recently available genome-wide estimates of translation efficiency...
January 2017: Open Biology
https://www.readbyqxmd.com/read/28100647/marpodb-an-open-registry-for-marchantia-polymorpha-genetic-parts
#18
Mihails Delmans, Bernardo Pollak, Jim Haseloff
Marchantia polymorpha is an extant relative of the earliest terrestrial plants and has attracted a substantial interest as a model organism for evolutionary and developmental studies. Given its relatively simple genome, compact gene families, simple morphology, ease of propagation and transformation, M. polymorpha is becoming a promising platform for plant synthetic biology. Modular genetic parts have been essential for development of synthetic biology approaches, so we sought to design an engineering oriented database for M...
January 18, 2017: Plant & Cell Physiology
https://www.readbyqxmd.com/read/28100623/temperature-sensitive-lesion-in-the-n-terminal-domain-of-the-rotavirus-polymerase-affects-its-intracellular-localization-and-enzymatic-activity
#19
Allison O McKell, Leslie E W LaConte, Sarah M McDonald
: Temperature-sensitive (ts) mutants of simian rotavirus (RV) strain SA11 have been previously created to investigate the functions of viral proteins during replication. One mutant, SA11-tsC, maps to the gene encoding the VP1 polymerase and shows diminished growth and RNA synthesis at 39°C as compared to 31°C. In the current study, we sequenced all 11 genes of SA11-tsC, confirming the presence of an L138P mutation in the VP1 N-terminal domain and identifying 52 additional mutations in four other viral proteins (VP7, VP4, NSP2, and NSP1)...
January 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28100619/functional-analysis-of-hcv-envelope-protein-e1-using-a-trans-complementation-system-reveals-a-dual-role-of-a-putative-fusion-peptide-of-e1-in-both-hcv-entry-and-morphogenesis
#20
Yimin Tong, Xiaojing Chi, Wei Yang, Jin Zhong
: Hepatitis C virus (HCV) is an enveloped RNA virus belonging to the Flaviviridae family. It mainly infects human hepatocytes and causes chronic liver diseases including cirrhosis and cancer. HCV encodes two envelope proteins E1 and E2 that form a heterodimer and mediate virus entry. While E2 has been extensively studied, less has been done so for E1, and its role in HCV life cycle still needs to be elucidated. Here we developed a new cell culture model for HCV infection based on trans-complementation of E1...
January 18, 2017: Journal of Virology
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