Complete Elucidation of a Minimal Class I MHC Natural Killer Cell Receptor Haplotype
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Expression of a Mouse Long Terminal Repeat Is Cell Cycle-Linked (Friend Cells/Gene Expression/Retroviruses/Transformation/Onc Genes) LEONARD H
Proc. Natl. Acad. Sci. USA Vol. 82, pp. 1946-1949, April 1985 Biochemistry Expression of a mouse long terminal repeat is cell cycle-linked (Friend cells/gene expression/retroviruses/transformation/onc genes) LEONARD H. AUGENLICHT AND HEIDI HALSEY Department of Oncology, Montefiore Medical Center, and Department of Medicine, Albert Einstein College of Medicine, 111 East 210th St., Bronx, NY 10467 Communicated by Harry Eagle, November 26, 1984 ABSTRACT The expression of the long terminal repeat have regions of homology with a Syrian hamster repetitive (LTR) of intracisternal A particle retroviral sequences which sequence whose expression is also linked to the G, phase of are endogenous to the mouse genome has been shown to be the cell cycle (28). linked to the early G6 phase of the cell cycle in Friend erythroleukemia cells synchronized by density arrest and also MATERIALS AND METHODS in logarithmically growing cells fractionated into cell-cycle Cells. Friend erythroleukemia cells, strain DS-19, were compartments by centrifugal elutriation. Regions of homology grown in minimal essential medium containing 10% fetal calf were found in comparing the LTR sequence to a repetitive serum (28). Cell number was determined by counting an Syrian hamster sequence specifically expressed in early G1 in aliquot in an automated particle counter (Coulter Electron- hamster cells. ics). The cells were fractionated into cell-cycle compart- ments by centrifugal elutriation with a Beckman elutriator The long terminal repeats (LTR) of retroviral genomes rotor as described (29). For analysis of DNA content per contain sequence elements that regulate the transcription of cell, the cells were stained with either 4',6-diamidino-2- the viral genes (1). -
RESEARCH ARTICLES Gene Cluster Statistics with Gene Families
RESEARCH ARTICLES Gene Cluster Statistics with Gene Families Narayanan Raghupathy*1 and Dannie Durand* *Department of Biological Sciences, Carnegie Mellon University, Pittsburgh, PA; and Department of Computer Science, Carnegie Mellon University, Pittsburgh, PA Identifying genomic regions that descended from a common ancestor is important for understanding the function and evolution of genomes. In distantly related genomes, clusters of homologous gene pairs are evidence of candidate homologous regions. Demonstrating the statistical significance of such ‘‘gene clusters’’ is an essential component of comparative genomic analyses. However, currently there are no practical statistical tests for gene clusters that model the influence of the number of homologs in each gene family on cluster significance. In this work, we demonstrate empirically that failure to incorporate gene family size in gene cluster statistics results in overestimation of significance, leading to incorrect conclusions. We further present novel analytical methods for estimating gene cluster significance that take gene family size into account. Our methods do not require complete genome data and are suitable for testing individual clusters found in local regions, such as contigs in an unfinished assembly. We consider pairs of regions drawn from the same genome (paralogous clusters), as well as regions drawn from two different genomes (orthologous clusters). Determining cluster significance under general models of gene family size is computationally intractable. By assuming that all gene families are of equal size, we obtain analytical expressions that allow fast approximation of cluster probabilities. We evaluate the accuracy of this approximation by comparing the resulting gene cluster probabilities with cluster probabilities obtained by simulating a realistic, power-law distributed model of gene family size, with parameters inferred from genomic data. -
Gene-Pseudogene Evolution
Mahmudi et al. BMC Genomics 2015, 16(Suppl 10):S12 http://www.biomedcentral.com/1471-2164/16/S10/S12 RESEARCH Open Access Gene-pseudogene evolution: a probabilistic approach Owais Mahmudi1*, Bengt Sennblad2, Lars Arvestad3, Katja Nowick4, Jens Lagergren1* From 13th Annual Research in Computational Molecular Biology (RECOMB) Satellite Workshop on Comparative Genomics Frankfurt, Germany. 4-7 October 2015 Abstract Over the last decade, methods have been developed for the reconstruction of gene trees that take into account the species tree. Many of these methods have been based on the probabilistic duplication-loss model, which describes how a gene-tree evolves over a species-tree with respect to duplication and losses, as well as extension of this model, e.g., the DLRS (Duplication, Loss, Rate and Sequence evolution) model that also includes sequence evolution under relaxed molecular clock. A disjoint, almost as recent, and very important line of research has been focused on non protein-coding, but yet, functional DNA. For instance, DNA sequences being pseudogenes in the sense that they are not translated, may still be transcribed and the thereby produced RNA may be functional. We extend the DLRS model by including pseudogenization events and devise an MCMC framework for analyzing extended gene families consisting of genes and pseudogenes with respect to this model, i.e., reconstructing gene- trees and identifying pseudogenization events in the reconstructed gene-trees. By applying the MCMC framework to biologically realistic synthetic data, we show that gene-trees as well as pseudogenization points can be inferred well. We also apply our MCMC framework to extended gene families belonging to the Olfactory Receptor and Zinc Finger superfamilies. -
Single Nucleotide Polymorphism (SNP)
Aquaculture Genome Technologies Zhanjiang (John) Liu Copyright © 2007 by Blackwell Publishing Chapter 6 Single Nucleotide Polymorphism (SNP) Zhanjiang Liu Single nucleotide polymorphism (SNP) describes polymorphisms caused by point mutations that give rise to different alleles containing alternative bases at a given nucleotide position within a locus. Such sequence differences due to base substitu- tions have been well characterized since the beginning of DNA sequencing in 1977, but the ability to genotype SNPs rapidly in large numbers of samples was not possible until several major technological advances in the late 1990s. With the development of the TaqMan technology, gene chip technology, pyrosequencing, and MALDI-TOF, which is matrix-assisted laser desorption ionization-time of flight mass spectrometry (Haff et al. 1997, Tost et al. 2005), SNPs are again becoming a focal point in molecular marker development because they are the most abundant polymorphism in any organ- ism (as shown in Table 6.1), adaptable to automation, and reveal hidden polymor- phism not detected with other markers and methods. SNP markers are regarded by many as the projected markers of choice for the future. In this chapter, I will summa- rize methods for SNP discovery, review the traditional approaches for SNP genotyp- ing and their principles, present several major platforms for SNP genotyping using recently developed technologies, and discuss the pros and cons of SNP markers for aquaculture genome research. What Are SNP Markers and Why Are They the Future Markers of Choice? SNP can be defined as base variation at any site of the genome among individuals, or an alternative base at a given DNA site (Figure 6.1). -
Genetic, Epidemiological and Biological Analysis of Interleukin-10
Genes and Immunity (2009) 10, 174–180 & 2009 Macmillan Publishers Limited All rights reserved 1466-4879/09 $32.00 www.nature.com/gene ORIGINAL ARTICLE Genetic, epidemiological and biological analysis of interleukin-10 promoter single-nucleotide polymorphisms suggests a definitive role for À819C/T in leprosy susceptibility AC Pereira1,5, VN Brito-de-Souza1,5, CC Cardoso2, IMF Dias-Baptista1, FPC Parelli1,3, J Venturini1,3, FR Villani-Moreno1, AG Pacheco4 and MO Moraes2 1Instituto Lauro de Souza Lima, Bauru, Sa˜o Paulo, Brazil; 2Laborato´rio de Hansenı´ase, Departamento de Micobacterioses, Instituto Oswaldo Cruz, Rio de Janeiro, Brazil; 3Tropical Diseases Area, Botucatu Medical School, Sao Paulo State University, UNESP, Botucatu, Sa˜o Paulo, Brazil and 4Departamento de Epidemiologia e Me´todos Quantitativos em Sau´de (DEMQS), Escola Nacional de Sau´de Pu´blica (ENSP)/PROCC, FIOCRUZ, Rio de Janeiro, Brazil Leprosy is a complex infectious disease influenced by genetic and environmental factors. The genetic contributing factors are considered heterogeneous and several genes have been consistently associated with susceptibility like PARK2, tumor necrosis factor (TNF), lymphotoxin-a (LTA) and vitamin-D receptor (VDR). Here, we combined a case–control study (374 patients and 380 controls), with meta-analysis (5 studies; 2702 individuals) and biological study to test the epidemiological and physiological relevance of the interleukin-10 (IL-10) genetic markers in leprosy. We observed that the À819T allele is associated with leprosy susceptibility either in the case–control or in the meta-analysis studies. Haplotypes combining promoter single-nucleotide polymorphisms also implicated a haplotype carrying the À819T allele in leprosy susceptibility (odds ratio (OR) ¼ 1.40; P ¼ 0.01). -
Gene Family Amplification Facilitates Adaptation in Freshwater Unionid
Gene family amplification facilitates adaptation in freshwater unionid bivalve Megalonaias nervosa Rebekah L. Rogers1∗, Stephanie L. Grizzard1;2, James E. Titus-McQuillan1, Katherine Bockrath3;4 Sagar Patel1;5;6, John P. Wares3;7, Jeffrey T Garner8, Cathy C. Moore1 Author Affiliations: 1. Department of Bioinformatics and Genomics, University of North Carolina, Charlotte, NC 2. Department of Biological Sciences, Old Dominion University, Norfolk, VA 3. Department of Genetics, University of Georgia, Athens, GA 4. U.S. Fish and Wildlife Service, Midwest Fisheries Center Whitney Genetics Lab, Onalaska, WI 5. Department of Biology, Saint Louis University, St. Louis, MO 6. Donald Danforth Plant Science Center, St. Louis, MO 7. Odum School of Ecology, University of Georgia, Athens, GA 8. Division of Wildlife and Freshwater Fisheries, Alabama Department of Conservation and Natural Resources, Florence, AL *Corresponding author: Department of Bioinformatics and Genomics, University of North Carolina, Charlotte, NC. [email protected] Keywords: Unionidae, M. nervosa, Evolutionary genomics, gene family expansion, arXiv:2008.00131v2 [q-bio.GN] 16 Nov 2020 transposable element evolution, Cytochrome P450, Population genomics, reverse ecological genetics Short Title: Gene family expansion in Megalonaias nervosa 1 Abstract Freshwater unionid bivalves currently face severe anthropogenic challenges. Over 70% of species in the United States are threatened, endangered or extinct due to pollution, damming of waterways, and overfishing. These species are notable for their unusual life history strategy, parasite-host coevolution, and biparental mitochondria inheritance. Among this clade, the washboard mussel Megalonaias nervosa is one species that remains prevalent across the Southeastern United States, with robust population sizes. We have created a reference genome for M. -
CRISPR/Cas9-Mediated Genome Editing Efficiently Creates Specific
www.nature.com/scientificreports Correction: Author Correction OPEN CRISPR/Cas9-mediated genome editing efciently creates specifc mutations at multiple loci using one Received: 18 April 2017 Accepted: 3 July 2017 sgRNA in Brassica napus Published: xx xx xxxx Hong Yang1, Jia-Jing Wu1, Ting Tang1, Ke-De Liu 2 & Cheng Dai1 CRISPR/Cas9 is a valuable tool for both basic and applied research that has been widely applied to diferent plant species. Nonetheless, a systematical assessment of the efciency of this method is not available for the allotetraploid Brassica napus—an important oilseed crop. In this study, we examined the mutation efciency of the CRISPR/Cas9 method for 12 genes and also determined the pattern, specifcity and heritability of these gene modifcations in B. napus. The average mutation frequency for a single-gene targeted sgRNA in the T0 generation is 65.3%. For paralogous genes located in conserved regions that were targeted by sgRNAs, we observed mutation frequencies that ranged from 27.6% to 96.6%. Homozygotes were readily found in T0 plants. A total of 48.2% of the gene mutations, including homozygotes, bi-alleles, and heterozygotes were stably inherited as classic Mendelian alleles in the next generation (T1) without any new mutations or reversions. Moreover, no mutation was found in the putative of-target sites among the examined T0 plants. Collectively, our results demonstrate that CRISPR/Cas9 is an efcient tool for creating targeted genome modifcations at multiple loci that are stable and inheritable in B. napus. These fndings open many doors for biotechnological applications in oilseed crops. -
Autoimmune Encephalomyelitis by NK In
In Vivo Regulation of Experimental Autoimmune Encephalomyelitis by NK Cells: Alteration of Primary Adaptive Responses This information is current as Robin Winkler-Pickett, Howard A. Young, James M. of September 27, 2021. Cherry, John Diehl, John Wine, Timothy Back, William E. Bere, Anna T. Mason and John R. Ortaldo J Immunol 2008; 180:4495-4506; ; doi: 10.4049/jimmunol.180.7.4495 http://www.jimmunol.org/content/180/7/4495 Downloaded from References This article cites 70 articles, 28 of which you can access for free at: http://www.jimmunol.org/content/180/7/4495.full#ref-list-1 http://www.jimmunol.org/ Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication by guest on September 27, 2021 *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2008 by The American Association of Immunologists All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology In Vivo Regulation of Experimental Autoimmune Encephalomyelitis by NK Cells: Alteration of Primary Adaptive Responses1,2 Robin Winkler-Pickett,* Howard A. Young,3* James M. -
Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases
Journal of Clinical Medicine Review Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases Anna Wajda 1 , Larysa Sivitskaya 2,* and Agnieszka Paradowska-Gorycka 1 1 Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland; [email protected] (A.W.); [email protected] (A.P.-G.) 2 Institute of Genetics and Cytology, National Academy of Sciences of Belarus, 220072 Minsk, Belarus * Correspondence: [email protected] Abstract: NGS technologies have transformed clinical diagnostics and broadly used from neonatal emergencies to adult conditions where the diagnosis cannot be made based on clinical symptoms. Autoimmune diseases reveal complicate molecular background and traditional methods could not fully capture them. Certainly, NGS technologies meet the needs of modern exploratory research, diagnostic and pharmacotherapy. Therefore, the main purpose of this review was to briefly present the application of NGS technology used in recent years in the understanding of autoimmune diseases paying particular attention to autoimmune connective tissue diseases. The main issues are presented in four parts: (a) panels, whole-genome and -exome sequencing (WGS and WES) in diagnostic, (b) Human leukocyte antigens (HLA) as a diagnostic tool, (c) RNAseq, (d) microRNA and (f) microbiome. Although all these areas of research are extensive, it seems that epigenetic impact on the development of systemic autoimmune diseases will set trends for future studies on this area. Citation: Wajda, A.; Sivitskaya, L.; Keywords: next-generation sequencing; autoimmune diseases; autoimmune connective tissue dis- Paradowska-Gorycka, A. Application eases; HLA; microRNA; microbiome of NGS Technology in Understanding the Pathology of Autoimmune Diseases. J. Clin. -
Genome Organization/ Human
Genome Organization/ Secondary article Human Article Contents . Introduction David H Kass, Eastern Michigan University, Ypsilanti, Michigan, USA . Sequence Complexity Mark A Batzer, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA . Single-copy Sequences . Repetitive Sequences . The human nuclear genome is a highly complex arrangement of two sets of 23 Macrosatellites, Minisatellites and Microsatellites . chromosomes, or DNA molecules. There are various types of DNA sequences and Gene Families . chromosomal arrangements, including single-copy protein-encoding genes, repetitive Gene Superfamilies . sequences and spacer DNA. Transposable Elements . Pseudogenes . Mitochondrial Genome Introduction . Genome Evolution . Acknowledgements The human nuclear genome contains 3000 million base pairs (bp) of DNA, of which only an estimated 3% possess protein-encoding sequences. As shown in Figure 1, the DNA sequences of the eukaryotic genome can be classified sequences such as the ribosomal RNA genes. Repetitive into several types, including single-copy protein-encoding sequences with no known function include the various genes, DNA that is present in more than one copy highly repeated satellite families, and the dispersed, (repetitive sequences) and intergenic (spacer) DNA. The moderately repeated transposable element families. The most complex of these are the repetitive sequences, some of remainder of the genome consists of spacer DNA, which is which are functional and some of which are without simply a broad category of undefined DNA sequences. function. Functional repetitive sequences are classified into The human nuclear genome consists of 23 pairs of dispersed and/or tandemly repeated gene families that chromosomes, or 46 DNA molecules, of differing sizes either encode proteins (and may include noncoding (Table 1). -
IMGT-Choreography for Immunogenetics and Immunoinformatics
In Silico Biology 5 (2005) 45–60 45 IOS Press IMGT-Choreography for Immunogenetics and Immunoinformatics Marie-Paule Lefranc∗, Oliver Clement,´ Quentin Kaas, Elodie Duprat, Patrick Chastellan, Isabelle Coelho, Kora Combres, Chantal Ginestoux, Veronique´ Giudicelli, Denys Chaume and Gerard´ Lefranc IMGT, the international ImMunoGeneTics information system , Universite´ Montpellier II, Laboratoire d’ImmunoGen´ etique´ Moleculaire´ LIGM, UPR CNRS 1142, Institut de Gen´ etique´ Humaine IGH, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France Tel.: +33 4 99 61 99 65; Fax: +33 4 99 61 99 01 Edited by H. Michael; received 11 September 2004; revised and accepted 14 December 2004; published 24 December 2004 ABSTRACT: IMGT, the international ImMunoGeneTics information system (http://imgt.cines.fr), was created in 1989 at Montpellier, France. IMGT is a high quality integrated knowledge resource specialized in immunoglobulins (IG), T cell receptors (TR), major histocompatibility complex (MHC) of human and other vertebrates, and related proteins of the immune system (RPI) which belong to the immunoglobulin superfamily (IgSF) and MHC superfamily (MhcSF). IMGT provides a common access to standardized data from genome, proteome, genetics and three-dimensional structures. The accuracy and the consistency of IMGT data are based on IMGT-ONTOLOGY, a semantic specification of terms to be used in immunogenetics and immunoinformatics. IMGT-ONTOLOGY has been formalized using XML Schema (IMGT-ML) for interoperability with other information systems. We are developing Web services to automatically query IMGT databases and tools. This is the first step towards IMGT-Choreography which will trigger and coordinate dynamic interactions between IMGT Web services to process complex significant biological and clinical requests. -
Multiple Sclerosis: Shall We Target CD33?
G C A T T A C G G C A T genes Article Multiple Sclerosis: Shall We Target CD33? Vasileios Siokas 1, Zisis Tsouris 1, Athina-Maria Aloizou 1 , Christos Bakirtzis 2, Ioannis Liampas 1 , Georgios Koutsis 3 , Maria Anagnostouli 4 , Dimitrios P. Bogdanos 5, Nikolaos Grigoriadis 2, Georgios M. Hadjigeorgiou 1,6 and Efthimios Dardiotis 1,* 1 Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece; [email protected] (V.S.); [email protected] (Z.T.); [email protected] (A.-M.A.); [email protected] (I.L.); [email protected] (G.M.H.) 2 Multiple Sclerosis Center, B’ Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, GR54636 Thessaloniki, Greece; [email protected] (C.B.); [email protected] (N.G.) 3 Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Vassilissis Sofias 72-74 Ave, 11528 Athens, Greece; [email protected] 4 Multiple Sclerosis and Demyelinating Diseases Unit and Immunogenetics Laboratory, 1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, 115 28 Athens, Greece; [email protected] 5 Department of Rheumatology and Clinical Immunology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece; [email protected] 6 Department of Neurology, Medical School, University of Cyprus, 1678 Nicosia, Cyprus * Correspondence: [email protected]; Tel.: +30-241-350-1137 Received: 23 September 2020; Accepted: 5 November 2020; Published: 12 November 2020 Abstract: Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system (CNS).