Bacterial Population Genetics in Infectious Disease

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Bacterial Population Genetics in Infectious Disease Bacterial Population Genetics in Infectious Disease Edited by D. Ashley Robinson Daniel Falush Edward J. Feil A John Wiley & Sons, Inc., Publication Bacterial Population Genetics in Infectious Disease Bacterial Population Genetics in Infectious Disease Edited by D. Ashley Robinson Daniel Falush Edward J. Feil A John Wiley & Sons, Inc., Publication Copyright © 2010 by John Wiley & Sons, Inc. All rights reserved. Published by John Wiley & Sons, Inc., Hoboken, New Jersey. Published simultaneously in Canada. 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For general information on our other products and services or for technical support, please contact our Customer Care Department within the United States at (800) 762-2974, outside the United States at (317) 572-3993 or fax (317) 572-4002. Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic formats. For more information about Wiley products, visit our web site at www.wiley.com. Library of Congress Cataloging-in-Publication Data Bacterial population genetics in infectious disease / editors, D. Ashley Robinson, Daniel Falush, and Edward J. Feil. p. ; cm. Includes bibliographical references and index. ISBN 978-0-470-42474-2 (cloth) 1. Pathogenic bacteria. 2. Bacterial genetics. 3. Population genetics. I. Robinson, D. Ashley. II. Falush, Daniel. III. Feil, Edward J. [DNLM: 1. Bacteria–genetics. 2. Bacterial Infections–genetics. 3. Genetic Variation. 4. Genetics, Population. QW 51 B1327 2010] QR201.B34B355 2010 616.07–dc22 2009039211 Printed in the United States of America. 10 9 8 7 6 5 4 3 2 1 In memory of Thomas S. Whittam Contents Foreword xi 3.5 Beyond the Tree Model 53 References 58 Preface xv Contributors xvii 4 Genetic Recombination and Bacterial Population Structure 61 4.1 Introduction 61 Part I Concepts and Methods in Bacterial 4.2 Constraints on LGT 62 Population Genetics 4.3 Infl uences of LGT on Sequence Analyses 65 1 The Coalescent of Bacterial 4.4 The Detection of Individual Populations 3LGT Events 66 1.1 Background and Motivation 3 4.5 The Estimation of Homologous 1.2 Population Reproduction Recombination Rates 74 Models 4 4.6 Properly Accounting for 1.3 Time and the Effective LGT During Sequence Population Size 5 Analyses 75 1.4 The Genealogy of a Sample 4.7 Questions Relating Directly of Size n 8 to LGT 76 1.5 From Coalescent Time to References 80 Real Time 9 1.6 Mutations 9 5 Statistical Methods for Detecting 1.7 Demography 11 the Presence of Natural Selection 1.8 Recombination and Gene in Bacterial Populations 87 Conversion 13 5.1 Introduction 87 1.9 Summary 17 5.2 Natural Selection 88 References 18 5.3 Statistical Methods for Detecting the Presence of 2 Linkage, Selection, and the Natural Selection 88 Clonal Complex 19 5.4 Statistical Methods for 2.1 Introduction—Historical Bacterial Populations 94 Overview 19 5.5 An Example 98 2.2 Recombination, Linkage, and 5.6 Discussion and Perspective 99 Substructure 20 References 100 2.3 Neutrality versus Selection 25 2.4 Clustering Techniques 29 6 Demographic Infl uences on References 33 Bacterial Population Structure 103 6.1 Bacterial Population Size 103 3 Sequence-Based Analysis of 6.2 Measures of Genetic Bacterial Population Structures 37 Diversity 104 3.1 Introduction 37 6.3 The Concept of Effective 3.2 Alignments 38 Population Size 106 3.3 Phylogenetic Methods 43 6.4 Inferring Past Demography from 3.4 Measures of Uncertainty 49 Genetic Sequence Data 111 vii viii Contents 6.5 Population Subdivision 112 9.4 Molecular Genotyping of B. 6.6 What is a Bacterial anthracis 172 Population? 114 9.5 Genotypes within the Anthrax 6.7 Conclusion 115 Districts in North America 174 References 116 9.6 Phylogenetic Resolution within the WNA Lineage 174 7 Population Genomics of Bacteria 121 9.7 Phylogeographic Resolution within the Ames Lineage 176 7.1 Introduction 121 9.8 Additional B. anthracis 7.2 Classical Bacterial Genotypes in North 122 Population Genetics America 177 131 7.3 The Genomics Era 9.9 Conclusions 178 7.4 Bacterial Population References 178 Genomics 132 7.5 Next-Gen Bacterial 10 Population Genetics Population Genomics 135 of Campylobacter 181 7.6 Next-Gen Genomics Technology 137 10.1 Introduction 181 7.7 Next-Gen Genomic Data 10.2 Human Infection 182 Analysis 141 10.3 Genetic Structure 183 7.8 Conclusions/Future 10.4 Models of Campylobacter Prospects 146 Evolution 187 References 147 10.5 Clades and Species 190 10.6 Conclusion 191 8 The Use of MLVA and SNP References 191 Analysis to Study the Population Genetics of Pathogenic Bacteria 153 11 Population Genetics of Enterococcus 195 8.1 Introduction 153 11.1 Introduction 195 8.2 MLVA and Other DNA 11.2 Antibiotic Resistance 196 Fragment-Based Methods 154 11.3 Vancomycin Resistance 197 8.3 SNP and DNA Sequence-Based 11.4 VRE: A Zoonosis or Not? 199 Methods 157 11.5 Population Structure and Genetic 8.4 Conclusion 162 Evolution: Similarities and References 163 Differences Between E. faecium and E. faecalis 199 11.6 What Is Driving GD in E. faecium and E. faecalis? 205 Part II Population Genetics of Select 11.7 The Accessory Genome of E. Bacterial Pathogens faecium and E. faecalis 208 11.8 Summary, Conclusions, and 9 Population Genetics of Bacillus: Future Perspectives 211 Phylogeography of Anthrax in References 212 North America 169 12 Population Biology of Lyme 9.1 Introduction 169 Borreliosis Spirochetes 217 9.2 History of Anthrax in North America 169 12.1 Introduction 217 9.3 The Anthrax Districts after 12.2 Genome Organization of LB 1944 171 Spirochetes 219 Contents ix 12.3 Genotyping of LB Spirochetes 15 Population Genetics of Salmonella: and Phylogenetic Tools 222 Selection for Antigenic Diversity 287 12.4 Population Biology and Evolution 15.1 Introduction 287 of LB Spirochetes 224 15.2 Generation Timescale 12.5 Do LB Species Exist? 236 Diversifi cation 292 12.6 Future Research Avenues 237 15.3 Antigenic Diversity References 239 in Salmonella 296 15.4 Why Are Diverse H and O Antigens Maintained 13 Population Genetics of in Salmonella? 301 Neisseria meningitidis 247 15.5 Conclusions 311 13.1 Introduction 247 References 311 13.2 A Brief History of Typing of Meningococci 247 16 Population Genetics 13.3 Species Separation 248 of Staphylococcus 321 13.4 Sampling Strategies 251 13.5 The Clonal Complexes of 16.1 Introduction 321 Meningococci 251 16.2 Overview of The Staphylococcal 13.6 Forces Shaping the Population Structure 322 Meningococcal 16.3 Staphylococcal Population Metalineage 256 Structure in Specifi c 13.7 Virulence, a Mysterious Disease Contexts 327 Trait 258 16.4 Origin and Maintenance of 13.8 Population Effect of Staphylococcal Genetic Meningococcal Vaccines 259 Variation 331 13.9 Antibiotic Resistance and 16.5 Macroevolutionary Meningococcal Lineages 260 Considerations and 13.10 Concluding Remarks 261 Concluding Remarks 335 References 261 References 336 Appendix 1—Diversity and Differentiation 342 14 Population Genetics of Pathogenic Escherichia coli 269 17 Population Genetics of Streptococcus 345 14.1 Introduction 269 14.2 E. coli Population Genetics: 17.1 Habitats, Transmission, Clonal or not Clonal? 270 and Disease 345 14.3 The E. coli Phylogenetic 17.2 Classical Strain Typing 347 Structure 273 17.3 Multilocus Sequence 14.4 The Evolutionary History of a Typing (MLST) Based on Host-Specifi c Obligate Pathogen: Housekeeping Genes 350 The Shigella and EIEC 17.4 Species Boundaries and Case Study 276 Gene Flow 354 14.5 What Makes You an 17.5 Niche-driving Genes 360 Opportunistic Pathogen? 278 17.6 Bacterial Population Dynamics 14.6 The Virulence Resistance and Selection 364 Trade-off 281 17.7 Machinery of Genetic Change, 14.7 Concluding Remarks 281 Revisited 371 References 282 References 371 x Contents 18 Population Genetics of Vibrios 379 18.4 V. vulnifi cus 392 18.5 Conclusions 397 18.1 Introduction 379 References 397 18.2 V. cholerae 382 18.3 V. parahaemolyticus 389 Index 403 Foreword W hen I joined the faculty at the University of Sussex in 1980 the distinguished evolutionary biologist John Maynard Smith despaired of microbiologists for their lack of interest in the population genetics of bacteria.
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