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遗传学概要(影印版)Concepts of Genetics(9e)
  • 书号:9787030317605
    作者:(美)克卢格(Klug,W.S.)等
  • 外文书名:
  • 装帧:平装
    开本:A4
  • 页数:779
    字数:1500000
    语种:en
  • 出版社:科学出版社
    出版时间:2011-07-01
  • 所属分类:Q39 人类遗传学 0710 生物学
  • 定价: ¥198.00元
    售价: ¥156.42元
  • 图书介质:
    纸质书

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本书保持了前八版的编写特色:注重基础知识,概念清晰准确,探讨解决专业问题,师生易学易教。第九版内容拓展到基因组、生物信息、蛋白质组及相关前沿领域。该书在亚马逊专业教材销售排行榜长期名列前茅,被许多北美、欧洲高校教学选用。
  第九版内容主要包括:遗传学概况,有丝分裂和减数分裂,孟德尔遗传学,孟德尔比率,真核生物染色体图谱,细菌和噬菌体的遗传分析,性别决定和性染色体,染色体突变:染色体数量和分布,核外遗传,DNA结构与分析,DNA复制与重组,染色体DNA的组织,重组DNA技术和基因克隆,遗传密码和转录,翻译,基因突变和DNA修复,原核生物基因表达,真核生物基因表达调控,模式生物的发育遗传学,癌症和细胞周期调控,基因组学,蛋白质组学,生物信息学,基因组动力学:转座子,免疫遗传学,真核病毒,基因组分析——基因功能,基因工程的应用及生物伦理剖析,数量遗传学和多因子性状,行为遗传学,群体遗传学,进化遗传学,保护遗传学。
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目录

  • Brief Contents
    PART ONE GENES,CHROMOSOMES,ANDHEREDITY
    1 Introduction to Genetics 1
    2 Mitosis and Meiosis 18
    3 Mendelian Genetics 42
    4 Extensions of Mendelian Genetics 70
    5 Chromosome Mapping in Eukaryotes 105
    6 Genetic Analysis and Mapping in Bacteria and Bacteriophages 143
    7 Sex Determination and Sex Chromosomes 173
    8 Chromosome Mutations: Variation in Chromosome Number and Arrangement 198
    9 Extranuclear Inheritance 227
    PART TWO DNA:STRUCTURE,REPLICATION,AND VARIATION
    10 DNA Structure and Analysis 245
    11 DNA Replication and Recombination 278
    12 DNA Organization in Chromosomes 302
    13 Recombinant DNA Technology and Gene Cloning 322
    PART THREE GENE EXPRESSION,REGULATION,AND DEVELOPMENT
    14 The Genetic Code and Transcription 352
    15 Translation and Proteins 381
    16 Gene Mutation and DNA Repair 410
    17 Regulation of Gene Expression in Prokaryotes 435
    18 Regulation of Gene Expression in Eukaryotes 457
    19 Developmental Genetics of Model Organisms 484
    20 Cancer and Regulation of the Cell Cycle 511
    PART FOUR GENOMICS
    21 Genomics, Bioinformatics, and Proteomics 531
    22 Genome Dynamics: Transposons, Immunogenetics, and Eukaryotic Viruses 574
    23 Genomic Analysis—Dissection of Gene Function 605
    24 Applications and Ethics of Genetic Engineering and Biotechnology 633
    PART FIVE GENETICS OF ORGANISMS AND POPULATION
    25 Quantitative Genetics and Multifactorial Traits 668
    26 Genetics and Behavior 688
    27 Population Genetics 710
    28 Evolutionary Genetics 737
    29 Conservation Genetics 762
    Appendix A Glossary A-1
    Appendix B Answers to Selected Problems A-18
    Appendix C Selected Readings A-57
    Credits C-1
    Index I-1
    Contents
    Preface
    PART ONE GENES,CHROMOSOMES,AND HEREDITY
    1 Introduction to Genetics 1
    1.1 Genetics Progressed from Mendel to DNA in Less Than a Century 2
    Mendel’s Work on Transmission of Traits 2
    The Chromosome Theory of Inheritance: Uniting Mendel and Meiosis 3
    Genetic Variation 4
    The Search for the Chemical Nature of Genes: DNA or Protein? 5
    1.2 Discovery of the Double Helix Launched the Era of Molecular Genetics 5
    The Structure of DNA and RNA 5
    Gene Expression: From DNA to Phenotype 5
    Proteins and Biological Function 6
    Linking Genotype to Phenotype: Sickle-Cell Anemia 7
    1.3 Development of Recombinant DNA Technology Began the Era of Cloning 8
    1.4 The Impact of Biotechnology Is Continually Expanding 8
    Plants, Animals, and the Food Supply 9
    Who Owns Transgenic Organisms? 9
    Biotechnology in Genetics and Medicine 10
    1.5 Genomics, Proteomics, and Bioinformatics Are New and Expanding Fields 10
    1.6 Genetic Studies Rely on the Use of Model Organisms 12
    The Modern Set of Genetic Model Organisms 12
    Model Organisms and Human Diseases 13
    1.7 We Live in the Age of Genetics 14
    The Nobel Prize and Genetics 14
    Genetics and Society 15
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Genetics and Society: The Application and Impact of Science and Technology 15
    EXPLORING GENOMICS
    Internet Resources for Learning about the Genomes of Model Organisms 16
    Chapter Summary 17
    Problems and Discussion Questions 17
    2 Mitosis and Meiosis 18
    2.1 Cell Structure Is Closely Tied to Genetic Function 19
    2.2 Chromosomes Exist in Homologous Pairs in Diploid Organisms 21
    2.3 Mitosis Partitions Chromosomes into Dividing Cells 23
    Interphase and the Cell Cycle 24
    Prophase 24
    Prometaphase and Metaphase 25
    Anaphase 25
    Telophase 26
    Cell-Cycle Regulation and Checkpoints 27
    2.4 Meiosis Reduces the Chromosome Number from Diploid to Haploid in Germ Cells and Spores 28
    An Overview of Meiosis 28
    The First Meiotic Division: Prophase I 28
    Metaphase, Anaphase, and Telophase I 31
    The Second Meiotic Division 31
    2.5 The Development of Gametes Varies in Spermatogenesis Compared to Oogenesis 31
    2.6 Meiosis Is Critical to the Successful Sexual Reproduction of All Diploid Organisms 32
    2.7 Electron Microscopy Has Revealed the Physical Structure of Mitotic and Meiotic Chromosomes 34
    The Synaptonemal Complex 36
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Breast Cancer: The Double-Edged Sword of Genetic Testing 37
    EXPLORING GENOMICS
    PubMed: Exploring and Retrieving Biomedical Literature 38
    Chapter Summary 38
    Insights and Solutions 39
    Problems and Discussion Questions 40
    Extra-Spicy Problems 41
    3 Mendelian Genetics 42
    3.1 Mendel Used a Model Experimental Approach to Study Patterns of Inheritance 43
    3.2 The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation 43
    Mendel’s First Three Postulates 45
    Modern Genetic Terminology 45
    Mendel’s Analytical Approach 45
    Punnett Squares 46
    The Testcross: One Character 46
    3.3 Mendel’s Dihybrid Cross Generated a Unique F2 Ratio 47
    Mendel’s Fourth Postulate: Independent Assortment 47
    How Mendel’s Peas Become Wrinkled: A Molecular Explanation 48
    The Testcross: Two Characters 49
    3.4 The Trihybrid Cross Demonstrates That Mendel’s Principles Apply to Inheritance of Multiple Traits 49
    The Forked-Line Method, or Branch Diagram 50
    3.5 Mendel’s Work Was Rediscovered in the Early Twentieth Century 52
    3.6 The Correlation of Mendel’s Postulates with the Behavior of Chromosomes Provided the Foundation of Modern Transmission Genetics 52
    The Chromosomal Theory of Inheritance 52
    Unit Factors, Genes, and Homologous Chromosomes 52
    3.7 Independent Assortment Leads to Extensive Genetic Variation 54
    3.8 Laws of Probability Help to Explain Genetic Events 54
    Conditional Probability 55
    The Binomial Theorem 55
    3.9 Chi-Square Analysis Evaluates the Influence of Chance on Genetic Data 56
    Chi-Square Calculations and the Null Hypothesis 57
    Interpreting Probability Values 58
    3.10 Pedigrees Reveal Patterns of Inheritance of Human Traits 59
    Pedigree Conventions 59
    Pedigree Analysis 60
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Tay–Sachs Disease: The Molecular Basis of a Recessive Disorder in Humans 61
    EXPLORING GENOMICS
    Online Mendelian Inheritance in Man 62
    Chapter Summary 63
    Insights and Solutions 63
    Problems and Discussion Questions 66
    Extra-Spicy Problems 68
    4 Extensions of Mendelian Genetics 70
    4.1 Alleles Alter Phenotypes in Different Ways 71
    4.2 Geneticists Use a Variety of Symbols for Alleles 72
    4.3 Neither Allele Is Dominant in Incomplete, or Partial, Dominance 72
    4.4 In Codominance, the Influence of Both Alleles in a Heterozygote Is Clearly Evident 73
    4.5 Multiple Alleles of a Gene May Exist in a Population 74
    The ABO Blood Groups 74
    The A and B Antigens 75
    The Bombay Phenotype 76
    The white Locus in Drosophila 76
    4.6 Lethal Alleles Represent Essential Genes 77
    Recessive Lethal Mutations 77
    Dominant Lethal Mutations 78
    4.7 Combinations of Two Gene Pairs with Two Modes of
    Inheritance Modify the 9:3:3:1 Ratio 78
    4.8 Phenotypes Are Often Affected by More Than One Gene 79
    Epistasis 79
    Novel Phenotypes 82
    Other Modified Dihybrid Ratios 84
    4.9 Complementation Analysis Can Determine If Two Mutations Causing a Similar Phenotype Are Alleles 84
    4.10 Expression of a Single Gene May Have Multiple Effects 84
    4.11 X-Linkage Describes Genes on the X Chromosome 85
    X-Linkage in Drosophila 86
    X-Linkage in Humans 86
    Lesch–Nyhan Syndrome: The Molecular Basis of a Rare X-Linked Recessive Disorder 88
    4.12 In Sex-Limited and Sex-Influenced Inheritance, an Individual’s Sex Influences the Phenotype 89
    4.13 Genetic Background and the Environment May Alter Phenotypic Expression 90
    Penetrance and Expressivity 90
    Genetic Background: Suppression and Position Effects 91
    Temperature Effects—An Introduction to Conditional Mutations 91
    Nutritional Effects 92
    Onset of Genetic Expression 92
    Genetic Anticipation 93
    Genomic (Parental) Imprinting 93
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Improving the Genetic Fate of Purebred Dogs 94
    EXPLORING GENOMICS
    The Human Epigenome Project 95
    Chapter Summary 96
    Insights and Solutions 97
    Problems and Discussion Questions 98
    Extra-Spicy Problems 102
    5 Chromosome Mapping in Eukaryotes 105
    5.1 Genes Linked on the Same Chromosome Segregate Together 106
    The Linkage Ratio 107
    5.2 Crossing Over Serves as the Basis for Determining the Distance between Genes in Chromosome Mapping 109
    Morgan and Crossing Over 109
    Sturtevant and Mapping 109
    Single Crossovers 111
    5.3 Determining the Gene Sequence during Mapping Requires the Analysis of Multiple Crossovers 112
    Multiple Exchanges 112
    Three-Point Mapping in Drosophila 113
    Determining the Gene Sequence 115
    A Mapping Problem in Maize 116
    5.4 Interference Affects the Recovery of Multiple Exchanges 119
    5.5 As the Distance between Two Genes Increases, the Results of Mapping Experiments Become Less Accurate 120
    5.6 Drosophila Genes Have Been Extensively Mapped 121
    5.7 Lod Score Analysis and Somatic Cell Hybridization Were Historically Important in Creating Human Chromosome Maps 121
    5.8 Chromosome Mapping Is Now Possible Using DNA Markers and Annotated Computer Databases 124
    5.9 Crossing Over Involves a Physical Exchange between Chromatids 125
    5.10 Recombination Occurs between Mitotic Chromosomes 125
    5.11 Exchanges Also Occur between Sister Chromatids 126
    5.12 Linkage and Mapping Studies Can Be Performed in Haploid Organisms 127
    Gene-to-Centromere Mapping 129
    Ordered versus Unordered Tetrad Analysis 130
    Linkage and Mapping 130
    5.13 Did Mendel Encounter Linkage? 133
    Why Didn’t Gregor Mendel Find Linkage? 133
    EXPLORING GENOMICS
    Human Chromosome Maps on the Internet 134
    Chapter Summary 135
    Insights and Solutions 135
    Problems and Discussion Questions 137
    Extra-Spicy Problems 141
    6 Genetic Analysis and Mapping in Bacteria and Bacteriophages 143
    6.1 Bacteria Mutate Spontaneously and Grow at an Exponential Rate 144
    6.2 Conjugation Is One Means of Genetic Recombination in Bacteria 145
    F+ and F– Bacteria 146
    Hfr Bacteria and Chromosome Mapping 147
    Recombination in Matings: A Reexamination 151
    The State and Merozygotes 151
    6.3 Rec Proteins Are Essential to Bacterial Recombination 151
    6.4 The F Factor Is an Example of a Plasmid 153
    6.5 Transformation Is Another Process Leading to Genetic Recombination in Bacteria 153
    The Transformation Process 154
    Transformation and Linked Genes 155
    6.6 Bacteriophages Are Bacterial Viruses 155
    Phage T4: Structure and Life Cycle 155
    The Plaque Assay 156
    Lysogeny 157
    6.7 Transduction Is Virus-Mediated Bacterial DNA Transfer 158
    The Lederberg-Zinder Experiment 158
    The Nature of Transduction 158
    Transduction and Mapping 160
    6.8 Bacteriophages Undergo Intergenic Recombination 160
    Bacteriophage Mutations 160
    Mapping in Bacteriophages 161
    6.9 Intragenic Recombination Occurs in Phage T4 161
    The rII Locus of Phage T4 162
    Complementation by rII Mutations 162
    Recombinational Analysis 163
    Deletion Testing of the rII Locus 163
    The rII Gene Map 164
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Bacterial Genes and Disease: From Gene Expression to Edible Vaccines 166
    EXPLORING GENOMICS
    Microbial Genome Program (MGP) 167
    Chapter Summary 168
    Insights and Solutions 168
    Problems and Discussion Questions 169
    Extra-Spicy Problems 171
    7 Sex Determination and Sex Chromosomes 173
    7.1 Life Cycles Depend on Sexual Differentiation 174
    Chlamydomonas 174
    Zea mays 175
    Caenorhabditis elegans 176
    7.2 X and Y Chromosomes Were First Linked to Sex Determination Early in the Twentieth Century 177
    7.3 The Y Chromosome Determines Maleness in Humans 178
    Klinefelter and Turner Syndromes 178
    47,XXX Syndrome 180
    47,XYY Condition 180
    Sexual Differentiation in Humans 181
    The Y Chromosome and Male Development 182
    7.4 The Ratio of Males to Females in Humans Is Not 1.0 183
    7.5 Dosage Compensation Prevents Excessive Expression of X-Linked Genes in Humans and Other Mammals 184
    Barr Bodies 184
    The Lyon Hypothesis 185
    The Mechanism of Inactivation 186
    7.6 The Ratio of X Chromosomes to Sets of Autosomes Determines Sex in Drosophila 187
    Dosage Compensation in Drosophila 189
    Drosophila Mosaics 190
    7.7 Temperature Variation Controls Sex Determination in Reptiles 190
    GENETICS, TECHNOLOGY, AND SOCIET Y
    A Question of Gender: Sex Selection in Humans 192
    EXPLORING GENOMICS
    The Ovarian Kaleidoscope Database (OKDB) 193
    Chapter Summary 194
    Insights and Solutions 194
    Problems and Discussion Questions 194
    Extra-Spicy Problems 195
    8 Chromosome Mutations:
    Variation in Chromosome Number and Arrangement 198
    8.1 Specific Terminology Describes Variations in Chromosome Number 199
    Variation in the Number of Chromosomes Results from Nondisjunction 199
    8.2 Monosomy, the Loss of a Single Chromosome, May Have Severe Phenotypic Effects 200
    8.3 Trisomy Involves the Addition of a Chromosome to a Diploid Genome 200
    Down Syndrome 201
    Patau Syndrome 203
    Edwards Syndrome 204
    Viability in Human Aneuploidy 204
    8.4 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants 205
    Autopolyploidy 205
    Allopolyploidy 206
    Endopolyploidy 208
    8.5 Variation Occurs in the Internal Composition and Arrangement of Chromosomes 208
    8.6 A Deletion Is a Missing Region of a Chromosome 209
    Cri du Chat Syndrome in Humans 210
    Drosophila Heterozygous for Deficiencies May Exhibit Pseudodominance 210
    8.7 A Duplication Is a Repeated Segment of the Genetic Material 211
    Gene Redundancy and Amplification: Ribosomal RNA Genes 211
    The Bar Mutation in Drosophila 212
    The Role of Gene Duplication in Evolution 213
    Copy Number Variants (CNVs)—Duplications and Deletions of Specific DNA Sequences 214
    8.8 Inversions Rearrange the Linear Gene Sequence 214
    Consequences of Inversions during Gamete Formation 215
    Position Effects of Inversions 216
    Evolutionary Advantages of Inversions 217
    8.9 Translocations Alter the Location of Chromosomal Segments in the Genome 217
    Translocations in Humans: Familial Down Syndrome 218
    8.10 Fragile Sites in Humans Are Susceptible to Chromosome Breakage 218
    Fragile X Syndrome (Martin–Bell Syndrome) 219
    GENETICS, TECHNOLOGY, AND SOCIET Y
    The Link between Fragile Sites and Cancer 220
    EXPLORING GENOMICS
    Atlas of Genetics and Cytogenetics in Oncology and Haematology 221
    Chapter Summary 222
    Insights and Solutions 223
    Problems and Discussion Questions 224
    Extra-Spicy Problems 225
    9 Extranuclear Inheritance 227
    9.1 Organelle Heredity Involves DNA in Chloroplasts and Mitochondria 228
    Chloroplasts: Variegation in Four O’Clock Plants 228
    Chloroplast Mutations in Chlamydomonas 228
    Mitochondrial Mutations: The Case of poky in Neurospora 229
    Petites in Saccharomyces 230
    9.2 Knowledge of Mitochondrial and Chloroplast DNA Helps Explain Organelle Heredity 231
    Organelle DNA and the Endosymbiotic Theory 231
    Molecular Organization and Gene Products of Chloroplast DNA 232
    Molecular Organization and Gene Products of Mitochondrial DNA 233
    9.3 Mutations in Mitochondrial DNA Cause Human Disorders 234
    9.4 Infectious Heredity Is Based on a Symbiotic Relationship between Host Organism and Invader 236
    Kappa in Paramecium 236
    Infective Particles in Drosophila 236
    9.5 In Maternal Effect, the Maternal Genotype Has a Strong Influence during Early Development 237
    Ephestia Pigmentation 237
    Limnaea Coiling 238
    Embryonic Development in Drosophila 239
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Mitochondrial DNA and the Mystery of the Romanovs 239
    EXPLORING GENOMICS
    Mitochondrial Genes and Mitomap 240
    Chapter Summary 241
    Insights and Solutions 242
    Problems and Discussion Questions 242
    Extra-Spicy Problems 243
    PART TWO DNA:STRUCTURE,REPLICATION,AND VARIATION
    10 DNA Structure and Analysis 245
    10.1 The Genetic Material Must Exhibit Four Characteristics 246
    10.2 Until 1944, Observations Favored Protein as the Genetic Material 247
    10.3 Evidence Favoring DNA as the Genetic Material Was First Obtained during the Study of Bacteria and Bacteriophages 247
    Transformation: Early Studies 247
    Transformation: The Avery, MacLeod, and McCarty Experiment 249
    The Hershey–Chase Experiment 250
    Transfection Experiments 251
    10.4 Indirect and Direct Evidence Supports the Concept that DNA Is the Genetic Material in Eukaryotes 253
    Indirect Evidence: Distribution of DNA 253
    Indirect Evidence: Mutagenesis 253
    Direct Evidence: Recombinant DNA Studies 254
    10.5 RNA Serves as the Genetic Material in Some Viruses 254
    10.6 Knowledge of Nucleic Acid Chemistry Is Essential to the Understanding of DNA Structure 255
    Nucleotides: Building Blocks of Nucleic Acids 255
    Nucleoside Diphosphates and Triphosphates 256
    Polynucleotides 256
    10.7 The Structure of DNA Holds the Key to Understanding Its Function 257
    Base-Composition Studies 258
    X-Ray Diffraction Analysis 259
    The Watson–Crick Model 259
    Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid 261
    10.8 Alternative Forms of DNA Exist 262
    10.9 The Structure of RNA Is Chemically Similar to DNA, but Single Stranded 263
    10.10 Many Analytical Techniques Have Been Useful during the Investigation of DNA and RNA 264
    Absorption of Ultraviolet Light 264
    Sedimentation Behavior 264
    Denaturation and Renaturation of Nucleic Acids 266
    Molecular Hybridization 267
    Fluorescent in situ Hybridization (FISH) 268
    Reassociation Kinetics and Repetitive DNA 268
    Electrophoresis of Nucleic Acids 270
    GENETICS, TECHNOLOGY, AND SOCIET Y
    The Twists and Turns of the Helical Revolution 271
    EXPLORING GENOMICS
    Introduction to Bioinformatics: BLAST 272
    Chapter Summary 273
    Insights and Solutions 274
    Problems and Discussion Questions 275
    Extra-Spicy Problems 276
    11 DNA Replication and Recombination 278
    11.1 DNA Is Reproduced by Semiconservative Replication 279
    The Meselson–Stahl Experiment 280
    Semiconservative Replication in Eukaryotes 281
    Origins, Forks, and Units of Replication 282
    11.2 DNA Synthesis in Bacteria Involves Five Polymerases, as Well as Other Enzymes 283
    DNA Polymerase I 283
    Synthesis of Biologically Active DNA 284
    DNA Polymerases II, III, IV, and V 285
    11.3 Many Complex Tasks Must Be Performed during DNA Replication 286
    Unwinding the DNA Helix 286
    Initiation of DNA Synthesis with an RNA Primer 287
    Continuous and Discontinuous DNA Synthesis of Antiparallel Strands 287
    Concurrent Synthesis on the Leading and Lagging Strands 288
    Integrated Proofreading and Error Correction 288
    11.4 A Summary of DNA Replication in Prokaryotes 289
    11.5 Replication in Prokaryotes Is Controlled by a Variety of Genes 289
    11.6 Eukaryotic DNA Synthesis Is Similar to Synthesis in Prokaryotes, but More Complex 290
    Multiple Replication Origins 290
    Eukaryotic DNA Polymerases 291
    11.7 Telomeres Provide Structural Integrity at Chromosome Ends but Are Problematic to Replicate 292
    Telomere Structure 292
    Replication at the Telomere 292
    11.8 DNA Recombination, Like DNA Replication, Is Directed by Specific Enzymes 294
    11.9 Gene Conversion Is a Consequence of DNA Recombination 294
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Telomeres: Defining the End of the Line? 296
    EXPLORING GENOMICS
    Entrez: A Gateway to Genome Resources 297
    Chapter Summary 298
    Insights and Solutions 298
    Problems and Discussion Questions 299
    Extra-Spicy Problems 300
    12 DNA Organization in Chromosomes 302
    12.1 Viral and Bacterial Chromosomes Are Relatively Simple DNA Molecules 303
    12.2 Supercoiling Facilitates Compaction of the DNA of Viral and Bacterial Chromosomes 305
    12.3 Specialized Chromosomes Reveal Variations in the Organization of DNA 306
    Polytene Chromosomes 306
    Lampbrush Chromosomes 307
    12.4 DNA Is Organized into Chromatin in Eukaryotes 308
    Chromatin Structure and Nucleosomes 308
    High-Resolution Studies of the Nucleosome Core 310
    Heterochromatin 312
    12.5 Chromosome Banding Differentiates Regions along the Mitotic Chromosome 312
    12.6 Eukaryotic Chromosomes Demonstrate Complex Sequence Organization Characterized by Repetitive DNA 313
    Satellite DNA 313
    Centromeric DNA Sequences 314
    Telomeric DNA Sequences 315
    Middle Repetitive Sequences: VNTRs and STRs 316
    Repetitive Transposed Sequences: SINEs and LINEs 316
    Middle Repetitive Multiple-Copy Genes 316
    12.7 The Vast Majority of a Eukaryotic Genome Does Not Encode Functional Genes 316
    EXPLORING GENOMICS
    UniGene Transcript Maps 317
    Chapter Summary 318
    Insights and Solutions 318
    Problems and Discussion Questions 319
    Extra-Spicy Problems 320
    13 Recombinant DNA Technology and Gene Cloning 322
    13.1 Recombinant DNA Technology Combines Several Laboratory Techniques 323
    13.2 Restriction Enzymes Cut DNA at Specific Recognition Sequences 323
    13.3 Vectors Carry DNA Molecules to Be Cloned 325
    Plasmid Vectors 325
    Lambda (l) Phage Vectors 326
    Cosmid Vectors 327
    Bacterial Artificial Chromosomes 328
    Expression Vectors 328
    13.4 DNA Was First Cloned in Prokaryotic Host Cells 329
    13.5 Yeast Cells Are Used as Eukaryotic Hosts for Cloning 330
    13.6 Plant and Animal Cells Can Be Used as Host Cells for Cloning 330
    Plant Cell Hosts 331
    Mammalian Cell Hosts 331
    13.7 The Polymerase Chain Reaction Makes DNA Copies Without Host Cells 332
    Limitations of PCR 333
    Other Applications of PCR 333
    13.8 Recombinant Libraries Are Collections of Cloned Sequences 333
    Genomic Libraries 333
    Chromosome-Specific Libraries 334
    cDNA Libraries 335
    13.9 Specific Clones Can Be Recovered from a Library 336
    Probes Identify Specific Clones 336
    Screening a Library 337
    13.10 Cloned Sequences Can Be Analyzed in Several Ways 338
    Restriction Mapping 338
    Nucleic Acid Blotting 339
    13.11 DNA Sequencing Is the Ultimate Way to Characterize a Clone 341
    Recombinant DNA Technology and Genomics 342
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Beyond Dolly: The Cloning of Humans 344
    EXPLORING GENOMICS
    Manipulating Recombinant DNA: Restriction Mapping and Designing PCR Primers 345
    Chapter Summary 346
    Insights and Solutions 347
    Problems and Discussion Questions 347
    Extra-Spicy Problems 350
    PART THREE GENEEX P R ESION , REGULATION,AND DEVELOPMENT
    14 The Genetic Code and Transcription 352
    14.1 The Genetic Code Uses Ribonucleotide Bases as “Letters” 353
    14.2 Early Studies Established the Basic Operational Patterns of the Code 354
    The Triplet Nature of the Code 354
    The Nonoverlapping Nature of the Code 354
    The Commaless and Degenerate Nature of the Code 355
    14.3 Studies by Nirenberg, Matthaei, and Others Led to Deciphering of the Code 355
    Synthesizing Polypeptides in a Cell-Free System 355
    Homopolymer Codes 356
    Mixed Copolymers 356
    The Triplet Binding Assay 357
    Repeating Copolymers 358
    14.4 The Coding Dictionary Reveals Several Interesting Patterns among the 64 Codons 359
    Degeneracy and the Wobble Hypothesis 359
    The Ordered Nature of the Code 360
    Initiation, Termination, and Suppression 361
    14.5 The Genetic Code Has Been Confirmed in Studies of Phage MS2 361
    14.6 The Genetic Code Is Nearly Universal 361
    14.7 Different Initiation Points Create Overlapping Genes 362
    14.8 Transcription Synthesizes RNA on a DNA Template 363
    14.9 Studies with Bacteria and Phages Provided Evidence for the Existence of mRNA 363
    14.10 RNA Polymerase Directs RNA Synthesis 364
    Promoters, Template Binding, and the s Subunit 364
    Initiation, Elongation, and Termination of RNA Synthesis 365
    14.11 Transcription in Eukaryotes Differs from Prokaryotic Transcription in Several Ways 366
    Initiation of Transcription in Eukaryotes 366
    Recent Discoveries Concerning RNA Polymerase Function 367
    Heterogeneous Nuclear RNA and Its Processing: Caps and Tails 368
    14.12 The Coding Regions of Eukaryotic Genes Are Interrupted by Intervening Sequences 369
    Splicing Mechanisms: Autocatalytic RNAs 370
    Splicing Mechanisms: The Spliceosome 371
    RNA Editing Modifies the Final Transcript 372
    14.13 Transcription Has Been Visualized by Electron Microscopy 373
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Nucleic Acid-Based Gene Silencing: Attacking the Messenger 373
    EXPLORING GENOMICS
    Transcriptome Databases and Noncoding RNA Databases 374
    Chapter Summary 376
    Insights and Solutions 376
    Problems and Discussion Questions 377
    Extra-Spicy Problems 378
    15 Translation and Proteins 381
    15.1 Translation of mRNA Depends on Ribosomes and Transfer RNAs 382
    Ribosomal Structure 382
    tRNA Structure 383
    Charging tRNA 385
    15.2 Translation of mRNA Can Be Divided into Three Steps 386
    Initiation 386
    Elongation 387
    Termination 388
    Polyribosomes 388
    15.3 Crystallographic Analysis Has Revealed Many Details about the Functional Prokaryotic Ribosome 389
    15.4 Translation Is More Complex in Eukaryotes 390
    15.5 The Initial Insight That Proteins Are Important in Heredity Was Provided by the Study of Inborn Errors of Metabolism 390
    Phenylketonuria 391
    15.6 Studies of Neurospora Led to the One-Gene: One- Enzyme Hypothesis 392
    Analysis of Neurospora Mutants by Beadle and Tatum 392
    Genes and Enzymes: Analysis of Biochemical Pathways 392
    15.7 Studies of Human Hemoglobin Established That One Gene Encodes One Polypeptide 394
    Sickle-Cell Anemia 394
    Human Hemoglobins 396
    15.8 The Nucleotide Sequence of a Gene and the Amino Acid Sequence of the Corresponding Protein Exhibit Colinearity 396
    15.9 Variation in Protein Structure Provides the Basis of Biological Diversity 397
    15.10 Posttranslational Modification Alters the Final Protein Product 399
    15.11 Proteins Function in Many Diverse Roles 400
    15.12 Proteins Are Made Up of One or More Functional Domains 401
    Exon Shuffling 401
    The Origin of Protein Domains 402
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Mad Cow Disease: The Prion Story 403
    EXPLORING GENOMICS
    Translation Tools, Swiss-Prot, and Protein–Protein Interaction Databases 404
    Chapter Summary 405
    Insights and Solutions 406
    Problems and Discussion Questions 406
    Extra-Spicy Problems 407
    16 Gene Mutation and DNA Repair 410
    16.1 Gene Mutations Are Classified in Various Ways 411
    Spontaneous and Induced Mutations 411
    The Luria-Delbruck Fluctuation Test: Are Mutations Spontaneous or Adaptive? 411
    Classification Based on Location of Mutation 413
    Classification Based on Type of Molecular Change 413
    Classification Based on Phenotypic Effects 414
    16.2 Spontaneous Mutations Arise from Replication Errors and Base Modifications 415
    DNA Replication Errors 415
    Replication Slippage 415
    Tautomeric Shifts 415
    Depurination and Deamination 415
    Oxidative Damage 417
    Transposons 417
    16.3 Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation 417
    Base Analogs 417
    Alkylating Agents and Acridine Dyes 418
    Ultraviolet Light 418
    Ionizing Radiation 418
    16.4 Genomics and Gene Sequencing Have Enhanced Our Understanding of Mutations in Humans 419
    ABO Blood Groups 419
    Muscular Dystrophy 420
    Fragile X Syndrome, Myotonic Dystrophy, and Huntington Disease 420
    16.5 The Ames Test Is Used to Assess the Mutagenicity of Compounds 421
    16.6 Organisms Use DNA Repair Systems to Counteract Mutations 421
    Proofreading and Mismatch Repair 422
    Postreplication Repair and the SOS Repair System 422
    Photoreactivation Repair: Reversal of UV Damage 423
    Base and Nucleotide Excision Repair 423
    Nucleotide Excision Repair and Xeroderma Pigmentosum in Humans 424
    Double-Strand Break Repair in Eukaryotes 425
    16.7 Geneticists Use Mutations to Identify Genes and Study Gene Function 426
    Hemophilia in the Royal Family 427
    GENETICS, TECHNOLOGY, AND SOCIET Y
    In the Shadow of Chernobyl 428
    EXPLORING GENOMICS
    Sequence Alignment to Identify a Mutation 429
    Chapter Summary 430
    Insights and Solutions 431
    Problems and Discussion Questions 431
    Extra-Spicy Problems 432
    17 Regulation of Gene Expression in Prokaryotes 435
    17.1 Prokaryotes Regulate Gene Expression in Response to Environmental Conditions 436
    17.2 Lactose Metabolism in E. coli Is Regulated by an Inducible System 436
    Structural Genes 437
    The Discovery of Regulatory Mutations 438
    The Operon Model: Negative Control 438
    Genetic Proof of the Operon Model 439
    Isolation of the Repressor 441
    17.3 The Catabolite-Activating Protein (CAP) Exerts Positive Control over the lac Operon 442
    17.4 Crystal Structure Analysis of Repressor Complexes Has Confirmed the Operon Model 443
    17.5 The Tryptophan (trp) Operon in E. coli Is a Repressible Gene System 444
    Evidence for the trp Operon 445
    17.6 Attenuation Is a Critical Process in Regulation of the trp Operon in E. coli 446
    17.7 TRAP and AT Proteins Govern Attenuation in B. subtilis 446
    17.8 The ara Operon Is Controlled by a Regulator Protein That Exerts Both Positive and Negative Control 448
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Quorum Sensing: How Bacteria Talk to One Another 450
    EXPLORING GENOMICS
    Microarrays and MicrobesOnline 451
    Chapter Summary 452
    Insights and Solutions 453
    Problems and Discussion Questions 453
    Extra-Spicy Problems 454
    18 Regulation of Gene Expression in Eukaryotes 457
    18.1 Eukaryotic Gene Regulation Can Occur at Any of the Steps Leading from DNA to Protein Product 458
    18.2 Eukaryotic Gene Expression Is Influenced by Chromosome Organization and Chromatin Modifications 459
    Chromosome Territories and Transcription Factories 459
    Chromatin Remodeling 460
    DNA Methylation 461
    18.3 Eukaryotic Gene Transcription Is Regulated at Specific Cis-Acting Sites 463
    Promoters 463
    Enhancers and Silencers 464
    18.4 Eukaryotic Transcription Is Regulated by Transcription Factors that Bind to Cis-Acting Sites 465
    The Human Metallothionein IIA Gene: Multiple Cis-Acting Elements and Transcription Factors 465
    Functional Domains of Eukaryotic Transcription Factors 466
    18.5 Activators and Repressors Regulate Transcription by
    Binding to Cis-Acting Sites and Interacting with Other Transcription Factors 467
    Formation of the Transcription Initiation Complex 467
    Interactions of the General Transcription Factors with Transcription Activators 467
    18.6 Gene Regulation in a Model Organism: Inducible Transcription of the GAL Genes of Yeast 469
    18.7 Posttranscriptional Gene Regulation Occurs at All the Steps from RNA Processing to Protein Modification 470
    Alternative Splicing of mRNA 471
    Sex Determination in Drosophila: A Model for Regulation of Alternative Splicing 472
    Control of mRNA Stability 473
    Translational and Post-translational Controls 474
    18.8 RNA Silencing Controls Gene Expression in Several Ways 476
    The Molecular Mechanisms of RNA Silencing 476
    RNA Silencing in Biotechnology and Therapy 477
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Gene Regulation and Human Genetic Disorders 478
    EXPLORING GENOMICS
    Tissue-Specific Gene Expression and the ENCODE (ENCyclopedia of DNA Elements) Project 479
    Chapter Summary 480
    Insights and Solutions 480
    Problems and Discussion Questions 481
    Extra-Spicy Problems 482
    19 Developmental Genetics of Model Organisms 484
    19.1 Developmental Genetics Seeks to Explain How a
    Differentiated State Develops from Genomic Patterns of Expression 485
    19.2 Evolutionary Conservation of Developmental Mechanisms Can Be Studied Using Model Organisms 486
    Model Organisms in the Study of Development 486
    Analysis of Developmental Mechanisms 487
    Basic Concepts in Developmental Genetics 487
    19.3 Genetic Analysis of Embryonic Development in Drosophila Revealed How the Body Axis of Animals Is Specified 487
    Overview of Drosophila Development 487
    Genetic Analysis of Embryogenesis 488
    19.4 Zygotic Genes Program Segment Formation in Drosophila 489
    Gap Genes 490
    Pair-Rule Genes 490
    Segment Polarity Genes 491
    Segmentation Genes in Mice and Humans 491
    19.5 Homeotic Selector Genes Specify Parts of the Adult Body 492
    Homeotic Selector (Hox) Genes in Drosophila 492
    Hox Genes and Human Genetic Disorders 493
    Control of Hox Gene Expression 495
    19.6 Cascades of Gene Action Control Differentiation 495
    19.7 Plants Have Evolved Systems That Parallel the Hox Genes of Animals 496
    Homeotic Genes in Arabidopsis 496
    Evolutionary Divergence in Homeotic Genes 498
    19.8 Cell–Cell Interactions in Development Are Modeled in C. elegans 498
    Signaling Pathways in Development 498
    The Notch Signaling Pathway 499
    Overview of C. elegans Development 499
    Genetic Analysis of Vulva Formation 500
    Notch Signaling Systems in Humans 501
    19.9 Transcriptional Networks Control Gene Expression in Development 502
    A General Model of a Transcription Network 502
    Transcriptional Networks in Drosophila Segmentation 502
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Stem Cell Wars 505
    EXPLORING GENOMICS
    Gene Collections for Model Organisms 506
    Chapter Summary 506
    Insights and Solutions 507
    Problems and Discussion Questions 508
    Extra-Spicy Problems 509
    20 Cancer and Regulation of the Cell Cycle 511
    20.1 Cancer Is a Genetic Disease That Arises at the Level of Somatic Cells 512
    What Is Cancer? 512
    The Clonal Origin of Cancer Cells 513
    Cancer As a Multistep Process, Requiring Multiple Mutations 513
    20.2 Cancer Cells Contain Genetic Defects Affecting Genomic Stability, DNA Repair, and Chromatin Modifications 514
    Genomic Instability and Defective DNA Repair 514
    Chromatin Modifications and Cancer Epigenetics 515
    20.3 Cancer Cells Contain Genetic Defects Affecting Cell-Cycle Regulation 516
    The Cell Cycle and Signal Transduction 516
    Cell-Cycle Control and Checkpoints 516
    Control of Apoptosis 517
    20.4 Many Cancer-Causing Genes Disrupt Control of the Cell Cycle 518
    The ras Proto-oncogenes 519
    The cyclin D1 and cyclin E Proto-oncogenes 520
    The p53 Tumor-suppressor Gene 520
    The RB1 Tumor-suppressor Gene 521
    20.5 Cancer Cells Metastasize, Invading Other Tissues 522
    20.6 Predisposition to Some Cancers Can Be Inherited 522
    20.7 Viruses Contribute to Cancer in Both Humans and Animals 524
    20.8 Environmental Agents Contribute to Human Cancers 525
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Cancer in the Cross-Hairs: Taking Aim with Targeted Therapies 526
    EXPLORING GENOMICS
    The Cancer Genome Anatomy Project (CGAP) 527
    Chapter Summary 527
    Insights and Solutions 528
    Problems and Discussion Questions 529
    Extra-Spicy Problems 530
    PART FOUR GENOMICS
    21 Genomics, Bioinformatics, and Proteomics 531
    21.1 Whole-Genome Shotgun Sequencing Is a Widely Used Method for Sequencing and Assembling Entire Genomes 532
    High-Throughput Sequencing 533
    The Clone-by-Clone Approach 534
    Draft Sequences and Checking for Errors 536
    21.2 DNA Sequence Analysis Relies on Bioinformatics Applications and Genome Databases 536
    Annotation to Identify Gene Sequences 537
    Hallmark Characteristics of a Gene Sequence Can Be Recognized During Annotation 537
    21.3 Functional Genomics Attempts to Identify Potential Functions of Genes and Other Elements in a Genome 540
    Predicting Gene and Protein Functions by Sequence Analysis 540
    Predicting Function from Structural Analysis of Protein Domains and Motifs 541
    21.4 The Human Genome Project Reveals Many Important Aspects of Genome Organization in Humans 541
    Origins of the Project 541
    Major Features of the Human Genome 542
    21.5 The “Omics” Revolution Has Created a New Era of Biological Research Methods 545
    21.6 Prokaryotic and Eukaryotic Genomes Display Common Structural and Functional Features and Important Differences 545
    Unexpected Features of Prokaryotic Genomes 546
    Organizational Patterns of Eukaryotic Genomes 548
    The Yeast Genome 549
    Plant Genomes 549
    The Minimum Genome for Living Cells 549
    21.7 Comparative Genomics Analyzes and Compares Genomes from Different Organisms 550
    The Dog as a Model Organism 550
    The Chimpanzee Genome 551
    The Rhesus Monkey Genome 552
    The Sea Urchin Genome 552
    Evolution and Function of Multigene Families 553
    21.8 Metagenomics Applies Genomics Techniques to Environmental Samples 555
    21.9 Transcriptome Analysis Reveals Profiles of Expressed Genes in Cells and Tissues 556
    21.10 Proteomics Identifies and Analyzes the Protein Composition of Cells 559
    Reconciling the Number of Genes and the Number of Proteins Expressed by a Cell or Tissue 560
    Proteomics Technologies: Two-Dimensional Gel Electrophoresis for Separating Proteins 560
    Proteomics Technologies: Mass Spectrometry for Protein Identification 561
    Identification of Collagen in Tyrannosaurus rex and Mammut americanum Fossils 563
    Environment-Induced Changes in the M. genitalium Proteome 564
    21.11 Systems Biology Is an Integrated Approach to Studying Interactions of All Components of an Organism’s Cells 565
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Personalized Genome Projects and the Quest for the $1000 Genome 567
    EXPLORING GENOMICS
    Contigs, Shotgun Sequencing, and Comparative Genomics 568
    Chapter Summary 569
    Insights and Solutions 570
    Problems and Discussion Questions 571
    Extra-Spicy Problems 573
    22 Genome Dynamics: Transposons, Immunogenetics, and Eukaryotic Viruses 574
    22.1 Transposable Elements Are Present in the Genomes of Both Prokaryotes and Eukaryotes 575
    Insertion Sequences 575
    Bacterial Transposons 576
    The Ac–Ds System in Maize 577
    Mobile Genetic Elements in Peas: Mendel Revisited 578
    Copia Elements in Drosophila 578
    P Element Transposons in Drosophila 579
    Transposable Elements in Humans 579
    22.2 Transposons Use Two Different Methods to Move Within Genomes 579
    DNA Transposons and Transposition 580
    Retrotransposons and Transposition 580
    22.3 Transposons Create Mutations and Provide Raw Material for Evolution 583
    Transposon Silencing 583
    Transposons, Mutations, and Gene Expression 583
    Transposons and Evolution 585
    22.4 Immunoglobulin Genes Undergo Programmed Genome Rearrangements 585
    The Immune System and Antibody Diversity 585
    CONTENTS xvii
    Immunoglobulin and TCR structure 586
    The Generation of Antibody Diversity and Class Switching 587
    22.5 Eukaryotic Viruses Shuttle Genes Within and Between Genomes 589
    22.6 Retroviruses Move Genes In and Out of Genomes and Alter Host Gene Expression 589
    The Retroviral Life Cycle 590
    Retroviral Repercussions for Genome Rearrangement 592
    22.7 Large DNA Viruses Gain Genes by Recombining with Other Host and Viral Genomes 594
    Gene Transfer between Cellular and Viral Genomes 594
    Gene Transfer between Viruses 596
    22.8 RNA Viruses Acquire Host Genes and Evolve New Forms 596
    The Life Cycle of RNA Viruses 597
    Gene Transfer and Genome Variability in RNA Viruses 598
    EXPLORING GENOMICS
    Avian Influenza Information and Databases 600
    Chapter Summary 601
    Insights and Solutions 601
    Problems and Discussion Questions 602
    Extra-Spicy Problems 603
    23 Genomic Analysis—Dissection of Gene Function 605
    23.1 Geneticists Use Model Organisms to Answer Genetic and Genomic Questions 606
    Features of Genetic Model Organisms 606
    Yeast as a Genetic Model Organism 606
    Drosophila as a Genetic Model Organism 609
    The Mouse as a Genetic Model Organism 611
    23.2 Geneticists Dissect Gene Function Using Mutations and Forward Genetics 612
    Generating Mutants with Radiation, Chemicals, and Transposon Insertion 612
    Screening for Mutants 612
    Selecting for Mutants 614
    Defining the Genes 614
    Dissecting Genetic Networks and Pathways 615
    Extending the Analysis: Suppressors and Enhancers 616
    Extending the Analysis: Cloning the Genes 617
    Extending the Analysis: Gene Product Functions 617
    23.3 Geneticists Dissect Gene Function Using Genomics and Reverse Genetics 618
    Genetic Analysis Beginning with a Purified Protein 618
    Genetic Analysis Beginning with a Mutant Model Organism 619
    Genetic Analysis Beginning with the Cloned Gene or DNA Sequence 620
    Genetic Analysis Using Gene-Targeting Technologies 622
    23.4 Geneticists Dissect Gene Function Using RNAi, Functional Genomic, and Systems Biology Technologies 625
    RNAi: Genetics without Mutations 625
    High-Throughput and Functional Genomics Techniques 626
    Systems Biology and Gene Networks 627
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Whose DNA Is It, Anyway? 627
    EXPLORING GENOMICS
    The Knockout Mouse Project 628
    Chapter Summary 629
    Insights and Solutions 630
    Problems and Discussion Questions 631
    Extra-Spicy Problems 632
    24 Applications and Ethics of Genetic Engineering and Biotechnology 633
    24.1 Genetically Engineered Organisms Synthesize a Wide Range of Biological and Pharmaceutical Products 634
    Insulin Production in Bacteria 634
    Transgenic Animal Hosts and Pharmaceutical Products 635
    Recombinant DNA Approaches for Vaccine Production and Transgenic Plants with Edible Vaccines 637
    24.2 Genetic Engineering of Plants Has Revolutionized Agriculture 638
    Transgenic Crops for Herbicide and Pest Resistance 639
    Nutritional Enhancement of Crop Plants 641
    24.3 Transgenic Animals with Genetically Enhanced Characteristics Have the Potential to Serve Important Roles in Agriculture and Biotechnology 641
    24.4 Genetic Engineering and Genomics Are Transforming Medical Diagnosis 643
    Genetic Tests Based on Restriction Enzyme Analysis 643
    Genetic Tests Using Allele-Specific Oligonucleotides 644
    Genetic Testing Using DNA Microarrays and Genome Scans 646
    Genetic Analysis Using Gene Expression Microarrays 648
    Application of Microarrays for Gene Expression and Genotype Analysis of Pathogens 650
    24.5 Genetic Engineering and Genomics Promise New, More Targeted Medical Therapies 652
    Pharmacogenomics and Rational Drug Design 652
    Gene Therapy 653
    24.6 DNA Profiles Help Identify Individuals 656
    DNA Profiling Based on DNA Minisatellites (VNTRs) 656
    DNA Profiling Based on DNA Microsatellites 657
    Terrorism and Natural Disasters Force Development of New Technologies 658
    Forensic Applications of DNA Profiling 658
    24.7 Genetic Engineering, Genomics, and Biotechnology Create Ethical, Social, and Legal Questions 659
    Concerns about Genetically Modified Organisms and GM Foods 659
    Genetic Testing and Ethical Dilemmas 659
    The Ethical Concerns Surrounding Gene Therapy 660
    The Ethical, Legal, and Social Implications (ELSI) Program 660
    DNA and Gene Patents 660
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Gene Therapy—Two Steps Forward or Two Steps Back? 661
    EXPLORING GENOMICS
    Genomics Applications to Identify Gene Expression Signatures of Breast Cancer 662
    Chapter Summary 663
    Insights and Solutions 663
    Problems and Discussion Questions 664
    Extra-Spicy Problems 666
    PART FIVE GENETICS O F ORGANISMSAND POPULATION
    25 Quantitative Genetics and Multifactorial Traits 668
    25.1 Not All Polygenic Traits Show Continuous Variation 669
    25.2 Quantitative Traits Can Be Explained in Mendelian Terms 670
    The Multiple-Gene Hypothesis for Quantitative Inheritance 670
    Additive Alleles: The Basis of Continuous Variation 671
    Calculating the Number of Polygenes 671
    25.3 The Study of Polygenic Traits Relies on Statistical Analysis 672
    The Mean 672
    Variance 673
    Standard Deviation 673
    Standard Error of the Mean 673
    Covariance 673
    Analysis of a Quantitative Character 674
    25.4 Heritability Values Estimate the Genetic Contribution to Phenotypic Variability 674
    Broad-Sense Heritability 675
    Narrow-Sense Heritability 676
    Artificial Selection 676
    25.5 Twin Studies Allow an Estimation of Heritability in Humans 678
    25.6 Quantitative Trait Loci Can Be Mapped 678
    GENETICS, TECHNOLOGY, AND SOCIET Y
    The Green Revolution Revisited: Genetic Research with Rice 680
    EXPLORING GENOMICS
    ALFRED and Quantitative Trait Loci (QTLs) 681
    Chapter Summary 682
    Insights and Solutions 682
    CONTENTS xix
    Problems and Discussion Questions 683
    Extra-Spicy Problems 685
    26 Genetics and Behavior 688
    26.1 Behavioral Differences Between Genetic Strains Can Be Identified 689
    Inbred Mouse Strains: Differences in Alcohol Preference 690
    Emotional Behavior Differences in Inbred Mouse Strains 690
    26.2 Artificial Selection Can Establish Genetic Strains with Behavioral Differences 692
    Maze Learning in Rats 692
    Artificial Selection for Geotaxis in Drosophila 693
    26.3 Drosophila Is a Model Organism for Behavior Genetics 694
    Genetic Control of Courtship 695
    Dissecting Behavior with Genetic Mosaics 695
    Functional Analysis of the Nervous System 699
    Drosophila Can Learn and Remember 700
    26.4 Human Behavior Has Genetic Components 701
    Single Genes and Behavior: Huntington Disease 701
    A Transgenic Mouse Model of Huntington Disease 701
    Mechanisms of Huntington Disease 702
    Multifactorial Behavioral Traits: Schizophrenia 702
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Genetics of Sexual Orientation 704
    EXPLORING GENOMICS
    HomoloGene: Searching for Behavioral Genes 705
    Chapter Summary 706
    Insights and Solutions 706
    Problems and Discussion Questions 707
    Extra-Spicy Problems 708
    27 Population Genetics 710
    27.1 Allele Frequencies in Population Gene Pools Vary in Space and Time 711
    27.2 The Hardy–Weinberg Law Describes the Relationship between Allele Frequencies and Genotype Frequencies in an Ideal Population 711
    27.3 The Hardy–Weinberg Law Can Be Applied to Human Populations 713
    Calculating an Allele’s Frequency 713
    Testing for Hardy–Weinberg Equilibrium 715
    27.4 The Hardy–Weinberg Law Can Be Used to Study Multiple Alleles, X-Linked Traits,and Heterozygote Frequencies 716
    Calculating Frequencies for Multiple Alleles in Hardy–Weinberg Populations 716
    Calculating Frequencies for X-linked Traits 716
    Calculating Heterozygote Frequency 717
    27.5 Natural Selection Is a Major Force Driving Allele Frequency Change 718
    Natural Selection 718
    Fitness and Selection 718
    Selection in Natural Populations 720
    Natural Selection and Quantitative Traits 721
    27.6 Mutation Creates New Alleles in a Gene Pool 722
    27.7 Migration and Gene Flow Can Alter Allele Frequencies 724
    27.8 Genetic Drift Causes Random Changes in Allele Frequency in Small Populations 726
    Founder Effects in Human Populations 726
    Allele Loss during a Bottleneck 727
    27.9 Nonrandom Mating Changes Genotype Frequency but Not Allele Frequency 728
    Coefficient of Inbreeding 728
    Outcomes of Inbreeding 729
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Tracking Our Genetic Footprints out of Africa 731
    EXPLORING GENOMICS
    Single-Nucleotide Polymorphisms (SNPs) and the Y Chromosome Haplotype Reference Database (YHRD) 732
    Chapter Summary 733
    Insights and Solutions 733
    Problems and Discussion Questions 734
    Extra-Spicy Problems 735
    28 Evolutionary Genetics 737
    28.1 Speciation Can Occur by Transformation or by Splitting Gene Pools 738
    28.2 Most Populations and Species Harbor Considerable Genetic Variation 739
    Artificial Selection 739
    Variations in Amino Acid Sequence 740
    Variations in Nucleotide Sequence 740
    Explaining the High Level of Genetic Variation in Populations 741
    28.3 The Genetic Structure of Populations Changes across Space and Time 742
    28.4 Defining a Species Is a Challenge for Evolutionary Biology 744
    28.5 Reduced Gene Flow, Selection, and Genetic Drift Can Lead to Speciation 745
    Examples of Speciation 746
    The Minimum Genetic Divergence for Speciation 747
    The Rate of Speciation 748
    28.6 Genetic Differences Can Be Used to Reconstruct Evolutionary History 750
    Constructing Evolutionary Trees from Genetic Data 750
    Molecular Clocks 752
    28.7 Reconstructing Evolutionary History Allows Us to Answer Many Questions 753
    Transmission of HIV 753
    Neanderthals and Modern Humans 754
    Neanderthal Genomics 754
    GENETICS, TECHNOLOGY, AND SOCIET Y
    What Can We Learn from the Failure of the Eugenics Movement? 756
    EXPLORING GENOMICS
    ClustalW and Phylogenetic Analysis 757
    Chapter Summary 758
    Insights and Solutions 758
    Problems and Discussion Questions 759
    Extra-Spicy Problems 759
    29 Conservation Genetics 762
    29.1 Genetic Diversity Is the Goal of Conservation Genetics 764
    Loss of Genetic Diversity 765
    Identifying Genetic Diversity 765
    29.2 Population Size Has a Major Impact on Species Survival 766
    29.3 Genetic Effects Are More Pronounced in Small, Isolated Populations 768
    Genetic Drift 768
    Inbreeding 768
    Reduction in Gene Flow 769
    29.4 Genetic Erosion Threatens Species’ Survival 770
    29.5 Conservation of Genetic Diversity Is Essential to Species Survival 771
    Ex Situ Conservation: Captive Breeding 771
    Rescue of the Black-Footed Ferret through Captive Breeding 772
    Ex Situ Conservation and Gene Banks 772
    In Situ Conservation 773
    Population Augmentation 773
    GENETICS, TECHNOLOGY, AND SOCIET Y
    Gene Pools and Endangered Species: The Plight of the Florida Panther 774
    EXPLORING GENOMICS
    PopSet: Examining the Genomes of Endangered Species 775
    Chapter Summary 776
    Insights and Solutions 777
    Problems and Discussion Questions 777
    Extra-Spicy Problems 778
    Appendix A Glossary A-1
    Appendix B Answers to Selected Problems A-18
    Appendix C Selected Readings A-57
    Credits C-1
    Index I-1
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