Jones and Bartlett Publishers Genetics: Analysis of Genes and Genomes, Seventh Edition Daniel L. Hartl and Elizabeth W. Jones BRIEF CONTENTS Preface Acknowledgements About the Authors In Memoriam About the Cover xv xxiii xxvi xxvii xxviii 1 Genes, Genomes, and Genetic Analysis 1 2 DNA Structure and Genetic Variation 38 3 Transmission Genetics: The Principle of Segregation 77 4 Chromosomes and Sex-Chromosome Inheritance 114 5 Genetic Linkage and Chromosome Mapping 150 6 Molecular Biology of DNA Replication and Recombination 190 7 Molecular Organization of Chromosomes 221 8 Human Karyotypes and Chromosome Behavior 251 9 Genetics of Bacteria and Their Viruses 295 10 Molecular Biology of Gene Expression 341 11 Molecular Mechanisms of Gene Regulation 380 12 Genomics, Proteomics, and Transgenics 431 13 Genetic Control of Development 471 14 Molecular Mechanisms of Mutation and DNA Repair 509 15 Molecular Genetics of the Cell Cycle and Cancer 551 16 Mitochondrial DNA and Extranuclear Inheritance 587 17 Molecular Evolution and Population Genetics 611 18 The Genetic Basis of Complex Traits 651 Answers to Even-Numbered Problems Further Readings Word Roots Concise Dictionary of Genetics Index 683 701 705 709 735 (FULL TABLE OF CONTENTS ON REVERSE) © 2009 Jones and Bartlett Publishers, LLC 08/12/08 FULL CONTENTS 1 Genes, Genomes, and Genetic Analysis 1.1 DNA: The Genetic Material 1.2 DNA Structure and Replication 1.3 Genes and Proteins 1.4 Genetic Analysis 1.5 Gene Expression: The Central Dogma 1.6 Mutation 1.7 Genes and Environment 1.8 The Molecular Unity of Life 2 DNA Structure and Genetic Variation 2.1 Genetic Differences Among Individuals 2.2 The Molecular Structure of DNA 2.3 The Separation and Identification of Genomic DNA Fragments 2.4 Selective Replication of Genomic DNA Fragments 2.5 The Terminology of Genetic Analysis 2.6 Types of DNA Markers Present in Genomic DNA 2.7 Applications of DNA Markers 3 Transmission Genetics: The Principle of Segregation 3.1 Morphological and Molecular Phenotypes 3.2 Segregation of a Single Gene 3.3 Segregation of Two or More Genes 3.4 Probability in Genetic Analysis 3.5 Human Pedigree Analysis 3.6 Incomplete Dominance and Epistasis 4 Chromosomes and Sex-Chromosome Inheritance 1 2 6 10 14 21 26 28 29 38 39 40 47 55 60 62 68 77 78 80 87 90 97 101 114 4.1 The Stability of Chromosome Complements 4.2 Mitosis 4.3 Meiosis 4.4 Sex-Chromosome Inheritance 4.5 Probability in the Prediction of Progeny Distributions 4.6 Testing Goodness of Fit to a Genetic Hypothesis 115 116 119 128 136 139 5 Genetic Linkage and Chromosome Mapping 150 5.1 Linkage and Recombination of Genes in a Chromosome 5.2 Genetic Mapping Chromosomes 5.3 Genetic Mapping in a Three-Point Testcross 5.4 Genetic Mapping in Human Pedigrees 5.5 Mapping by Tetrad Analysis 5.6 Special Features of Recombination 6 Molecular Biology of DNA Replication and Recombination 6.1 Problems of Initiation, Elongation, and Incorporation Error 6.2 Semiconservative Replication of Double-Stranded DNA 6.3 Unwinding, Stabilization, and Stress Relief 6.4 Initiation by a Primosome Complex 6.5 Chain Elongation and Proofreading 6.6 Discontinuous Replication of the Lagging Strand 6.7 Terminator Sequencing of DNA 6.8 Molecular Mechanisms of Recombination 7 Molecular Organization of Chromosomes 7.1 Genome Size and Evolutionary Complexity: The C-Value Paradox 7.2 The Supercoiling of DNA 7.3 The Structure of Bacterial Chromosomes 7.4 The Structure of Eukaryotic Chromosomes 7.5 Polytene Chromosomes 7.6 Repetitive Nucleotide Sequences in Eukaryotic Genomes 7.7 Unique and Repetitive Sequences in Eukaryotic Genomes 7.8 Molecular Structure of the Centromere 7.9 Molecular Structure of the Telomere 8 Human Karyotypes and Chromosome Behavior 8.1 The Human Karyotype 8.2 Chromosome Abnormalities in Human Pregnancies 8.3 Chromosomal Deletions and Duplications 8.4 Genetics of Chromosomal Inversions 8.5 Chromosomal Translocations 8.6 Genomic Position Effects on Gene Expression 8.7 Polyploidy in Plant Evolution 8.8 Genome Evolution in the Grass Family (Gramineae) 9 Genetics of Bacteria and Their Viruses 9.1 Mobile DNA 9.2 Bacterial Genetics 9.3 DNA-Mediated Transformation 9.4 Conjugation 9.5 Transduction © 2009 Jones and Bartlett Publishers, LLC 151 155 159 166 170 173 180 190 191 192 200 201 202 204 207 210 221 222 223 226 226 232 232 237 239 241 251 252 264 269 275 277 282 284 289 295 296 302 303 305 312 9.6 Bacteriophage Genetics 9.7 Lysogeny and Specialized Transduction 10 Molecular Biology of Gene Expression 10.1 Amino Acids, Polypeptides, and Proteins 10.2 Colinearity Between Coding Sequences and Polypeptides 10.3 Transcription 10.4 Messenger RNA 10.5 RNA Processing in Eukaryotes 10.6 Translation 10.7 Complex Translation Units 10.8 The Standard Genetic Code 316 325 341 342 344 344 350 352 358 366 368 11 Molecular Mechanisms of Gene Regulation 380 11.1 Transcriptional Regulation in Prokaryotes 11.2 The Operon System of Gene Regulation 11.3 Regulation Through Transcription Termination 11.4 Regulation in Bacteriophage Lambda 11.5 Transcriptional Regulation in Eukaryotes 11.6 Epigenetic Mechanims of Transcriptional Regulation 11.7 Regulation Through RNA Processing and Decay 11.8 RNA Interference 11.9 Translational Control 11.10 Programmed DNA Rearrangements 381 383 392 396 398 409 413 414 417 419 12 Genomics, Proteomics, and Transgenics 431 12.1 Site-Specific DNA Cleavage and Cloning Vectors 12.2 Cloning Strategies 12.3 Detection of Recombinant Molecules 12.4 Genomics and Proteomics 12.5 Transgenic Organisms 12.6 Some Applications of Genetic Engineering 432 436 440 443 454 461 13 Genetic Control of Development 13.1 Genetic Determinants of Development 13.2 Early Embryonic Development in Animals 13.3 Genetic Analysis of Development in the Nematode 13.4 Genetic Control of Development in Drosophila 13.5 Genetic Control of Development in Higher Plants 14 Molecular Mechanisms of Mutation and DNA Repair 14.1 Types of Mutations 14.2 The Molecular Basis of Mutation 14.3 Transposable Elements 14.4 Spontaneous Mutation 14.5 Mutagens 14.6 Mechanisms of DNA Repair 14.7 Reverse Mutations and Suppressor Mutations 15 Molecular Genetics of the Cell Cycle and Cancer 15.1 The Cell Cycle 15.2 Genetic Analysis of the Cell Cycle 15.3 Progression Through the Cell Cycle 15.4 Checkpoints in the Cell Cycle 15.5 Cancer Cells 15.6 Hereditary Cancer Syndromes 15.7 Genetics of the Acute Leukemias 16 Mitochondrial DNA and Extranuclear Inheritance 16.1 Patterns of Extranuclear Inheritance 16.2 Organelle Heredity 16.3 The Evolutionary Origin of Organelles 16.4 Cytoplasmic Transmission of Symbionts 16.5 Maternal Effect in Snail Shell Coiling 471 472 472 477 485 500 509 510 512 520 525 529 537 543 551 552 554 557 562 569 575 578 587 588 592 600 601 603 17 Molecular Evolution and Population Genetics 611 17.1 Molecular Evolution 17.2 Population Genetics 17.3 Inbreeding 17.4 Genetics and Evolution 17.5 Mutation and Migration 17.6 Natural Selection 17.7 Random Genetic Drift 17.8 Tracing Human History Through Mitochondrial DNA 612 618 627 632 633 634 639 643 18 The Genetic Basis of Complex Traits 18.1 Complex Traits 18.2 Causes of Variation 18.3 Genetic Analysis of Complex Traits 18.4 Artificial Selection 18.5 Correlation Between Relatives 18.6 Heritabilities of Threshold Traits 18.7 Identification of Genes Affecting Complex Traits 651 652 655 660 663 667 669 670 08/12/08