Principles of Genetics
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1 Principles of Genetics Snustad, D ISBN-13: Table of Contents C H A P T E R 1 The Science of Genetics 1 An Invitation 2 Three Great Milestones in Genetics 2 DNA as the Genetic Material 6 Genetics and Evolution 10 Levels of Genetic Analysis 11 Genetics in the World: Applications of Genetics to Human Endeavors 12 C H A P T E R 2 Cellular Reproduction 18 Cells and Chromosomes 19 Mitosis 24 Meiosis 27 Life Cycles of Some Model Genetic Organisms 32 C H A P T E R 3 Mendelism: The Basic Principles of Inheritance 40 Mendel s Study of Heredity 41 Applications of Mendel s Principles 46 Testing Genetic Hypotheses 48 Mendelian Principles in Human Genetics 52 C H A P T E R 4 Extensions of Mendelism 62 Allelic Variation and Gene Function 63 Gene Action: From Genotype to Phenotype 70 Inbreeding: Another Look at Pedigrees 77 C H A P T E R 5 The Chromosomal Basis of Mendelism 89 Chromosomes 90 The Chromosome Theory of Heredity 92 Sex-Linked Genes in Humans 98 Sex Chromosomes and Sex Determination 100
2 Dosage Compensation of X-Linked Genes 104 C H A P T E R 6 Variation in Chromosome Number and Structure 110 Cytological Techniques 111 Polyploidy 115 Aneuploidy 119 Rearrangements of Chromosome Structure 126 C H A P T E R 7 Linkage, Crossing Over, and Chromosome Mapping in Eukaryotes 135 Linkage, Recombination, and Crossing Over 136 Chromosome Mapping 141 Cytogenetic Mapping 148 Linkage Analysis in Humans 150 Recombination and Evolution 153 C H A P T E R 8 The Genetics of Bacteria and Their Viruses 163 Viruses and Bacteria in Genetics 164 The Genetics of Viruses 165 The Genetics of Bacteria 169 Mechanisms of Genetic Exchange in Bacteria 172 The Evolutionary Significance of Genetic Exchange in Bacteria 186 C H A P T E R 9 DNA and the Molecular Structure of Chromosomes 192 Functions of the Genetic Material 193 Proof That Genetic Information Is Stored in DNA 193 The Structures of DNA and RNA 197 Chromosome Structure in Prokaryotes and Viruses 205 Chromosome Structure in Eukaryotes 207 C H A P T E R 1 0 Replication of DNA and Chromosomes 220 Basic Features of DNA Replication In Vivo 221 DNA Replication in Prokaryotes 231 Unique Aspects of Eukaryotic Chromosome Replication 244 C H A P T E R 1 1 Transcription and RNA Processing 256 Transfer of Genetic Information: The Central Dogma 257 The Process of Gene Expression 259 Transcription in Prokaryotes 263
3 Transcription and RNA Processing in Eukaryotes 267 Interrupted Genes in Eukaryotes: Exons and Introns 274 Removal of Intron Sequences by RNA Splicing 277 C H A P T E R 1 2 Translation and the Genetic Code 285 Protein Structure 286 One Gene One Colinear Polypeptide 289 Protein Synthesis: Translation 293 The Genetic Code 306 Codon-tRNA Interactions 312 C H A P T E R 1 3 Mutation, DNA Repair, and Recombination 320 Mutation: Source of the Genetic Variability Required for Evolution 321 The Molecular Basis of Mutation 321 Mutation: Basic Features of the Process 332 Mutation: Phenotypic Effects 337 Assigning Mutations to Genes by the Complementation Test 342 Screening Chemicals for Mutagenicity: The Ames Test 346 DNA Repair Mechanisms 348 Inherited Human Diseases with Defects in DNA Repair 351 DNA Recombination Mechanisms 354 C H A P T E R 1 4 The Techniques of Molecular Genetics 366 Basic Techniques Used to Identify, Amplify, and Clone Genes 367 Construction and Screening of DNA Libraries 377 The Molecular Analysis of DNA, RNA, and Protein 380 The Molecular Analysis of Genes and Chromosomes 386 C H A P T E R 1 5 Genomics 397 Genomics: An Overview 402 Correlated Genetic, Cytological, and Physical Maps of Chromosomes 402 Map Position-Based Cloning of Genes 407 The Human Genome Project 409 RNA and Protein Assays of Genome Function 415 Comparative Genomics 420 C H A P T E R 1 6 Applications of Molecular Genetics 439 Use of Recombinant DNA Technology to Identify Human Genes and Diagnose Human Diseases 440
4 Molecular Diagnosis of Human Diseases 448 Human Gene Therapy 450 DNA Profiling 455 Production of Eukaryotic Proteins in Bacteria 461 Transgenic Plants and Animals 463 Reverse Genetics: Dissecting Biological Processes by Inhibiting Gene Expression 467 C H A P T E R 1 7 Transposable Genetic Elements 477 Transposable Elements: An Overview 478 Transposable Elements in Bacteria 479 Cut-and-Paste Transposons in Eukaryotes 483 Retroviruses and Retrotransposons 488 Transposable Elements in Humans 494 The Genetic and Evolutionary Significance of Transposable Elements 496 C H A P T E R 1 8 Regulation of Gene Expression in Prokaryotes 504 Constitutive, Inducible, and Repressible Gene Expression 506 Positive and Negative Control of Gene Expression 507 Operons: Coordinately Regulated Units of Gene Expression 509 The Lactose Operon in E. coli: Induction and Catabolite Repression 511 The Tryptophan Operon in E. coli: Repression and Attenuation 519 Translational Control of Gene Expression 525 Posttranslational Regulatory Mechanisms 526 C H A P T E R 1 9 Regulation of Gene Expression in Eukaryotes 531 Ways of Regulating Eukaryotic Gene Expression: An Overview 532 Induction of Transcriptional Activity by Environmental and Biological Factors 534 Molecular Control of Transcription in Eukaryotes 537 Posttranscriptional Regulation of Gene Expression by RNA Interference 541 Gene Expression and Chromatin Organization 544 Activation and Inactivation of Whole Chromosomes 550 C H A P T E R 2 0 The Genetic Control of Animal Development 558 A Genetic Perspective on Development 559 Maternal Gene Activity in Development 561 Genetic Analysis of Development in Vertebrates 571
5 C H A P T E R 2 1 The Genetic Basis of Cancer 581 Cancer: A Genetic Disease 582 Oncogenes 585 Tumor Suppressor Genes 590 Genetic Pathways to Cancer 600 C H A P T E R 2 2 Inheritance of Complex Traits 607 Complex Traits 608 Statistics of Quantitative Genetics 611 Analysis of Quantitative Traits 613 Correlations Between Relatives 624 Quantitative Genetics of Human Behavioral Traits 628 C H A P T E R 2 3 Population Genetics 634 The Theory of Allele Frequencies 635 Natural Selection 641 Random Genetic Drift 645 Populations in Genetic Equilibrium 647 C H A P T E R 2 4 Evolutionary Genetics 656 The Emergence of Evolutionary Theory 657 Genetic Variation in Natural Populations 659 Molecular Evolution 662 Speciation 672 Human Evolution 676 Appendices Appendix A: The Rules of Probability 685 Appendix B: Binomial Probabilities 687 Appendix C: In Situ Hybridization 689 Appendix D: Evidence for an Unstable Messenger RNA 691 Appendix E: Evolutionary Rates 693 Answers to Odd-Numbered Questions and Problems 697 Glossary 720 Photo Credits 743 Illustration Credits 745 Index 746
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