BOOK
Genetic Analysis: An Integrated Approach, Global Edition
Mark F. Sanders | John L. Bowman
(2016)
Additional Information
Book Details
Abstract
For all introductory genetics courses
Informed by many years of genetics teaching and research expertise, authors Mark Sanders and John Bowman use an integrated approach that helps contextualize three core challenges of learning genetics: solving problems, understanding evolution, and understanding the connection between traditional genetics models and more modern approaches.
Genetic Analysis: An Integrated Approach, 2/e is extensively updated with relevant, cutting-edge coverage of modern genetics and is supported by MasteringGenetics, the most widely-used homework and assessment program in genetics. Featuring expanded assignment options, MasteringGenetics complements the book’s problem-solving approach, engages students, and improves results by helping them master concepts and problem-solving skills.
MasteringGenetics is not included. Students, if MasteringGenetics is a recommended/mandatory component of the course, please ask your instructor for the correct ISBN and course ID. MasteringGenetics should only be purchased when required by an instructor. Instructors, contact your Pearson representative for more information.
MasteringGenetics is an online homework, tutorial, and assessment program designed to work with this text to engage students and improve results. Interactive, self-paced tutorials provide individualized coaching to help students stay on track. With a wide range of activities available, students can actively learn, understand, and retain even the most difficult concepts.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Cover | Cover | ||
| Brief Table of Contents | IFC-1 | ||
| Title Page | 9 | ||
| Copyright Page | 10 | ||
| Table of Contents | 11 | ||
| Chapter 1 The Molecular Basis of Heredity, Variation, and Evolution | 33 | ||
| 1.1 Modern Genetics Is in Its Second Century | 34 | ||
| The First Century of Modern Genetics | 34 | ||
| Genetics—Central to Modern Biology | 36 | ||
| 1.2 The Structure of DNA Suggests a Mechanism for Replication | 38 | ||
| The Discovery of DNA Structure | 38 | ||
| DNA Nucleotides | 39 | ||
| DNA Replication | 40 | ||
| 1.3 DNA Transcription and Messenger RNA Translation Express Genes | 41 | ||
| Genetic Analysis 1.1 | 42 | ||
| Transcription | 42 | ||
| Experimental Insight 1.1 | 43 | ||
| Translation | 44 | ||
| Genomes, Proteomes, and “-omic” Approaches | 45 | ||
| Genetic Analysis 1.2 | 46 | ||
| 1.4 Evolution Has a Molecular Basis | 47 | ||
| Darwin’s Theory of Evolution | 48 | ||
| Four Evolutionary Processes | 49 | ||
| Tracing Evolutionary Relationships | 49 | ||
| Genetic Analysis 1.3 | 52 | ||
| Case Study The Modern Human Family | 53 | ||
| Summary | 54 | ||
| Keywords | 55 | ||
| Problems | 56 | ||
| Chapter 2 Transmission Genetics | 58 | ||
| 2.1 Gregor Mendel Discovered the Basic Principles of Genetic Transmission | 59 | ||
| Mendel’s Modern Experimental Approach | 60 | ||
| Five Critical Experimental Innovations | 61 | ||
| 2.2 Monohybrid Crosses Reveal the Segregation of Alleles | 63 | ||
| Identifying Dominant and Recessive Traits | 63 | ||
| Evidence of Particulate Inheritance and Rejection of the Blending Theory | 64 | ||
| Segregation of Alleles | 65 | ||
| Hypothesis Testing by Test-Cross Analysis | 66 | ||
| Hypothesis Testing by F2 Self-Fertilization | 67 | ||
| 2.3 Dihybrid and Trihybrid Crosses Reveal the Independent Assortment of Alleles | 68 | ||
| Dihybrid-Cross Analysis of Two Genes | 68 | ||
| Genetic Analysis 2.1 | 69 | ||
| Testing Independent Assortment by Test-Cross Analysis | 71 | ||
| Genetic Analysis 2.2 | 72 | ||
| Testing Independent Assortment by Trihybrid-Cross Analysis | 73 | ||
| Probability Calculations in Genetics Problem Solving | 74 | ||
| The Rediscovery of Mendel’s Work | 74 | ||
| Genetic Analysis 2.3 | 75 | ||
| Experimental Insight 2.1 | 76 | ||
| 2.4 Probability Theory Predicts Mendelian Ratios | 76 | ||
| The Product Rule | 76 | ||
| Experimental Insight 2.2 | 77 | ||
| The Sum Rule | 77 | ||
| Conditional Probability | 77 | ||
| Experimental Insight 2.3 | 78 | ||
| Binomial Probability | 78 | ||
| 2.5 Chi-Square Analysis Tests the Fit Between Observed Values and Expected Outcomes | 80 | ||
| The Normal Distribution | 80 | ||
| Chi-Square Analysis | 81 | ||
| Chi-Square Analysis of Mendel’s Data | 82 | ||
| 2.6 Autosomal Inheritance and Molecular Genetics Parallel the Predictions of Mendel’s Hereditary Principles | 83 | ||
| Autosomal Dominant Inheritance | 84 | ||
| Autosomal Recessive Inheritance | 85 | ||
| Molecular Genetics of Mendel’s Traits | 86 | ||
| Case Study Inheritance of Sickle Cell Disease in Humans | 88 | ||
| Summary | 89 | ||
| Keywords | 89 | ||
| Problems | 90 | ||
| Chapter 3 Cell Division and Chromosome Heredity | 96 | ||
| 3.1 Mitosis Divides Somatic Cells | 97 | ||
| Stages of the Cell Cycle | 97 | ||
| Substages of M Phase | 98 | ||
| Chromosome Distribution | 99 | ||
| Completion of Cell Division | 100 | ||
| Cell Cycle Checkpoints | 101 | ||
| Cell Cycle Mutations and Cancer | 104 | ||
| 3.2 Meiosis Produces Gametes for Sexual Reproduction | 104 | ||
| Meiosis versus Mitosis | 105 | ||
| Meiosis I | 107 | ||
| Meiosis II | 111 | ||
| The Mechanistic Basis of Mendelian Ratios | 111 | ||
| Segregation in Single-Celled Diploids | 113 | ||
| 3.3 The Chromosome Theory of Heredity Proposes That Genes Are Carried on Chromosomes | 113 | ||
| Genetic Analysis 3.1 | 115 | ||
| X-Linked Inheritance | 116 | ||
| Testing the Chromosome Theory of Heredity | 117 | ||
| 3.4 Sex Determination Is Chromosomal and Genetic | 118 | ||
| Sex Determination in Drosophila | 118 | ||
| Genetic Analysis 3.2 | 119 | ||
| Mammalian Sex Determination | 120 | ||
| Diversity of Sex Determination | 120 | ||
| Experimental Insight 3.1 | 121 | ||
| 3.5 Human Sex-Linked Transmission Follows Distinct Patterns | 122 | ||
| Expression of X-Linked Recessive Traits | 123 | ||
| Genetic Analysis 3.3 | 125 | ||
| X-Linked Dominant Trait Transmission | 126 | ||
| Y-Linked Inheritance | 126 | ||
| 3.6 Dosage Compensation Equalizes the Expression of Sex-Linked Genes | 127 | ||
| Case Study The (Degenerative) Evolution of the Mammalian Y Chromosome | 128 | ||
| Summary | 130 | ||
| Keywords | 131 | ||
| Problems | 131 | ||
| Chapter 4 Inheritance Patterns of Single Genes and Gene Interaction | 136 | ||
| 4.1 Interactions between Alleles Produce Dominance Relationships | 137 | ||
| The Molecular Basis of Dominance | 137 | ||
| Functional Effects of Mutation | 138 | ||
| Incomplete Dominance | 140 | ||
| Codominance | 141 | ||
| Dominance Relationships of ABO Alleles | 141 | ||
| Allelic Series | 143 | ||
| Genetic Analysis 4.1 | 144 | ||
| Lethal Alleles | 145 | ||
| Sex-Limited Traits | 149 | ||
| Sex-Influenced Traits | 149 | ||
| Delayed Age of Onset | 150 | ||
| 4.2 Some Genes Produce Variable Phenotypes | 150 | ||
| Incomplete Penetrance | 150 | ||
| Variable Expressivity | 151 | ||
| Gene–Environment Interactions | 151 | ||
| Pleiotropic Genes | 153 | ||
| 4.3 Gene Interaction Modifies Mendelian Ratios | 153 | ||
| Gene Interaction in Pathways | 153 | ||
| The One Gene–One Enzyme Hypothesis | 156 | ||
| Genetic Dissection to Investigate Gene Action | 157 | ||
| Experimental Insight 4.1 | 157 | ||
| Epistasis and Its Results | 159 | ||
| Genetic Analysis 4.2 | 160 | ||
| 4.4 Complementation Analysis Distinguishes Mutations in the Same Gene from Mutations in Different Genes | 166 | ||
| Genetic Analysis 4.3 | 167 | ||
| Case Study Complementation Groups in a Human Cancer-Prone Disorder | 169 | ||
| Summary | 169 | ||
| Keywords | 170 | ||
| Problems | 170 | ||
| Chapter 5 Genetic Linkage and Mapping in Eukaryotes | 176 | ||
| 5.1 Linked Genes Do Not Assort Independently | 177 | ||
| Indications of Genetic Linkage | 178 | ||
| The Discovery of Genetic Linkage | 180 | ||
| Detecting Autosomal Genetic Linkage Through Test-Cross Analysis | 182 | ||
| Genetic Analysis 5.1 | 184 | ||
| 5.2 Genetic Linkage Mapping Is Based on Recombination Frequency Between Genes | 185 | ||
| The First Genetic Linkage Map | 185 | ||
| Map Units | 186 | ||
| Chi-Square Analysis of Genetic Linkage Data | 186 | ||
| 5.3 Three-Point Test-Cross Analysis Maps Genes | 186 | ||
| Finding the Relative Order of Genes by Three-Point Mapping | 186 | ||
| Constructing a Three-point Recombination Map | 188 | ||
| Determining Gamete Frequencies from Genetic Maps | 191 | ||
| 5.4 Recombination Results from Crossing Over | 192 | ||
| Cytological Evidence of Recombination | 192 | ||
| Limits of Recombination Along Chromosomes | 192 | ||
| Recombination Within Genes | 194 | ||
| Genetic Analysis 5.2 | 195 | ||
| Biological Factors Affecting Accuracy of Genetic Maps | 196 | ||
| Recombination Is Dominated by Hotspots | 196 | ||
| Correction of Genetic Map Distances | 197 | ||
| 5.5 Linked Human Genes Are Mapped Using Lod Score Analysis | 198 | ||
| Allelic Phase | 198 | ||
| Lod Score Analysis | 199 | ||
| Experimental Insight 5.1 | 201 | ||
| Genetic Analysis 5.3 | 202 | ||
| 5.6 Recombination Affects Evolution and Genetic Diversity | 202 | ||
| 5.7 Genetic Linkage in Haploid Eukaryotes Is Identified by Tetrad Analysis | 203 | ||
| Analysis of Unordered Tetrads | 204 | ||
| Ordered Ascus Analysis | 205 | ||
| 5.8 Mitotic Crossover Produces Distinctive Phenotypes | 207 | ||
| Case Study Mapping the Gene for Cystic Fibrosis | 209 | ||
| Summary | 210 | ||
| Keywords | 211 | ||
| Poblems | 212 | ||
| Chapter 6 Genetic Analysis and Mapping in Bacteria and Bacteriophages | 218 | ||
| 6.1 Bacteria Transfer Genes by Conjugation | 219 | ||
| Characteristics of Bacterial Genomes | 220 | ||
| Conjugation Identified | 220 | ||
| Research Technique 6.1 | 221 | ||
| Transfer of the F Factor | 224 | ||
| Formation of an Hfr Chromosome | 226 | ||
| Hfr Gene Transfer | 227 | ||
| 6.2 Interrupted Mating Analysis Produces Time-of-Entry Maps | 229 | ||
| Time-of-Entry Mapping Experiments | 229 | ||
| Consolidation of Hfr Maps | 232 | ||
| Genetic Analysis 6.1 | 234 | ||
| 6.3 Conjugation with F' Strains Produces Partial Diploids | 235 | ||
| Plasmids and Conjugation in Archaea | 236 | ||
| 6.4 Bacterial Transformation Produces Genetic Recombination | 236 | ||
| Genetic Analysis 6.2 | 238 | ||
| Steps in Transformation | 238 | ||
| Mapping by Transformation | 238 | ||
| 6.5 Bacterial Transduction Is Mediated by Bacteriophages | 238 | ||
| Bacteriophage Life Cycles | 239 | ||
| Generalized Transduction | 241 | ||
| Cotransduction | 241 | ||
| Cotransduction Mapping | 242 | ||
| Specialized Transduction | 244 | ||
| 6.6 Bacteriophage Chromosomes Are Mapped by Fine-Structure Analysis | 245 | ||
| Genetic Analysis 6.3 | 246 | ||
| Genetic Complementation Analysis | 247 | ||
| Intragenic Recombination Analysis | 248 | ||
| Deletion-Mapping Analysis | 248 | ||
| 6.7 Lateral Gene Transfer Alters Genomes | 251 | ||
| Lateral Gene Transfer and Genome Evolution | 251 | ||
| Identifying Lateral Gene Transfer in Genomes | 252 | ||
| Case Study The Evolution of Antibiotic Resistance and Change in Medical Practice | 252 | ||
| Summary | 253 | ||
| Keywords | 254 | ||
| Problems | 254 | ||
| Chapter 7 DNA Structure and Replication | 259 | ||
| 7.1 DNA Is the Hereditary Molecule of Life | 260 | ||
| Chromosomes Contain DNA | 260 | ||
| A Transformation Factor Responsible for Heredity | 261 | ||
| DNA Is the Transformation Factor | 262 | ||
| DNA Is the Hereditary Molecule | 262 | ||
| 7.2 The DNA Double Helix Consists of Two Complementary and Antiparallel Strands | 264 | ||
| DNA Nucleotides | 264 | ||
| Genetic Analysis 7.1 | 266 | ||
| Complementary DNA Nucleotide Pairing | 266 | ||
| The Twisting Double Helix | 266 | ||
| 7.3 DNA Replication Is Semiconservative and Bidirectional | 268 | ||
| Three Competing Models of Replication | 268 | ||
| The Meselson-Stahl Experiment | 268 | ||
| Origin and Directionality of Replication in Bacterial DNA | 269 | ||
| Multiple Replication Origins in Eukaryotes | 271 | ||
| 7.4 DNA Replication Precisely Duplicates the Genetic Material | 273 | ||
| DNA Sequences at Replication Origins | 274 | ||
| Replication Initiation | 276 | ||
| Continuous and Discontinuous Strand Replication | 278 | ||
| RNA Primer Removal and Okazaki Fragment Ligation | 279 | ||
| Simultaneous Synthesis of Leading and Lagging Strands | 280 | ||
| DNA Proofreading | 281 | ||
| Finishing Replication | 283 | ||
| Genetic Analysis 7.2 | 285 | ||
| Telomeres, Aging, and Cancer | 286 | ||
| 7.5 Molecular Genetic Analytical Methods Make Use of Dna Replication Processes | 286 | ||
| The Polymerase Chain Reaction | 286 | ||
| Separation of PCR Products | 288 | ||
| Dideoxynucleotide DNA Sequencing | 288 | ||
| New DNA-Sequencing Technologies: Next Generation and Third Generation | 291 | ||
| Genetic Analysis 7.3 | 292 | ||
| Case Study Use of PCR and DNA Sequencing to Analyze Huntington Disease Mutations | 293 | ||
| Summary | 295 | ||
| Keywords | 296 | ||
| Problems | 296 | ||
| Chapter 8 Molecular Biology Of Transcription and RNA Processing | 299 | ||
| 8.1 RNA Transcripts Carry the Messages of Genes | 300 | ||
| RNA Nucleotides and Structure | 300 | ||
| Identification of Messenger RNA | 301 | ||
| RNA Classification | 302 | ||
| 8.2 Bacterial Transcription Is a Four-Stage Process | 303 | ||
| Bacterial RNA Polymerase | 304 | ||
| Bacterial Promoters | 305 | ||
| Transcription Initiation | 305 | ||
| Genetic Analysis 8.1 | 307 | ||
| Transcription Elongation and Termination | 308 | ||
| Transcription Termination Mechanisms | 308 | ||
| 8.3 Archaeal and Eukaryotic Transcription Displays Structural Homology and Common Ancestry | 310 | ||
| Eukaryotic and Archaeal RNA Polymerases | 310 | ||
| Consensus Sequences for Eukaryotic RNA Polymerase II Transcription | 311 | ||
| Research Technique 8.1 | 311 | ||
| Promoter Recognition | 313 | ||
| Detecting Promoter Consensus Elements | 314 | ||
| Enhancers and Silencers | 314 | ||
| RNA Polymerase I Promoters | 315 | ||
| RNA Polymerase III Promoters | 316 | ||
| Termination in RNA Polymerase I or III Transcription | 316 | ||
| Archaeal Transcription | 317 | ||
| 8.4 Post-Transcriptional Processing Modifies RNA Molecules | 317 | ||
| Capping 5' mRNA | 317 | ||
| Polyadenylation of 3' Pre-mRNA | 318 | ||
| The Torpedo Model of Transcription Termination | 319 | ||
| Pre-mRNA Intron Splicing | 319 | ||
| Splicing Signal Sequences | 320 | ||
| Coupling of Pre-mRNA Processing Steps | 321 | ||
| Alternative Transcripts of Single Genes | 322 | ||
| Control of Alternative Splicing | 326 | ||
| Intron Self-Splicing | 326 | ||
| Genetic Analysis 8.2 | 327 | ||
| Ribosomal RNA Processing | 328 | ||
| Transfer RNA Processing | 329 | ||
| Post-Transcriptional RNA Editing | 330 | ||
| Case Study Sexy Splicing: Alternative mRNA Splicing and Sex Determination in Drosophila | 331 | ||
| Summary | 332 | ||
| Keywords | 333 | ||
| Problems | 334 | ||
| Chapter 9 The Molecular Biology of Translation | 337 | ||
| 9.1 Polypeptides Are Composed of Amino Acid Chains That Are Assembled at Ribosomes | 338 | ||
| Amino Acid Structure | 338 | ||
| Polypeptide and Transcript Structure | 339 | ||
| Ribosome Structures | 341 | ||
| Research Technique 9.1 | 342 | ||
| A Three-Dimensional View of the Ribosome | 343 | ||
| 9.2 Translation Occurs in Three Phases | 343 | ||
| Translation Initiation | 343 | ||
| Polypeptide Elongation | 347 | ||
| Genetic Analysis 9.1 | 349 | ||
| Translation Termination | 350 | ||
| 9.3 Translation Is Fast and Efficient | 351 | ||
| The Translational Complex | 351 | ||
| Translation of Polycistronic mRNA | 352 | ||
| 9.4 The Genetic Code Translates Messenger Rna into Polypeptide | 352 | ||
| The Genetic Code Displays Third-Base Wobble | 353 | ||
| Charging Trna Molecules | 354 | ||
| 9.5 Experiments Deciphered the Genetic Code | 354 | ||
| No Overlap in the Genetic Code | 355 | ||
| A Triplet Genetic Code | 355 | ||
| No Gaps in the Genetic Code | 356 | ||
| Genetic Analysis 9.2 | 357 | ||
| Deciphering the Genetic Code | 358 | ||
| The (Almost) Universal Genetic Code | 359 | ||
| Transfer RNAs and Genetic Code Specificity | 360 | ||
| Genetic Analysis 9.3 | 361 | ||
| 9.6 Translation Is Followed by Polypeptide Folding, Processing, and Protein Sorting | 362 | ||
| Posttranslational Polypeptide Processing | 362 | ||
| The Signal Hypothesis | 363 | ||
| Case Study Antibiotics and Translation Interference | 364 | ||
| Summary | 365 | ||
| Keywords | 366 | ||
| Problems | 366 | ||
| Chapter 10 The Integration of Genetic Approaches: Understanding Sickle Cell Disease | 370 | ||
| 10.1 An Inherited Hemoglobin Variant Causes Sickle Cell Disease | 371 | ||
| The First Patient with Sickle Cell Disease | 371 | ||
| Hemoglobin Structure | 372 | ||
| Globin Gene Mutations | 372 | ||
| 10.2 Genetic Variation Can Be Detected by Examining DNA, RNA, and Proteins | 373 | ||
| Gel Electrophoresis | 374 | ||
| Hemoglobin Peptide Fingerprint Analysis | 376 | ||
| Identification of DNA Sequence Variation | 377 | ||
| Genetic Analysis 10.1 | 379 | ||
| Molecular Probes | 380 | ||
| Electrophoretic Analysis of Sickle Cell Disease | 381 | ||
| Research Technique 10.1 | 382 | ||
| 10.3 Sickle Cell Disease Evolved by Natural Selection in Human Populations | 385 | ||
| Research Technique 10.2 | 386 | ||
| Genetic Analysis 10.2 | 388 | ||
| Malaria Infection | 389 | ||
| Heterozygous Advantage | 389 | ||
| Evolution of BC and BE | 390 | ||
| Case Study Transmission and Molecular Genetic Analysis of Thalassemia | 391 | ||
| Summary | 392 | ||
| Keywords | 392 | ||
| Problems | 393 | ||
| Chapter 11 Chromosome Structure | 397 | ||
| 11.1 Viruses Are Infectious Particles Containing Nucleic Acid Genomes | 398 | ||
| Viral Genomes | 398 | ||
| Viral Protein Packaging | 398 | ||
| 11.2 Bacterial Chromosomes Are Organized by Proteins | 400 | ||
| Bacterial Genome Content | 400 | ||
| Bacterial Chromosome Compaction | 400 | ||
| 11.3 Eukaryotic Chromosomes Are Organized into Chromatin | 402 | ||
| Chromatin Compaction | 402 | ||
| Histone Proteins and Nucleosomes | 403 | ||
| Higher Order Chromatin Organization and Chromosome Structure | 405 | ||
| Nucleosome Distribution and Synthesis During Replication | 406 | ||
| Genetic Analysis 11.1 | 408 | ||
| 11.4 Chromatin Compaction Varies Along the Chromosome | 408 | ||
| Chromosome Shape and Chromosome Karyotypes | 408 | ||
| In Situ Hybridization | 409 | ||
| Imaging Chromosome Territory During Interphase | 411 | ||
| Chromosome Banding | 412 | ||
| Heterochromatin and Euchromatin | 413 | ||
| Centromere Structure | 413 | ||
| Position Effect Variegation: Effect of Chromatin State on Transcription | 414 | ||
| Genetic Analysis 11.2 | 415 | ||
| 11.5 Chromatin Organizes Archaeal Chromosomes | 416 | ||
| Archaeal Chromosome and Genome Characteristics | 416 | ||
| Archaeal Histones | 417 | ||
| Phylogenetic Origins of Histone Proteins | 417 | ||
| Case Study Fishing for Chromosome Abnormalities in Cancer Cells | 418 | ||
| Summary | 419 | ||
| Keywords | 420 | ||
| Problems | 420 | ||
| Chapter 12 Gene Mutation, DNA Repair, and Homologous Recombination | 423 | ||
| 12.1 Mutations Are Rare and Occur at Random | 424 | ||
| Mutation Rates | 424 | ||
| Determination of Mutation Rate from Genome Sequence Analysis | 425 | ||
| 12.2 Gene Mutations Modify DNA Sequence | 425 | ||
| Base-Pair Substitution Mutations | 426 | ||
| Experimental Insight 12.1 | 427 | ||
| Frameshift Mutations | 427 | ||
| Regulatory Mutations | 427 | ||
| Forward Mutation and Reversion | 429 | ||
| 12.3 Gene Mutations May Arise from Spontaneous Events | 429 | ||
| DNA Replication Errors | 429 | ||
| Genetic Analysis 12.1 | 432 | ||
| Spontaneous Nucleotide Base Changes | 432 | ||
| DNA Nucleotide Lesions | 434 | ||
| 12.4 Mutations May Be Induced by Chemicals or Ionizing Radiation | 435 | ||
| Chemical Mutagens | 436 | ||
| Radiation-Induced DNA Damage | 438 | ||
| The Ames Test | 440 | ||
| 12.5 Repair Systems Correct Some DNA Damage | 440 | ||
| Direct Repair of DNA Damage | 441 | ||
| Genetic Analysis 12.2 | 442 | ||
| DNA Damage Signaling Systems | 445 | ||
| DNA Damage Repair Disorders | 446 | ||
| Experimental Insight 12.2 | 447 | ||
| 12.6 Proteins Control Translesion DNA Synthesis and the Repair of Double-Strand Breaks | 447 | ||
| Translesion DNA Synthesis | 447 | ||
| Double-Strand Break Repair | 448 | ||
| 12.7 DNA Double-Strand Breaks Initiate Homologous Recombination | 449 | ||
| The Holliday Model | 450 | ||
| The Bacterial RecBCD Pathway | 450 | ||
| The Double-Stranded Break Model of Meiotic Recombination | 450 | ||
| Holliday Junction Resolution | 451 | ||
| 12.8 Gene Conversion Is Directed Mismatch Repair in Heteroduplex DNA | 451 | ||
| Case Study Li-Fraumeni Syndrome is Caused by Inheritance of Mutations of p53 | 455 | ||
| Summary | 456 | ||
| Keywords | 457 | ||
| Problems | 457 | ||
| Chapter 13 Chromosome Aberrations and Transposition | 462 | ||
| 13.1 Nondisjunction Leads to Changes in Chromosome Number | 463 | ||
| Euploidy and Aneuploidy | 463 | ||
| Chromosome Nondisjunction | 463 | ||
| Gene Dosage Alteration | 464 | ||
| Aneuploidy in Humans | 465 | ||
| Reduced Fertility in Aneuploidy | 467 | ||
| Mosaicism | 467 | ||
| Trisomy Rescue and Uniparental Disomy | 468 | ||
| 13.2 Changes in Euploidy Result in Various Kinds of Polyploidy | 469 | ||
| Autopolyploidy and Allopolyploidy | 469 | ||
| Consequences of Polyploidy | 470 | ||
| Reduced Recessive Homozygosity | 471 | ||
| Polyploidy and Evolution | 471 | ||
| 13.3 Chromosome Breakage Causes Mutation by Loss, Gain, and Rearrangement of Chromosomes | 472 | ||
| Partial Chromosome Deletion | 472 | ||
| Unequal Crossover | 473 | ||
| Detecting Duplication and Deletion | 474 | ||
| Deletion Mapping | 474 | ||
| Genetic Analysis 13.1 | 475 | ||
| Genetic Analysis 13.2 | 477 | ||
| 13.4 Chromosome Breakage Leads to Inversion and Translocation of Chromosomes | 478 | ||
| Chromosome Inversion | 478 | ||
| Chromosome Translocation | 480 | ||
| 13.5 Transposable Genetic Elements Move Throughout the Genome | 482 | ||
| The Discovery of Transposition | 483 | ||
| Experimental Insight 13.1 | 484 | ||
| The Characteristics and Classification of Transposable Elements | 485 | ||
| Experimental Insight 13.2 | 486 | ||
| 13.6 Transposition Modifies Bacterial Genomes | 488 | ||
| Insertion Sequences | 488 | ||
| Composite Transposons | 489 | ||
| 13.7 Transposition Modifies Eukaryotic Genomes | 489 | ||
| Genetic Analysis 13.3 | 490 | ||
| Drosophila P Elements | 490 | ||
| Retrotransposons | 492 | ||
| Case Study Human Chromosome Evolution | 493 | ||
| Summary | 494 | ||
| Keywords | 495 | ||
| Problems | 495 | ||
| Chapter 14 Regulation of Gene Expression in Bacteria and Bacteriophage | 500 | ||
| 14.1 Transcriptional Control of Gene Expression Requires DNA–Protein Interaction | 501 | ||
| Negative and Positive Control of Transcription | 501 | ||
| Regulatory DNA-Binding Proteins | 502 | ||
| 14.2 The lac Operon Is an Inducible Operon System Under Negative and Positive Control | 504 | ||
| Lactose Metabolism | 504 | ||
| lac Operon Function | 505 | ||
| lac Operon Structure | 505 | ||
| 14.3 Mutational Analysis Deciphers Genetic Regulation of the lac Operon | 508 | ||
| Analysis of Structural Gene Mutations | 508 | ||
| lac Operon Regulatory Mutations | 509 | ||
| Molecular Analysis of the lac Operon | 512 | ||
| Genetic Analysis 14.1 | 513 | ||
| Experimental Insight 14.1 | 514 | ||
| 14.4 Transcription from the Tryptophan Operon Is Repressible and Attenuated | 515 | ||
| Feedback Inhibition of Tryptophan Synthesis | 516 | ||
| Attenuation of the trp Operon | 517 | ||
| Attenuation Mutations | 520 | ||
| Attenuation in Other Amino Acid Operon Systems | 520 | ||
| Genetic Analysis 14.2 | 521 | ||
| 14.5 Bacteria Regulate the Transcription of Stress Response Genes and Translation and Archaea Regulate Transcription in a Bacteria-lI | 521 | ||
| Alternative Sigma Factors and Stress Response | 521 | ||
| Translational Regulation in Bacteria | 523 | ||
| Transcriptional Regulation in Archaea | 524 | ||
| 14.6 Antiterminators and Repressors Control Lambda Phage Infection of | 524 | ||
| The Lambda Phage Genome | 525 | ||
| Early Gene Transcription | 525 | ||
| Cro Protein and the Lytic Cycle | 528 | ||
| The Repressor Protein and Lysogeny | 528 | ||
| Resumption of the Lytic Cycle Following Lysogeny Induction | 529 | ||
| Case Study Vibrio Cholerae—Stress Response Leads to Serious Infection | 529 | ||
| Summary | 530 | ||
| Keywords | 531 | ||
| Problems | 531 | ||
| Chapter 15 Regulation of Gene Expression in Eukaryotes | 536 | ||
| 15.1 Cis-Acting Regulatory Sequences Bind Trans-Acting Regulatory Proteins to Control Eukaryotic Transcription | 538 | ||
| Transcriptional Regulatory Interactions | 538 | ||
| Integration and Modularity of Regulatory Sequences | 539 | ||
| Transcription Regulation by Enhancers and Silencers | 540 | ||
| Locus Control Regions | 540 | ||
| Mutations in Regulatory Sequences | 541 | ||
| Enhancer-sequence Conservation | 542 | ||
| Yeast Enhancer and Silencer Sequences | 542 | ||
| Insulator Sequences | 543 | ||
| 15.2 Chromatin Remodeling and Modification Regulates Eukaryotic Transcription | 544 | ||
| PEV Mutations | 544 | ||
| Overview of Chromatin Remodeling and Chromatin Modification | 545 | ||
| Open and Covered Promoters | 546 | ||
| Mechanisms of Chromatin Remodeling | 546 | ||
| Chemical Modifications of Chromatin | 549 | ||
| Genetic Analysis 15.1 | 550 | ||
| An Example of Transcriptional Regulation in S.cerevisiae | 552 | ||
| Epigenetic Heritability | 552 | ||
| A Role for IncRNAs in Gene Regulation | 553 | ||
| Inactivation of Eutherian Mammalian Female X Chromosomes | 553 | ||
| Genomic Imprinting | 554 | ||
| Nucleotide Methylation | 555 | ||
| 15.3 RNA-Mediated Mechanisms Control Gene Expression | 556 | ||
| Gene Silencing by Double-Stranded RNA | 556 | ||
| Chromatin Modification by RNAi | 558 | ||
| The Evolution and Applications of RNAi | 559 | ||
| Case Study Environmental Epigenetics | 560 | ||
| Summary | 561 | ||
| Keywords | 561 | ||
| Problems | 562 | ||
| Chapter 16 Analysis of Gene Function by Forward Genetics and Reverse Genetics | 565 | ||
| 16.1 Forward Genetic Screens Identify Genes by Their Mutant Phenotypes | 567 | ||
| General Design of Forward Genetic Screens | 567 | ||
| Specific Strategies of Forward Genetic Screens | 567 | ||
| Analysis of Mutageneses | 571 | ||
| Genetic Analysis 16.1 | 572 | ||
| Identifying Interacting and Redundant Genes Using Modifier Screens | 572 | ||
| 16.2 Genes Identified by Mutant Phenotype Are Cloned Using Recombinant DNA Technology | 574 | ||
| Cloning Genes by Complementation | 574 | ||
| Using Transposons to Clone Genes | 575 | ||
| Positional Cloning | 576 | ||
| Positional Cloning in Humans: the Huntington Disease Gene | 580 | ||
| Genome Sequencing to Determine Gene Identification | 581 | ||
| 16.3 Reverse Genetics Investigates Gene Action by Progressing from Gene Identification to Phenotype | 583 | ||
| Use of Insertion Mutants in Reverse Genetics | 584 | ||
| RNA Interference in Gene Activity | 584 | ||
| Reverse Genetics by TILLING | 586 | ||
| 16.4 Transgenes Provide a Means of Dissecting Gene Function | 586 | ||
| Genetic Analysis 16.2 | 588 | ||
| Monitoring Gene Expression with Reporter Genes | 588 | ||
| Enhancer Trapping | 591 | ||
| Investigating Gene Function with Chimeric Genes | 592 | ||
| Case Study Reverse Genetics and Genetic Redundancy in Flower Development | 593 | ||
| Summary | 595 | ||
| Keywords | 596 | ||
| Problems | 596 | ||
| Chapter 17 Recombinant DNA Technology and Its Applications | 599 | ||
| 17.1 Specific Dna Sequences Are Identified and Manipulated Using Recombinant Dna Technology | 600 | ||
| Restriction Enzymes | 600 | ||
| Experimental Insight 17.1 | 601 | ||
| Genetic Analysis 17.1 | 603 | ||
| Molecular Cloning | 604 | ||
| DNA Libraries | 609 | ||
| Sequencing Long DNA Molecules | 613 | ||
| 17.2 Introducing Foreign Genes into Genomes Creates Transgenic Organisms | 615 | ||
| Expression of Heterologous Genes in Bacterial and Fungal Hosts | 615 | ||
| Experimental Insight 17.2 | 619 | ||
| Transformation of Plant Genomes by Agrobacterium | 621 | ||
| Transgenic Animals | 626 | ||
| Advances in Altering and Synthesizing DNA Molecules | 630 | ||
| Manipulation of DNA Sequences in Vivo | 630 | ||
| Genetic Analysis 17.2 | 632 | ||
| 17.3 Gene Therapy Uses Recombinant DNA Technology | 632 | ||
| Two Forms of Gene Therapy | 633 | ||
| Gene Therapy in Humans | 633 | ||
| 17.4 Cloning of Plants and Animals Produces Genetically Identical Individuals | 634 | ||
| Case Study Curing Sickle Cell Disease in Mice | 636 | ||
| Summary | 637 | ||
| Keywords | 638 | ||
| Problems | 638 | ||
| Chapter 18 Genomics: Genetics from a Whole-genome Perspective | 643 | ||
| 18.1 Structural Genomics Provides a Catalog of Genes in a Genome | 644 | ||
| Whole-Genome Shotgun Sequencing | 645 | ||
| The Clone-by-Clone Sequencing Approach | 645 | ||
| Metagenomics | 648 | ||
| 18.2 Annotation Ascribes Biological Function to Dna Sequences | 649 | ||
| Experimental Insight 18.1 | 650 | ||
| Variation in Genome Organization Among Species | 652 | ||
| Three Insights from Genome Sequences | 653 | ||
| 18.3 Evolutionary Genomics Traces the History of Genomes | 654 | ||
| Reseach Technique 18.1 | 655 | ||
| The Tree of Life | 656 | ||
| Interspecific Genome Comparisons: Gene Content | 656 | ||
| Research Technique 18.2 | 658 | ||
| Genetic Analysis 18.1 | 662 | ||
| Interspecific Genome Comparisons: Genome Annotation | 663 | ||
| Interspecific Genome Comparisons: Gene Order | 664 | ||
| Intraspecific Genome Comparisons | 666 | ||
| Human Genetic Diversity | 667 | ||
| SNPs and Indels in Humans | 667 | ||
| Prenatal Genome Sequencing | 668 | ||
| 18.4 Functional Genomics Aids in Elucidating Gene Function | 668 | ||
| Transcriptomics | 668 | ||
| Other “-omes” and “-omics” | 670 | ||
| Genomic Approaches to Reverse Genetics | 673 | ||
| Use of Yeast Mutants to Categorize Genes | 673 | ||
| Genetic Networks | 674 | ||
| Case Study Genomic Analysis of insect Guts May Fuel the World | 676 | ||
| Summary | 677 | ||
| Keywords | 677 | ||
| Problems | 678 | ||
| Chapter 19 Organelle Inheritance and The Evolution of Organelle Genomes | 681 | ||
| 19.1 Organelle Inheritance Transmits Genes Carried on Organelle Chromosomes | 682 | ||
| The Discovery of Organelle Inheritance | 682 | ||
| Homoplasmy and Heteroplasmy | 683 | ||
| Genome Replication in Organelles | 684 | ||
| Replicative Segregation of Organelle Genomes | 685 | ||
| 19.2 Modes of Organelle Inheritance Depend on the Organism | 686 | ||
| Mitochondrial Inheritance in Mammals | 686 | ||
| Genetic Analysis 19.1 | 689 | ||
| Mating Type and Chloroplast Segregation in Chlamydomonas | 691 | ||
| Biparental Inheritance in Saccharomyces cerevisiae | 693 | ||
| Summary of Organelle Inheritance | 694 | ||
| 19.3 Mitochondria Are the Energy Factories of Eukaryotic Cells | 694 | ||
| Mitochondrial Genome Structure and Gene Content | 694 | ||
| Mitochondrial Transcription and Translation | 697 | ||
| 19.4 Chloroplasts Are the Sites of Photosynthesis | 698 | ||
| Chloroplast Genome Structure and Gene Content | 699 | ||
| Chloroplast Transcription and Translation | 700 | ||
| Editing of Chloroplast Mrna | 700 | ||
| 19.5 The Endosymbiosis Theory Explains Mitochondrial and Chloroplast Evolution | 700 | ||
| Experimental Insight 19.1 | 701 | ||
| Separate Evolution of Mitochondria and Chloroplasts | 702 | ||
| Continual DNA Transfer from Organelles | 702 | ||
| Encoding of Organellar Proteins | 704 | ||
| The Origin of the Eukaryotic Lineage | 705 | ||
| Secondary and Tertiary Endosymbioses | 706 | ||
| Case Study Ototoxic Deafness: A Mitochondrial Gene–Environment Interaction | 707 | ||
| Summary | 709 | ||
| Keywords | 709 | ||
| Problems | 710 | ||
| Chapter 20 Developmental Genetics | 713 | ||
| 20.1 Development Is the Building of a Multicellular Organism | 714 | ||
| Cell Differentiation | 715 | ||
| Pattern Formation | 715 | ||
| 20.2 Development Is a Paradigm for Animal Development | 716 | ||
| The Developmental Toolkit of Drosophila | 718 | ||
| Maternal Effects on Pattern Formation | 719 | ||
| Coordinate Gene Patterning of the Anterior–Posterior Axis | 719 | ||
| Domains of Gap Gene Expression | 720 | ||
| Regulation of Pair-Rule Genes | 721 | ||
| Specification of Parasegments by Hox Genes | 723 | ||
| Genetic Analysis 20.1 | 726 | ||
| Downstream Targets of Hox Genes | 727 | ||
| Hot Genes in Metazoans | 727 | ||
| Stabilization of Cellular Memory by Chromatin Architecture | 728 | ||
| 20.3 Cellular Interactions Specify Cell Fate | 729 | ||
| Inductive Signaling Between Cells | 729 | ||
| Lateral Inhibition | 732 | ||
| Cell Death During Development | 732 | ||
| 20.4 “Evolution Behaves Like a Tinkerer” | 732 | ||
| Evolution Through Co-Option | 733 | ||
| Constraints on Co-Option | 735 | ||
| 20.5 Plants Represent an Independent Experiment in Multicellular Evolution | 735 | ||
| Development at Meristems | 735 | ||
| Combinatorial Homeotic Activity in Floralorgan Identity | 736 | ||
| Genetic Analysis 20.2 | 739 | ||
| Case Study Cyclopia and Polydactyly—Different Shh Mutations with Distinctive Phenotypes | 739 | ||
| Summary | 741 | ||
| Keywords | 742 | ||
| Problems | 742 | ||
| Chapter 21 Genetic Analysis Of Quantitative Traits | 745 | ||
| 21.1 Quantitative Traits Display Continuous Phenotype Variation | 746 | ||
| Genetic Potential | 746 | ||
| Major Genes and Additive Gene Effects | 747 | ||
| Continuous Phenotypic Variation from Multiple Additive Genes | 748 | ||
| Allele Segregation in Quantitative Trait Production | 748 | ||
| Effects of Environmental Factors on Phenotypic Variation | 751 | ||
| Threshold Traits | 751 | ||
| 21.2 Quantitative Trait Analysis Is Statistical | 753 | ||
| Statistical Description of Phenotypic Variation | 753 | ||
| Genetic Analysis 21.1 | 754 | ||
| Experimental Insight 21.1 | 755 | ||
| Partitioning Phenotypic Variance | 757 | ||
| Genetic Analysis 21.2 | 758 | ||
| Partitioning Genetic Variance | 758 | ||
| 21.3 Heritability Measures the Genetic Component of Phenotypic Variation | 758 | ||
| Broad Sense Heritability | 759 | ||
| Twin Studies | 759 | ||
| Narrow Sense Heritability and Artificial Selection | 761 | ||
| 21.4 Quantitative Trait Loci Are the Genes That Contribute to Quantitative Traits | 762 | ||
| QTL Mapping Strategies | 762 | ||
| Identification of QTL Genes | 764 | ||
| Genome-Wide Association Studies | 766 | ||
| Case Study GWAS and Crohn’s Disease | 768 | ||
| Summary | 769 | ||
| Keywords | 769 | ||
| Problems | 770 | ||
| Chapter 22 Population Genetics and Evolution at the Population, Species, and Molecular Levels | 774 | ||
| 22.1 The Hardy-Weinberg Equilibrium Describes the Relationship of Allele and Genotype Frequencies in Populations | 775 | ||
| Populations and Gene Pools | 775 | ||
| The Hardy-Weinberg Equilibrium | 776 | ||
| Determining Autosomal Allele Frequencies in Populations | 778 | ||
| The Hardy-Weinberg Equilibrium for More Than Two Alleles | 779 | ||
| The Chi-Square Test of Hardy-Weinberg Predictions | 780 | ||
| 22.2 Natural Selection Operates Through Differential Reproductive Fitness Within a Population | 780 | ||
| Differential Reproduction and Relative Fitness | 780 | ||
| Genetic Analysis 22.1 | 781 | ||
| Directional Natural Selection | 782 | ||
| Natural Selection Favoring Heterozygotes | 783 | ||
| Convergent Evolution | 784 | ||
| 22.3 Mutation Diversifies Gene Pools | 785 | ||
| Quantifying the Effects and Reverse Mutation Rates | 785 | ||
| Mutation–Selection Balance | 785 | ||
| Genetic Analysis 22.2 | 786 | ||
| 22.4 Migration Is Movement of Organisms and Genes Between Populations | 787 | ||
| Effects of Gene Flow | 787 | ||
| Allele Frequency Equilibrium and Equalization | 787 | ||
| 22.5 Genetic Drift Causes Allele Frequency Change by Sampling Error | 788 | ||
| The Founder Effect | 788 | ||
| Genetic Bottlenecks | 789 | ||
| 22.6 Inbreeding Alters Genotype Frequencies | 790 | ||
| The Coefficient of Inbreeding | 790 | ||
| Inbreeding Depression | 791 | ||
| Genetic Analysis 22.3 | 792 | ||
| 22.7 Species and Higher Taxonomic Groups Evolve by the Interplay of Four Evolutionary Processes | 792 | ||
| Processes of Speciation | 793 | ||
| Reproductive Isolation and Speciation | 793 | ||
| Contemporary Evolution in Darwin’s Finches | 796 | ||
| 22.8 Molecular Evolution Changes Genes and Genomes Through Time | 796 | ||
| Vertebrate Steroid Receptor Evolution | 796 | ||
| Human Genetic Diversity and Evolution | 798 | ||
| Case Study CODIS—Using Population Genetics to Solve Crime and Identify Paternity | 801 | ||
| Summary | 803 | ||
| Keywords | 804 | ||
| Problems | 804 | ||
| References and Additional Reading | 809 | ||
| Appendix: Answers | 817 | ||
| Glossary | 837 | ||
| Credits | 859 | ||
| Index | 863 |