| About the Authors |
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iii | |
| Preface |
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xi | |
| Acknowledgements |
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xxi | |
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Genetics: The Study of Biological Information |
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1 | (12) |
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The Biological Information Fundamental to Life is Encoded in the DNA Molecule |
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1 | (2) |
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Biological Function Emerges Primarily from Protein Molecules |
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3 | (1) |
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Complex Systems Arise from DNA-Protein and Protein-Protein Interactions |
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4 | (1) |
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All Living Things Are Closely Related at the Molecular Level |
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5 | (2) |
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The Modular Construction of Genomes Has Allowed the Rapid Evolution of Complexity |
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7 | (1) |
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Genetic Techniques Permit the Dissection of Complexity |
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8 | (2) |
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Our Focus Is on Human Genetics |
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10 | (3) |
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PART I Basic Principles: How Traits Are Transmitted |
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13 | (154) |
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Mendel's Breakthrough: Patterns, Particles, and Principles of Heredity |
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13 | (32) |
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Background: The Historical Puzzle of Inheritance |
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15 | (4) |
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Genetic Analysis According to Mendel |
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19 | (11) |
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Mendelian Inheritance in Humans: Two Comprehensive Examples |
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30 | (15) |
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22 | (6) |
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28 | (6) |
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34 | (11) |
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Extensions to Mendel: Complexities in Relating Genotype to Phenotype |
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45 | (36) |
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Extensions to Mendel for Single-Gene Inheritance |
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46 | (10) |
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Extensions to Mendel for Multifactorial Inheritance |
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56 | (25) |
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57 | (11) |
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68 | (13) |
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The Chromosome Theory of Inheritance |
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81 | (42) |
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Chromosomes Contain the Genetic Material |
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82 | (6) |
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Mitosis Ensures That Every Cell in an Organism Carries the Same Chromosomes |
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88 | (5) |
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Meiosis Produces Haploid Germ Cells, the Gametes |
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93 | (10) |
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Gametogenesis Requires Both Mitotic and Meiotic Divisions |
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103 | (2) |
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Validation of the Chromosome Theory |
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105 | (18) |
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87 | (8) |
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95 | (28) |
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Linkage, Recombination, and the Mapping of Genes on Chromosomes |
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123 | (44) |
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Gene Linkage and Recombination |
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124 | (11) |
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Mapping: Locating Genes Along a Chromosome |
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135 | (17) |
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Mitotic Recombination Can Produce Genetic Mosaics |
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152 | (15) |
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128 | (14) |
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142 | (12) |
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154 | (13) |
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PART II What Genes Are and What They Do |
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167 | (134) |
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DNA: How the Molecule of Heredity Carries, Replicates, and Recombines Information |
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167 | (40) |
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Experiments Designate DNA as the Genetic Material |
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168 | (5) |
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The Watson-Crick Model: DNA Is a Double Helix |
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173 | (7) |
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DNA Stores Information in the Sequence of Its Bases |
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180 | (4) |
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DNA Replication: Copying Genetic Information for Transmission to the Next Generation |
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184 | (7) |
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Recombination Reshuffles the Information Content of DNA |
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191 | (16) |
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182 | (25) |
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Anatomy and Function of a Gene: Dissection Through Mutation |
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207 | (48) |
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Mutations: Primary Tools of Genetic Analysis |
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208 | (16) |
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What Mutations Tell Us About Gene Structure |
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224 | (8) |
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What Mutations Tell Us About Gene Function |
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232 | (7) |
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How Gene Mutations Affect Light-Receiving Proteins and Vision: A Comprehensive Example |
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239 | (16) |
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216 | (24) |
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240 | (15) |
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Gene Expression: The Flow of Genetic Information from DNA to RNA to Protein |
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255 | (46) |
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The Genetic Code: How Precise Groupings of the Four Nucleotides Specify 20 Amino Acids |
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257 | (8) |
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Transcription: RNA Polymerase Synthesizes a Single-Stranded RNA Copy of a Gene |
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265 | (10) |
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Translation: Base Pairing Between mRNA and tRNAs Directs Assembly of a Polypeptide on the Ribosome |
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275 | (7) |
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There Are Significant Differences in Gene Expression Between Prokaryotes and Eukaryotes |
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282 | (2) |
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Comprehensive Example: A Computerized Analysis of Gene Expression in C. elegans |
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284 | (1) |
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How Mutations Affect Gene Expression and Gene Function |
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285 | (16) |
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270 | (31) |
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301 | (164) |
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Deconstructing the Genome: DNA at High Resolution |
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301 | (50) |
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Fragmenting Complex Genomes into Bite-Size Pieces for Analysis |
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303 | (7) |
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310 | (9) |
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Hybridization Is Used to Identify Similar DNA Sequences |
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319 | (8) |
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The Polymerase Chain Reaction Provides a Rapid Method for Isolating DNA Fragments |
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327 | (3) |
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330 | (5) |
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Understanding the Genes for Hemoglobin: A Comprehensive Example |
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335 | (16) |
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306 | (14) |
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320 | (31) |
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Reconstructing the Genome Through Genetic and Molecular Analysis |
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351 | (40) |
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354 | (12) |
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Major Insights from the Human and Model Organism Genome Sequences |
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366 | (9) |
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High-Throughput Genomic Platforms Permit the Global Analysis of Genes and Their mRNAs |
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375 | (16) |
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381 | (10) |
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The Direct Detection of Genotype Distinguishes Individual Genomes |
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391 | (46) |
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DNA Variation Is Multifaceted and Widespread |
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394 | (5) |
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Detecting DNA Genotypes of Different Types of Polymorphisms |
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399 | (9) |
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Positional Cloning: From DNA Markers to Gene Clones |
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408 | (11) |
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Genetic Dissection of Complex Traits |
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419 | (4) |
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Haplotype Association Studies for High-Resolution Mapping in Humans |
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423 | (14) |
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394 | (22) |
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416 | (21) |
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Systems Biology and Proteomics |
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437 | (28) |
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439 | (1) |
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Looking at Biology as an Informational Science Is Central to the Practice of Systems Biology |
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440 | (4) |
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Global Proteomics Strategies and High-Throughput Platforms Make It Possible to Gather and Analyze Systemwide Protein Data |
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444 | (7) |
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Putting It All Together: The Practice of Systems Biology |
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451 | (4) |
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A Systems Approach to Disease Leads to Predictive, Preventive, and Personalized Medicine |
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455 | (10) |
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457 | (8) |
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PART IV How Genes Travel on Chromosomes |
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465 | (144) |
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The Eukaryotic Chromosome: An Organelle for Packaging and Managing DNA |
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465 | (24) |
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The Components of Eukaryotic Chromosomes: DNA, Histones, and Nonhistone Proteins |
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466 | (3) |
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Chromosome Structure: Variable DNA-Protein Interactions Create Reversible Levels of Compaction |
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469 | (5) |
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Specialized Chromosomal Elements Ensure Accurate Replication and Segregation of Chromosomes |
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474 | (5) |
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How Chromosomal Packaging Influences Gene Activity |
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479 | (10) |
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Chromosomal Rearrangements and Changes in Chromosome Number Reshape Eukaryotic Genomes |
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489 | (50) |
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Rearrangements of DNA Sequences Within Chromosomes |
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491 | (25) |
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Changes in Chromosome Number |
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516 | (8) |
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A Glimpse of the Future: Emergent Technologies in the Analysis of Chromosomal Rearrangements and Changes in Chromosome Number |
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524 | (15) |
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492 | (47) |
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The Prokaryotic Chromosome: Genetic Analysis in Bacteria |
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539 | (42) |
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A General Overview of Prokaryotes |
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540 | (3) |
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543 | (7) |
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Gene Transfer in Bacteria |
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550 | (16) |
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Comprehensive Example: Genetic Dissection Helps Explain How Bacteria Move |
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566 | (4) |
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Genome Analysis Provides Powerful New Tools for Understanding Bacteria |
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570 | (11) |
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544 | (37) |
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The Chromosomes of Organelles Outside the Nucleus Exhibit Non-Mendelian Patterns of Inheritance |
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581 | (28) |
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The Structure and Function of Mitochondrial and Chloroplast Genomes |
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583 | (9) |
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Genetic Studies of Organelle Genomes Clarify Key Elements of Non-Mendelian Inheritance |
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592 | (7) |
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Comprehensive Example: How Mutations in mtDNA Affect Human Health |
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599 | (10) |
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594 | (6) |
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600 | (9) |
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PART V How Genes Are Regulated |
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609 | (148) |
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Gene Regulation in Prokaryotes |
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609 | (34) |
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An Overview of Prokaryotic Gene Regulation |
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611 | (1) |
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The Regulation of Gene Transcription |
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612 | (14) |
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The Attenuation of Gene Expression: Fine-Tuning the trp Operon Through the Termination of Transcription |
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626 | (2) |
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Global Regulatory Mechanisms Coordinate the Expression of Many Sets of Genes |
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628 | (4) |
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A Comprehensive Example: The Regulation of Virulence Genes in V. cholerae |
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632 | (11) |
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630 | (13) |
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Gene Regulation in Eukaryotes |
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643 | (42) |
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The Use of Genetics to Study Gene Regulation |
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645 | (1) |
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Gene Regulation Begins with Control Over the Initiation of Transcription |
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646 | (18) |
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Regulation After Transcription Influences RNA Production, Protein Synthesis, and Protein Stability |
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664 | (5) |
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Sex Determination in Drosophila: A Comprehensive Example of Gene Regulation |
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669 | (16) |
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670 | (15) |
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Cell-Cycle Regulation and the Genetics of Cancer |
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685 | (32) |
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The Normal Control of Cell Division |
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686 | (10) |
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Cancer Arises When Controls Over Cell Division No Longer Function Properly |
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696 | (21) |
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Using Genetics to Study Development |
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717 | (40) |
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Model Organisms: Prototypes for Developmental Genetics |
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719 | (2) |
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Genetics Simplifies the Study of Development |
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721 | (11) |
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The Genetic Analysis of Body-Plan Development in Drosophila: A Comprehensive Example |
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732 | (13) |
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How Genes Help Control Development: A Mechanistic Framework |
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745 | (12) |
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724 | (33) |
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757 | |
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The Genetic Analysis of Populations and How They Evolve |
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757 | (34) |
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The Hardy-Weinberg Law: A Model for Understanding Allele, Genotype, and Phenotype Frequencies for a Single-Gene Trait in a Genetically Stable Population |
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759 | (3) |
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Beyond Hardy-Weinberg: Measuring How Mutation and Selection Cause Changes in Allele Frequencies |
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762 | (11) |
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Analyzing the Quantitative Variation of Multifactorial Traits |
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773 | (18) |
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780 | (11) |
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Evolution at the Molecular Level |
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791 | |
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The Origin of Life on Earth |
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794 | (5) |
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799 | (6) |
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The Organization of Genomes |
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805 | (8) |
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The Immunoglobulin Gene Superfamily: A Comprehensive Example of Molecular Evolution |
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813 | |
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802 | |
| Guidelines for Gene Nomenclature |
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1 | (1) |
| Brief Answer Section |
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1 | (1) |
| Glossary |
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1 | (1) |
| Credits |
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1 | (1) |
| Index |
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1 | |
Other versions by this Author