| |
| |
| Preface | |
| |
| |
| |
| Genetics: An Introduction | |
| |
| |
| Classic and Modern Genetics | |
| |
| |
| Basic Concepts of Genetics | |
| |
| |
| DNA, Genes, and Chromosomes | |
| |
| |
| Transmission of Genetic Information | |
| |
| |
| Expression of Genetic Information | |
| |
| |
| Sources of Genetic Variation | |
| |
| |
| Geneticists and Genetic Research | |
| |
| |
| The Subdisciplines of Genetics | |
| |
| |
| Basic and Applied Research | |
| |
| |
| Genetic Databases and Maps | |
| |
| |
| Model Organisms | |
| |
| |
| Cellular Reproduction | |
| |
| |
| Eukaryotic Cells | |
| |
| |
| Eukaryotic Chromosomes | |
| |
| |
| Mitosis | |
| |
| |
| Meiosis | |
| |
| |
| Summary | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Mendelian Genetics | |
| |
| |
| Genotype and Phenotype | |
| |
| |
| Mendel's Experimental Design | |
| |
| |
| Monohybrid Crosses and Mendel's Principle of Segregation | |
| |
| |
| The Principle of Segregation | |
| |
| |
| Representing Crosses with a Branch Diagram | |
| |
| |
| Confirming the Principle of Segregation: The Use of Testcrosses | |
| |
| |
| Dihybrid Crosses and Mendel's Principle of Independent Assortment | |
| |
| |
| The Principle of Independent Assortment | |
| |
| |
| Branch Diagram of Dihybrid Crosses | |
| |
| |
| Trihybrid Crosses | |
| |
| |
| The "Rediscovery" of Mendel's Principles | |
| |
| |
| Statistical Analysis of Genetic Data: The Chi-Square Test | |
| |
| |
| Mendelian Genetics in Humans | |
| |
| |
| Pedigree Analysis | |
| |
| |
| Examples of Human Genetic Traits | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Chromosomal Basis of Inheritance, Sex Linkage, and Sex Determination | |
| |
| |
| Chromosome Theory of Inheritance | |
| |
| |
| Sex Chromosomes | |
| |
| |
| Sex Linkage | |
| |
| |
| Nondisjunction of X Chromosomes | |
| |
| |
| Sex Determination | |
| |
| |
| Genotypic Sex Determination Systems | |
| |
| |
| Environmental Sex Determination Systems | |
| |
| |
| Analysis of Sex-Linked Traits in Humans | |
| |
| |
| X-Linked Recessive Inheritance | |
| |
| |
| X-Linked Dominant Inheritance | |
| |
| |
| Y-Linked Inheritance | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Extensions of Mendelian Genetic Analysis | |
| |
| |
| Multiple Alleles | |
| |
| |
| ABO Blood Groups | |
| |
| |
| Drosophila Eye Color | |
| |
| |
| Modifications of Dominant Relationships | |
| |
| |
| Incomplete Dominance | |
| |
| |
| Codominance | |
| |
| |
| Molecular Explanations of Incomplete Dominance and Codominance | |
| |
| |
| Gene Interactions and Modified Mendelian Ratios | |
| |
| |
| Gene Interactions That Produce New Phenotypes | |
| |
| |
| Epistasis | |
| |
| |
| Essential Genes and Lethal Alleles | |
| |
| |
| Gene Expression and the Environment | |
| |
| |
| Penetrance and Expressivity | |
| |
| |
| Effects of the Environment | |
| |
| |
| Nature Versus Nurture | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Gene Mapping in Eukaryotes | |
| |
| |
| Discovery of Genetic Linkage | |
| |
| |
| Morgan's Linkage Experiments with Drosophila | |
| |
| |
| Constructing Genetic Maps | |
| |
| |
| Detecting Linkage Through Testcrosses | |
| |
| |
| Gene Mapping Using Two-Point Testcrosses | |
| |
| |
| Generating a Genetic Map | |
| |
| |
| Gene Mapping Using Three-Point Testcrosses | |
| |
| |
| Calculating Accurate Map Distances | |
| |
| |
| Tetrad Analysis in Certain Haploid Eukaryotes | |
| |
| |
| Using Tetrad Analysis to Map Two Linked Genes | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Gene Mapping in Bacteria and Bacteriophages | |
| |
| |
| Genetic Analysis of Bacteria | |
| |
| |
| Genetic Mapping in Bacteria by Conjugation | |
| |
| |
| Discovery of Conjugation in E. coli | |
| |
| |
| The Sex Factor F | |
| |
| |
| High-Frequency Recombination Strains of E. coli | |
| |
| |
| F' Factors | |
| |
| |
| Using Conjugation to Map Bacterial Genes | |
| |
| |
| Circularity of the E. coli Map | |
| |
| |
| Genetic Mapping in Bacteria by Transformation | |
| |
| |
| Genetic Mapping in Bacteria by Transduction | |
| |
| |
| Bacteriophages | |
| |
| |
| Transduction Mapping of Bacterial Chromosomes | |
| |
| |
| Mapping Genes of Bacteriophages | |
| |
| |
| Fine-Structure Analysis of a Bacteriophage Gene | |
| |
| |
| Recombination Analysis of rII Mutants | |
| |
| |
| Defining Genes by Complementation (Cis-Trans) Tests | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Non-Mendelian Genetics | |
| |
| |
| Origin of Mitochondria and Chloroplasts | |
| |
| |
| Rules of Non-Mendelian Inheritance | |
| |
| |
| Examples of Extranuclear Inheritance | |
| |
| |
| Shoot Variegation in the Four O'Clock | |
| |
| |
| The [poky] Mutant of Neurospora | |
| |
| |
| Yeast petite Mutants | |
| |
| |
| Non-Mendelian Genetics of Chlamydomonas | |
| |
| |
| Human Genetic Diseases and Mitochondrial DNA Defects | |
| |
| |
| Infectious Heredity: Killer Yeast | |
| |
| |
| Contrasts to Non-Mendelian Inheritance | |
| |
| |
| Maternal Effect | |
| |
| |
| Genomic Imprinting | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| DNA: The Genetic Material | |
| |
| |
| The Search for Genetic Material | |
| |
| |
| Griffith's Transformation Experiment | |
| |
| |
| Avery's Transformation Experiment | |
| |
| |
| The Hershey-Chase Bacteriophage Experiment | |
| |
| |
| The Composition and Structure of DNA and RNA | |
| |
| |
| The Discovery of the DNA Double Helix | |
| |
| |
| Different DNA Structures | |
| |
| |
| DNA in the Cell | |
| |
| |
| The Organization of DNA in Chromosomes | |
| |
| |
| Viral Chromosomes | |
| |
| |
| Prokaryotic Chromosomes | |
| |
| |
| Eukaryotic Chromosomes | |
| |
| |
| Chromosomes of Mitochondria and Chloroplasts | |
| |
| |
| Unique-Sequence and Repetitive-Sequence DNA | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| DNA Replication | |
| |
| |
| Semiconservative DNA Replication | |
| |
| |
| The Meselson-Stahl Experiment | |
| |
| |
| Semiconservative DNA Replication in Eukaryotes | |
| |
| |
| Enzymes Involved in DNA Synthesis | |
| |
| |
| DNA Polymerase I | |
| |
| |
| Role of DNA Polymerases | |
| |
| |
| Molecular Model of DNA Replication | |
| |
| |
| Initiation of Replication | |
| |
| |
| Semidiscontinuous DNA Replication | |
| |
| |
| DNA Replication in Eukaryotes | |
| |
| |
| DNA Replication and the Cell Cycle | |
| |
| |
| Eukaryotic Replication Enzymes | |
| |
| |
| Replicons | |
| |
| |
| Origins of Replication | |
| |
| |
| Replicating the Ends of Chromosomes | |
| |
| |
| Assembling New DNA into Nucleosomes | |
| |
| |
| DNA Recombination | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Gene Control of Proteins | |
| |
| |
| Gene Control of Enzyme Structure | |
| |
| |
| Garrod's Hypothesis on Inborn Errors of Metabolism | |
| |
| |
| The One Gene-One Enzyme Hypothesis | |
| |
| |
| Genetically Based Enzyme Deficiencies in Humans | |
| |
| |
| Phenylketonuria | |
| |
| |
| Albinism | |
| |
| |
| Lesch-Nyhan Syndrome | |
| |
| |
| Tay-Sachs Disease | |
| |
| |
| Gene Control of Protein Structure | |
| |
| |
| Sickle-Cell Anemia | |
| |
| |
| Other Hemoglobin Mutants | |
| |
| |
| Biochemical Genetics of the Human ABO Blood Groups | |
| |
| |
| Cystic Fibrosis | |
| |
| |
| Genetic Counseling | |
| |
| |
| Carrier Detection | |
| |
| |
| Fetal Analysis | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Gene Expression: Transcription | |
| |
| |
| Gene Expression: An Overview | |
| |
| |
| The Transcription Process | |
| |
| |
| RNA Synthesis | |
| |
| |
| Initiation of Transcription at Promoters | |
| |
| |
| Elongation and Termination of an RNA Chain | |
| |
| |
| Transcription in Eukaryotes | |
| |
| |
| Eukaryotic RNA Polymerases | |
| |
| |
| Transcription of Protein-Coding Genes by RNA Polymerase II | |
| |
| |
| Eukaryotic mRNAs | |
| |
| |
| Transcription of Other Genes | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Gene Expression: Translation | |
| |
| |
| Proteins | |
| |
| |
| Chemical Structure of Proteins | |
| |
| |
| Molecular Structure of Proteins | |
| |
| |
| The Nature of the Genetic Code | |
| |
| |
| The Genetic Code Is a Triplet Code | |
| |
| |
| Deciphering the Genetic Code | |
| |
| |
| Characteristics of the Genetic Code | |
| |
| |
| Translation: The Process of Protein Synthesis | |
| |
| |
| Charging tRNA | |
| |
| |
| Initiation of Translation | |
| |
| |
| Elongation of the Polypeptide Chain | |
| |
| |
| Termination of Translation | |
| |
| |
| Protein Sorting in the Cell | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Recombinant DNA Cloning Technology | |
| |
| |
| DNA Cloning | |
| |
| |
| Restriction Enzymes | |
| |
| |
| Cloning Vectors and DNA Cloning | |
| |
| |
| Recombinant DNA Libraries | |
| |
| |
| Genomic Libraries | |
| |
| |
| cDNA Libraries | |
| |
| |
| Finding a Specific Clone in a Library | |
| |
| |
| Analysis of Genes and Gene Transcripts | |
| |
| |
| Restriction Enzyme Analysis of Cloned DNA Sequences | |
| |
| |
| Restriction Enzyme Analysis of Genes in the Genome | |
| |
| |
| Analysis of Gene Transcripts | |
| |
| |
| DNA Sequencing | |
| |
| |
| Polymerase Chain Reaction (PCR) | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Applications of Recombinant DNA Technology | |
| |
| |
| Analysis of Biological Processes | |
| |
| |
| Glucose Repression of Transcription of the Yeast GAL1 Gene | |
| |
| |
| DNA Molecular Testing for Human Disease Mutations | |
| |
| |
| Concept of DNA Molecular Testing | |
| |
| |
| Purposes of Human Genetic Testing | |
| |
| |
| Examples of DNA Molecular Testing | |
| |
| |
| Isolation of Human Genes | |
| |
| |
| Cloning the Cystic Fibrosis Gene | |
| |
| |
| DNA Typing | |
| |
| |
| DNA Typing in a Paternity Case | |
| |
| |
| Other Applications of DNA Typing | |
| |
| |
| Gene Therapy | |
| |
| |
| Commercial Products | |
| |
| |
| Genetic Engineering of Plants | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Genome Analysis | |
| |
| |
| Structural Genomics | |
| |
| |
| Sequencing Genomes | |
| |
| |
| Overview of Genomes Sequenced | |
| |
| |
| Bacterial Genomes | |
| |
| |
| Eukaryotic Genomes | |
| |
| |
| Functional Genomics | |
| |
| |
| Identifying Genes in DNA Sequences | |
| |
| |
| Homology Searches to Assign Gene Function | |
| |
| |
| Assigning Gene Function Experimentally | |
| |
| |
| Describing Patterns of Gene Expression | |
| |
| |
| Comparative Genomics | |
| |
| |
| Ethics and the Human Genome Project | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Regulation of Gene Expression in Bacteria and Bacteriophages | |
| |
| |
| The lac Operon of E. coli | |
| |
| |
| Lactose as a Carbon Source for E. coli | |
| |
| |
| Experimental Evidence for the Regulation of lac Genes | |
| |
| |
| Jacob and Monod's Operon Model for the Regulation of lac Genes | |
| |
| |
| Positive Control of the lac Operon | |
| |
| |
| The trp Operon of E. coli | |
| |
| |
| Gene Organization of the Tryptophan Biosynthesis Genes | |
| |
| |
| Regulation of the trp Operon | |
| |
| |
| Regulation of Gene Expression in Phage Lambda | |
| |
| |
| Early Transcription Events | |
| |
| |
| The Lysogenic Pathway | |
| |
| |
| The Lytic Pathway | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Regulation of Gene Expression in Eukaryotes | |
| |
| |
| Levels of Control of Gene Expression in Eukaryotes | |
| |
| |
| Transcriptional Control | |
| |
| |
| RNA Processing Control | |
| |
| |
| mRNA Translation Control | |
| |
| |
| mRNA Degradation Control | |
| |
| |
| Protein Degradation Control | |
| |
| |
| Gene Regulation in Development and Differentiation | |
| |
| |
| Constancy of DNA in the Genome During Development | |
| |
| |
| Differential Gene Activity Among Tissues and During Development | |
| |
| |
| Immunogenetics and Chromosome Rearrangements During Development | |
| |
| |
| Genetic Regulation of Development in Drosophila | |
| |
| |
| Drosophila Developmental Stages | |
| |
| |
| Embryonic Development | |
| |
| |
| Microarray Analysis of Drosophila Development | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Genetics of Cancer | |
| |
| |
| Relationship of the Cell Cycle to Cancer | |
| |
| |
| The Two-Hit Mutation Model for Cancer | |
| |
| |
| Genes and Cancer | |
| |
| |
| Oncogenes | |
| |
| |
| Tumor Suppressor Genes | |
| |
| |
| Mutator Genes | |
| |
| |
| The Multistep Nature of Cancer | |
| |
| |
| Chemicals and Radiation as Carcinogens | |
| |
| |
| Chemical Carcinogens | |
| |
| |
| Radiation | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| DNA Mutation and Repair | |
| |
| |
| Adaptation Versus Mutation | |
| |
| |
| Mutations Defined | |
| |
| |
| Types of Point Mutations | |
| |
| |
| Reverse Mutations and Suppressor Mutations | |
| |
| |
| Spontaneous and Induced Mutations | |
| |
| |
| Spontaneous Mutations | |
| |
| |
| Induced Mutations | |
| |
| |
| Chemical Mutagens in the Environment | |
| |
| |
| DNA Repair Mechanisms | |
| |
| |
| Direct Correction of Mutational Lesions | |
| |
| |
| Repair Involving Excision of Base Pairs | |
| |
| |
| Human Genetic Diseases Resulting from DNA Replication and Repair Mutations | |
| |
| |
| Detecting Mutations | |
| |
| |
| Visible Mutations | |
| |
| |
| Auxotrophic Mutations | |
| |
| |
| Conditional Mutations | |
| |
| |
| Resistance Mutations | |
| |
| |
| Molecular Screens | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Transposable Elements | |
| |
| |
| General Features of Transposable Elements | |
| |
| |
| Transposable Elements in Prokaryotes | |
| |
| |
| Insertion Sequences | |
| |
| |
| Transposons | |
| |
| |
| Transposable Elements in Eukaryotes | |
| |
| |
| Transposons in Plants | |
| |
| |
| Ty Elements in Yeast | |
| |
| |
| P Elements in Drosophila | |
| |
| |
| Human Retrotransposons | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Chromosomal Mutations | |
| |
| |
| Types of Chromosomal Mutations | |
| |
| |
| Variations in Chromosome Structure | |
| |
| |
| Deletion | |
| |
| |
| Duplication | |
| |
| |
| Inversion | |
| |
| |
| Translocation | |
| |
| |
| Fragile Sites and Fragile X Syndrome | |
| |
| |
| Variations in Chromosome Number | |
| |
| |
| Changes in One or a Few Chromosomes | |
| |
| |
| Changes in Complete Sets of Chromosomes | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Population Genetics | |
| |
| |
| Genetic Structure of Populations | |
| |
| |
| Genotypic Frequencies | |
| |
| |
| Allelic Frequencies | |
| |
| |
| The Hardy-Weinberg Law | |
| |
| |
| Assumptions of the Hardy-Weinberg Law | |
| |
| |
| Predictions of the Hardy-Weinberg Law | |
| |
| |
| Derivation of the Hardy-Weinberg Law | |
| |
| |
| Extensions of the Hardy-Weinberg Law to Loci with More than Two Alleles | |
| |
| |
| Extensions of the Hardy-Weinberg Law to Sex-Linked Alleles | |
| |
| |
| Testing for Hardy-Weinberg Proportions | |
| |
| |
| Using the Hardy-Weinberg Law to Estimate Allelic Frequencies | |
| |
| |
| Genetic Variation in Space and Time | |
| |
| |
| Genetic Variation in Natural Populations | |
| |
| |
| Measuring Genetic Variation at the Protein Level | |
| |
| |
| Measuring Genetic Variation at the DNA Level | |
| |
| |
| Forces That Change Gene Frequencies in Populations | |
| |
| |
| Mutation | |
| |
| |
| Random Genetic Drift | |
| |
| |
| Migration | |
| |
| |
| Natural Selection | |
| |
| |
| Balance Between Mutation and Selection | |
| |
| |
| Assortative Mating | |
| |
| |
| Inbreeding | |
| |
| |
| Summary of the Effects of Evolutionary Forces on the Genetic Structure of a Population | |
| |
| |
| Changes in Allelic Frequency Within a Population | |
| |
| |
| Genetic Divergence Between Populations | |
| |
| |
| Increases and Decreases in Genetic Variation Within Populations | |
| |
| |
| The Role of Genetics in Conservation Biology | |
| |
| |
| Speciation | |
| |
| |
| Barriers to Gene Flow | |
| |
| |
| Genetic Basis for Speciation | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Quantitative Genetics | |
| |
| |
| The Nature of Continuous Traits | |
| |
| |
| Why Some Traits Have Continuous Phenotypes | |
| |
| |
| Questions Studied in Quantitative Genetics | |
| |
| |
| Statistical Tools | |
| |
| |
| Samples and Populations | |
| |
| |
| Distributions | |
| |
| |
| The Mean | |
| |
| |
| The Variance and the Standard Deviation | |
| |
| |
| Correlation | |
| |
| |
| Polygenic Inheritance | |
| |
| |
| Inheritance of Ear Length in Corn | |
| |
| |
| Polygene Hypothesis for Quantitative Inheritance | |
| |
| |
| Quantitative Trait Loci | |
| |
| |
| Heritability | |
| |
| |
| Components of the Phenotypic Variance | |
| |
| |
| Broad-Sense and Narrow-Sense Heritability | |
| |
| |
| Understanding Heritability | |
| |
| |
| Response to Selection | |
| |
| |
| Estimating the Response to Selection | |
| |
| |
| Genetic Correlations | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| |
| Molecular Evolution | |
| |
| |
| Patterns and Modes of Substitutions | |
| |
| |
| Nucleotide Substitutions in DNA Sequences | |
| |
| |
| Rates of Nucleotide Substitutions | |
| |
| |
| Variations in Evolutionary Rates Between Genes | |
| |
| |
| Rates of Evolution in Mitochondrial DNA | |
| |
| |
| Molecular Clocks | |
| |
| |
| Molecular Phylogeny | |
| |
| |
| Phylogenetic Trees | |
| |
| |
| Reconstruction Methods | |
| |
| |
| Phylogenetic Trees on a Grand Scale | |
| |
| |
| Acquisition and Origins of New Functions | |
| |
| |
| Multigene Families | |
| |
| |
| Gene Duplication and Gene Conversion | |
| |
| |
| Arabidopsis Genome Results | |
| |
| |
| Summary | |
| |
| |
| Analytical Approaches for Solving Genetics Problems | |
| |
| |
| Questions and Problems | |
| |
| |
| Glossary | |
| |
| |
| Suggested Readings | |
| |
| |
| Solutions to Selected Questions and Problems | |
| |
| |
| Credits | |
| |
| |
| Index | |