Genetic Analysis: An Integrated Approach with MasteringGenetics, Global Edition

BRIEF CONTENTS

1 The Molecular Basis of Heredity, Variation, and Evolution  

1. 1 Modern Genetics Is in Its Second Century  

1. 2 The Structure of DNA Suggests a Mechanism for Replication  

1. 3 DNA Transcription and Messenger RNA Translation Express Genes  

1. 4 Evolution Has a Molecular Basis  

Case Study The Modern Human Family Mystery  

Summary • Keywords  • Problems  

2 Transmission Genetics  

2. 1 Gregor Mendel Discovered the Basic Principles of Genetic Transmission

2. 2 Monohybrid Crosses Reveal the Segregation of Alleles  

2. 3 Dihybrid and Trihybrid Crosses Reveal the Independent Assortment of
Alleles  

2. 4 Probability Theory Predicts Mendelian Ratios  

2. 5 Chi-Square Analysis Tests the Fit between Observed Values and
Expected Outcomes  

2. 6 Autosomal Inheritance and Molecular Genetics Parallel the Predictions
of Mendel’s Hereditary Principles  

Case Study Inheritance of Sickle Cell Disease in Humans  

Summary  • Keywords   • Problems  

3 Cell Division and Chromosome Heredity  

3. 1 Mitosis Divides Somatic Cells  

3. 2 Meiosis Produces Gametes for Sexual Reproduction  

3. 3 The Chromosome Theory of Heredity Proposes That Genes Are
Carried on Chromosomes  

3. 4 Sex Determination Is Chromosomal and Genetic  

3. 5 Human Sex-Linked Transmission Follows Distinct Patterns  

3. 6 Dosage Compensation Equalizes the Expression of Sex-Linked

Genes  

Case Study The (Degenerative) Evolution of the Mammalian Y Chromosome  

Summary  • Keywords  • Problems  

4 Inheritance Patterns of Single Genes and Gene Interaction  

4. 1 Interactions between Alleles Produce Dominance Relationships  

4. 2 Some Genes Produce Variable Phenotypes  

4. 3 Gene Interaction Modifies Mendelian Ratios  

4. 4 Complementation Analysis Distinguishes Mutations in the Same Gene
from Mutations in Different Genes  

Case Study  Complementation Groups in a Human Cancer-Prone Disorder  

Summary  • Keywords • Problems  

5 Genetic Linkage and Mapping in Eukaryotes  

5. 1 Linked Genes Do Not Assort Independently  

5. 2 Genetic Linkage Mapping Is Based on Recombination Frequency
between Genes  

5. 3 Three-Point Test-Cross Analysis Maps Genes  

5. 4 Recombination Results from Crossing Over  

5. 5 Linked Human Genes Are Mapped Using Lod Score Analysis  

5. 6 Recombination Affects Evolution and Genetic Diversity  

5. 7 Genetic Linkage in Haploid Eukaryotes Is Identified by Tetrad Analysis  

5. 8 Mitotic Crossover Produces Distinctive Phenotypes

Case Study Mapping the Gene for Cystic Fibrosis  

Summary  • Keywords  • Problems  

6 Genetic Analysis and Mapping in Bacteria and Bacteriophages  

6. 1 Bacteria Transfer Genes by Conjugation  

6. 2 Interrupted Mating Analysis Produces Time-of-Entry Maps  

6. 3 Conjugation with F¢ Strains Produces Partial Diploids  

6. 4 Bacterial Transformation Produces Genetic Recombination  

6. 5 Bacterial Transduction Is Mediated by Bacteriophages  

6. 6 Bacteriophage Chromosomes Are Mapped by Fine-Structure Analysis  

6. 7 Lateral Gene Transfer Alters Genomes

Case Study The Evolution of Antibiotic Resistance and Change in Medical Practice  

Summary   • Keywords   • Problems 

7 DNA Structure and Replication  

7. 1 DNA Is the Hereditary Molecule of Life  

7. 2 The DNA Double Helix Consists of Two Complementary and
Antiparallel Strands  

7. 3 DNA Replication Is Semiconservative and Bidirectional  

7. 4 DNA Replication Precisely Duplicates the Genetic Material  

7. 5 Molecular Genetic Analytical Methods Make Use of DNA Replication
Processes  

Case Study Use of PCR and DNA Sequencing to Analyze Huntington Disease Mutations  

Summary  • Keywords  • Problems  

8 Molecular Biology of Transcription and RNA Processing 

8. 1 RNA Transcripts Carry the Messages of Genes  

8. 2 Bacterial Transcription Is a Four-Stage Process 

8. 3 Archaeal and Eukaryotic Transcription Displays Structural Homology and Common Ancestry  

8. 4 Post-Transcriptional Processing Modifies RNA Molecules  

Case Study Sexy Splicing: Alternative mRNA Splicing and Sex Determination in Drosophila  

Summary  • Keywords   • Problems  

9 The Molecular Biology of Translation  

9. 1 Polypeptides Are Composed of Amino Acid Chains That Are Assembled at Ribosomes  

9. 2 Translation Occurs in Three Phases  

9. 3 Translation Is Fast and Efficient  

9. 4 The Genetic Code Translates Messenger RNA into Polypeptide 

9. 5 Experiments Deciphered the Genetic Code  

9. 6 Translation Is Followed by Polypeptide Folding, Processing, and Protein Sorting  

Case Study Antibiotics and Translation Interference  

Summary  • Keywords  • Problems  

10 The Integration of Genetic Approaches: Understanding Sickle Cell
Disease 

10. 1 An Inherited Hemoglobin Variant Causes Sickle Cell Disease  

10. 2 Genetic Variation Can Be Detected by Examining DNA, RNA, and
Proteins  

10. 3 Sickle Cell Disease Evolved by Natural Selection in Human Populations  

Case Study Transmission and Molecular Genetic Analysis of Thalassemia  

Summary   • Keywords • Problems  

11 Chromosome Structure  

11. 1 Viruses Are Infectious Particles Containing Nucleic Acid Genomes

11. 2 Bacterial Chromosomes Are Organized by Proteins  

11. 3 Eukaryotic Chromosomes Are Organized into Chromatin  

11. 4 Chromatin Compaction Varies along the Chromosome 

11. 5 Chromatin Organizes Archaeal Chromosomes

Case Study Fishing for Chromosome Abnormalities in Cancer Cells  

Summary  • Keywords • Problems  

12 Gene Mutation, DNA Repair, and Homologous Recombination  

12. 1 Mutations Are Rare and Occur at Random  

12. 2 Gene Mutations Modify DNA Sequence  

12. 3 Gene Mutations May Arise from Spontaneous Events  

12. 4 Mutations May Be Induced by Chemicals or Ionizing Radiation  

12. 5 Repair Systems Correct Some DNA Damage  

12. 6 Proteins Control Translesion DNA Synthesis and the Repair of
Double-Strand Breaks  

12. 7 DNA Double-Strand Breaks Initiate Homologous Recombination  

12. 8 Gene Conversion Is Directed Mismatch Repair in Heteroduplex
DNA  

Case Study Li-Fraumeni Syndrome Is Caused by Inheritance of Mutations of p53  

Summary • Keywords • Problems  

13 Chromosome Aberrations and Transposition  

13. 1 Nondisjunction Leads to Changes in Chromosome Number  

13. 2 Changes in Euploidy Result in Various Kinds of Polyploidy  

13. 3 Chromosome Breakage Causes Mutation by Loss, Gain, and
Rearrangement of Chromosomes  

13. 4 Chromosome Breakage Leads to Inversion and Translocation of
Chromosomes  

13. 5 Transposable Genetic Elements Move throughout the Genome 

13. 6 Transposition Modifies Bacterial Genomes  

13. 7 Transposition Modifies Eukaryotic Genomes  

Case Study Human Chromosome Evolution  

Summary • Keywords • Problems  

14 Regulation of Gene Expression in Bacteria and Bacteriophage  

14. 1 Transcriptional Control of Gene Expression Requires DNA—Protein
Interaction  

14. 2 The lac Operon Is an Inducible Operon System under Negative and
Positive Control  

14. 3 Mutational Analysis Deciphers Genetic Regulation of the lac Operon  

14. 4 Transcription from the Tryptophan Operon Is Repressible and
Attenuated  

14. 5 Bacteria Regulate the Transcription of Stress Response Genes and Translation and Archaea Regulate Transcription in a

Bacteria-like Manner  

14. 6 Antiterminators and Repressors Control Lambda Phage Infection of
E. coli  

Case Study Vibrio cholerae–Stress Response Leads to Serious Infection  

Summary • Keywords  • Problems  

15 Regulation of Gene Expression in Eukaryotes  

15. 1 Cis-Acting Regulatory Sequences Bind Trans-Acting Regulatory
Proteins to Control Eukaryotic Transcription  

Transcriptional Regulatory Interactions  

15. 2 Chromatin Remodeling and Modification Regulates Eukaryotic Transcription  

15. 3 RNA-Mediated Mechanisms Control Gene Expression  

Case Study Environmental Epigenetics  

Summary • Keywords  • Problems 

16 Analysis of Gene Function via Forward Genetics and Reverse Genetics  

16. 1 Forward Genetic Screens Identify Genes by Their Mutant Phenotypes  

16. 2 Genes Identified by Mutant Phenotype Are Cloned Using Recombinant DNA Technology  

16. 3 Reverse Genetics Investigates Gene Action by Progressing from Gene Identification to Phenotype 

16. 4 Transgenes Provide a Means of Dissecting Gene Function  

Case Study  Reverse Genetics and Genetic Redundancy in Flower Development  

Summary • Keywords • Problems  

17 Recombinant DNA Technology and Its Applications  

17. 1 Specific DNA Sequences Are Identified and Manipulated Using Recombinant DNA Technology  

17. 2 Introducing Foreign Genes into Genomes Creates Transgenic Organisms

17. 3 Gene Therapy Uses Recombinant DNA Technology

17. 4 Cloning of Plants and Animals Produces Genetically Identical
Individuals  

Case Study Curing Sickle Cell Disease in Mice 

Summary • Keywords  • Problems 

18 Genomics: Genetics from a Whole-Genome Perspective  

18. 1 Structural Genomics Provides a Catalog of Genes in a Genome  

18. 2 Annotation Ascribes Biological Function to DNA Sequences  

18. 3 Evolutionary Genomics Traces the History of Genomes  

18. 4 Functional Genomics Aids in Elucidating Gene Function  

Case Study Genomic Analysis of Insect Guts May Fuel the World  

Summary  • Keywords • Problems  

19 Organelle Inheritance and the Evolution of Organelle Genomes  

19. 1 Organelle Inheritance Transmits Genes Carried on Organelle Chromosomes  

19. 2 Modes of Organelle Inheritance Depend on the Organism  

19. 3 Mitochondria Are the Energy Factories of Eukaryotic Cells  

19. 4 Chloroplasts Are the Sites of Photosynthesis  

19. 5 The Endosymbiosis Theory Explains Mitochondrial and Chloroplast
Evolution  

Case Study Ototoxic Deafness: A Mitochondrial Gene—Environment Interaction  

Summary  • Keywords  • Problems  

20 Developmental Genetics  

20. 1 Development Is the Building of a Multicellular Organism  

20. 2 Drosophila Development Is a Paradigm for Animal Development 

20. 3 Cellular Interactions Specify Cell Fate  

20. 4 “Evolution Behaves Like a Tinkerer”  

20. 5 Plants Represent an Independent Experiment in Multicellular Evolution  

Case Study Cyclopia and Polydactyly–Different Shh Mutations with Distinctive Phenotypes  

Summary • Keywords • Problems  

21 Genetic Analysis of Quantitative Traits  

21. 1 Quantitative Traits Display Continuous Phenotype Variation 

21. 2 Quantitative Trait Analysis Is Statistical  

21. 3 Heritability Measures the Genetic Component of Phenotypic Variation  

21. 4 Quantitative Trait Loci Are the Genes That Contribute to Quantitative
Traits 

Case Study  GWAS and Crohn’s Disease   

Summary • Keywords • Problems  

22 Population Genetics and Evolution at the Population, Species, and Molecular Levels  

22. 1 The Hardy—Weinberg Equilibrium Describes the Relationship of Allele
and Genotype Frequencies in Populations 

22. 2 Natural Selection Operates through Differential Reproductive Fitness
within a Population  

22. 3 Mutation Diversifies Gene Pools  

22. 4 Migration Is Movement of Organisms and Genes between
Populations  

22. 5 Genetic Drift Causes Allele Frequency Change by Sampling Error  

22. 6 Inbreeding Alters Genotype Frequencies 

22. 7 Species and Higher Taxonomic Groups Evolve by the Interplay of Four
Evolutionary Processes  

22. 8 Molecular Evolution Changes Genes and Genomes through Time

Case Study CODIS–Using Population Genetics to Solve Crime and Identify Paternity  

Summary  • Keywords • Problems  

Selected References and Readings  

Answers to Selected Problems  

Glossary  

Credits  

Index