eBook [PDF] Concepts of Genetics, 12th Edition, By William Klug, Michael Cummings, Charlotte Spencer, Michael Palladino, Darrell Killian

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eBook [PDF] Concepts of Genetics, 12th Edition, By William Klug, Michael Cummings, Charlotte Spencer, Michael Palladino, Darrell Killian\ Concepts of Genetics Concepts of Genetics About the Authors... Dedication Brief Contents Explore Cutting-Edge Topics Explore the Latest Updates and Ethical Considerations Learn Genetics Concepts and Problem Solving with Mastering Genetics Access the text anytime, anywhere with Pearson eText Contents Preface Goals New to This Edition Continuing Pedagogic Features New and Updated Topics Strengths of This Edition Emphasis on Concepts Emphasis on Problem Solving For the Instructor For the Student Contributors Proofreaders and Accuracy Checking Editorial and Production Input 1 Introduction to Genetics CHAPTER CONCEPTS 1.1 Genetics Has a Rich and Interesting History 1600–1850: The Dawn of Modern Biology Charles Darwin and Evolution 1.2 Genetics Progressed from Mendel to DNA in Less Than a Century Mendel’s Work on Transmission of Traits The Chromosome Theory of Inheritance: Uniting Mendel and Meiosis Genetic Variation The Search for the Chemical Nature of Genes: DNA or Protein? 1.3 Discovery of the Double Helix Launched the Era of Molecular Genetics The Structure of DNA and RNA Gene Expression: From DNA to Phenotype Proteins and Biological Function Linking Genotype to Phenotype: Sickle-Cell Anemia 1.4 Development of Recombinant DNA Technology Began the Era of DNA Cloning 1.5 The Impact of Biotechnology Is Continually Expanding Plants, Animals, and the Food Supply Biotechnology in Genetics and Medicine 1.6 Genomics, Proteomics, and Bioinformatics Are New and Expanding Fields Modern Approaches to Understanding Gene Function 1.7 Genetic Studies Rely on the Use of Model Organisms The Modern Set of Genetic Model Organisms Model Organisms and Human Diseases 1.8 We Live in the Age of Genetics The Nobel Prize and Genetics Genetics, Ethics, and Society Summary Points Problems and Discussion Questions 2 Mitosis and Meiosis CHAPTER CONCEPTS 2.1 Cell Structure Is Closely Tied to Genetic Function 2.2 Chromosomes Exist in Homologous Pairs in Diploid Organisms 2.3 Mitosis Partitions Chromosomes into Dividing Cells Interphase and the Cell Cycle Prophase Prometaphase and Metaphase Anaphase Telophase Cell-Cycle Regulation and Checkpoints 2.4 Meiosis Creates Haploid Gametes and Spores and Enhances Genetic Variation in Species Meiosis: Prophase I Metaphase, Anaphase, and Telophase I The Second Meiotic Division 2.5 The Development of Gametes Varies in Spermatogenesis Compared to Oogenesis 2.6 Meiosis Is Critical to Sexual Reproduction in All Diploid Organisms 2.7 Electron Microscopy Has Revealed the Physical Structure of Mitotic and Meiotic Chromosomes Summary Points Problems and Discussion Questions Extra-Spicy Problems 3 Mendelian Genetics CHAPTER CONCEPTS 3.1 Mendel Used a Model Experimental Approach to Study Patterns of Inheritance 3.2 The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation Mendel’s First Three Postulates Modern Genetic Terminology Punnett Squares The Testcross: One Character 3.3 Mendel’s Dihybrid Cross Generated a Unique F2 Ratio Mendel’s Fourth Postulate: Independent Assortment The Testcross: Two Characters 3.4 The Trihybrid Cross Demonstrates That Mendel’s Principles Apply to Inheritance of Multiple Traits The Forked-Line Method, or Branch Diagram 3.5 Mendel’s Work Was Rediscovered in the Early Twentieth Century Unit Factors, Genes, and Homologous Chromosomes 3.6 Independent Assortment Leads to Extensive Genetic Variation 3.7 Laws of Probability Help to Explain Genetic Events 3.8 Chi-Square Analysis Evaluates the Influence of Chance on Genetic Data Chi-Square Calculations and the Null Hypothesis Interpreting Probability Values 3.9 Pedigrees Reveal Patterns of Inheritance of Human Traits Pedigree Conventions Pedigree Analysis 3.10 Mutant Phenotypes Have Been Examined at the Molecular Level How Mendel’s Peas Become Wrinkled: A Molecular Explanation Tay—Sachs Disease: The Molecular Basis of a Recessive Disorder in Humans Summary Points Problems and Discussion Questions Extra-Spicy Problems 4 Extensions of Mendelian Genetics CHAPTER CONCEPTS 4.1 Alleles Alter Phenotypes in Different Ways 4.2 Geneticists Use a Variety of Symbols for Alleles 4.3 Neither Allele Is Dominant in Incomplete, or Partial, Dominance 4.4 In Codominance, the Influence of Both Alleles in a Heterozygote Is Clearly Evident 4.5 Multiple Alleles of a Gene May Exist in a Population The ABO Blood Groups The A and B Antigens The Bombay Phenotype The white Locus in Drosophila 4.6 Lethal Alleles Represent Essential Genes The Molecular Basis of Dominance, Recessiveness, and Lethality: The agouti Gene 4.7 Combinations of Two Gene Pairs with Two Modes of Inheritance Modify the 9:3:3:1 Ratio 4.8 Phenotypes Are Often Affected by More Than One Gene Epistasis Novel Phenotypes Other Modified Dihybrid Ratios 4.9 Complementation Analysis Can Determine if Two Mutations Causing a Similar Phenotype Are Alleles of the Same Gene 4.10 Expression of a Single Gene May Have Multiple Effects 4.11 X-Linkage Describes Genes on the X Chromosome X-Linkage in Drosophila X-Linkage in Humans 4.12 In Sex-Limited and Sex-Influenced Inheritance, an Individual’s Sex Influences the Phenotype 4.13 Genetic Background and the Environment May Alter Phenotypic Expression Penetrance and Expressivity Genetic Background: Position Effects Temperature Effects—An Introduction to Conditional Mutations Nutritional Effects Onset of Genetic Expression Genetic Anticipation Summary Points Problems and Discussion Questions Extra-Spicy Problems 5 Chromosome Mapping in Eukaryotes CHAPTER CONCEPTS 5.1 Genes Linked on the Same Chromosome Segregate Together The Linkage Ratio 5.2  Crossing Over Serves as the Basis for Determining the Distance between Genes in Chromosome Mapping Morgan and Crossing Over Sturtevant and Mapping Single Crossovers 5.3 Determining the Gene Sequence during Mapping Requires the Analysis of Multiple Crossovers Multiple Exchanges Three-Point Mapping in Drosophila Determining the Gene Sequence An Autosomal Mapping Problem in Maize 5.4 As the Distance between Two Genes Increases, Mapping Estimates Become More Inaccurate Interference and the Coefficient of Coincidence 5.5 Drosophila Genes Have Been Extensively Mapped 5.6 Lod Score Analysis and Somatic Cell Hybridization Were Historically Important in Creating Human Chromosome Maps 5.7 Chromosome Mapping Is Currently Performed Using DNA Markers and Annotated Computer Databases 5.8 Crossing Over Involves a Physical Exchange between Chromatids 5.9 Exchanges Also Occur between Sister Chromatids during Mitosis Summary Points Problems and Discussion Questions Extra-Spicy Problems 6 Genetic Analysis and Mapping in Bacteria and Bacteriophages CHAPTER CONCEPTS 6.1 Bacteria Mutate Spontaneously and Grow at an Exponential Rate 6.2 Genetic Recombination Occurs in Bacteria Conjugation in Bacteria: The Discovery of F+ and F– Strains Hfr Bacteria and Chromosome Mapping Recombination in F+ × F– Matings: A Reexamination The F′ State and Merozygotes 6.3 The F Factor Is an Example of a Plasmid 6.4 Transformation Is a Second Process Leading to Genetic Recombination in Bacteria The Transformation Process Transformation and Linked Genes 6.5 Bacteriophages Are Bacterial Viruses Phage T4: Structure and Life Cycle The Plaque Assay Lysogeny 6.6 Transduction Is Virus-Mediated Bacterial DNA Transfer The Lederberg–Zinder Experiment Transduction and Mapping 6.7 Bacteriophages Undergo Intergenic Recombination Bacteriophage Mutations Mapping in Bacteriophages 6.8 Intragenic Recombination Occurs in Phage T4 The rII Locus of Phage T4 Complementation by rII Mutations Recombinational Analysis Deletion Testing of the rII Locus The rII Gene Map Summary Points Problems and Discussion Questions Extra-Spicy Problems 7 Sex Determination and Sex Chromosomes CHAPTER CONCEPTS 7.1 X and Y Chromosomes Were First Linked to Sex Determination Early in the Twentieth Century 7.2 The Y Chromosome Determines Maleness in Humans Klinefelter and Turner Syndromes 47,XXX Syndrome 47,XYY Condition Sexual Differentiation in Humans The Y Chromosome and Male Development 7.3 The Ratio of Males to Females in Humans Is Not 1.0 7.4 Dosage Compensation Prevents Excessive Expression of X-Linked Genes in Humans and Other Mammals Barr Bodies The Lyon Hypothesis The Mechanism of Inactivation 7.5 The Ratio of X Chromosomes to Sets of Autosomes Can Determine Sex D. melanogaster Caenorhabditis elegans 7.6 Temperature Variation Controls Sex Determination in Many Reptiles Summary Points Problems and Discussion Questions Extra-Spicy Problems 8 Chromosomal Mutations: Variation in Number and Arrangement CHAPTER CONCEPTS 8.1 Variation in Chromosome Number: Terminology and Origin 8.2 Monosomy and Trisomy Result in a Variety of Phenotypic Effects Monosomy Trisomy Down Syndrome: Trisomy 21 The Down Syndrome Critical Region (DSCR) The Origin of the Extra Chromosome 21 in Down Syndrome Human Aneuploidy 8.3 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plants Autopolyploidy Allopolyploidy Endopolyploidy 8.4 Variation Occurs in the Composition and Arrangement of Chromosomes 8.5 A Deletion Is a Missing Region of a Chromosome Cri du Chat Syndrome in Humans 8.6 A Duplication Is a Repeated Segment of a Chromosome Gene Redundancy and Amplification—Ribosomal RNA Genes The Bar Mutation in Drosophila The Role of Gene Duplication in Evolution Duplications at the Molecular Level: Copy Number Variations (CNVs) 8.7 Inversions Rearrange the Linear Gene Sequence Consequences of Inversions during Gamete Formation Evolutionary Advantages of Inversions 8.8 Translocations Alter the Location of Chromosomal Segments in the Genome Translocations in Humans: Familial Down Syndrome 8.9 Fragile Sites in Human Chromosomes Are Susceptible to Breakage Fragile-X Syndrome The Link between Fragile Sites and Cancer Summary Points Problems and Discussion Questions Extra-Spicy Problems 9 Extranuclear Inheritance CHAPTER CONCEPTS 9.1 Organelle Heredity Involves DNA in Chloroplasts and Mitochondria Chloroplasts: Variegation in Four O’Clock Plants Chloroplast Mutations in Chlamydomonas Mitochondrial Mutations: Early Studies in Neurospora and Yeast 9.2 Knowledge of Mitochondrial and Chloroplast DNA Helps Explain Organelle Heredity Organelle DNA and the Endosymbiotic Theory Molecular Organization and Gene Products of Chloroplast DNA Molecular Organization and Gene Products of Mitochondrial DNA 9.3 Mutations in Mitochondrial DNA Cause Human Disorders Mitochondria, Human Health, and Aging Future Prevention of the Transmission of mtDNA-Based Disorders 9.4 In Maternal Effect, the Maternal Genotype Has a Strong Influence during Early Development Lymnaea Coiling Embryonic Development in Drosophila Summary Points Problems and Discussion Questions Extra-Spicy Problems 10 DNA Structure and Analysis CHAPTER CONCEPTS 10.1 The Genetic Material Must Exhibit Four Characteristics 10.2 Until 1944, Observations Favored Protein as the Genetic Material 10.3 Evidence Favoring DNA as the Genetic Material Was First Obtained during the Study of Bacteria and Bacteriophages Transformation: Early Studies Transformation: The Avery, MacLeod, and McCarty Experiment The Hershey–Chase Experiment Transfection Experiments 10.4 Indirect and Direct Evidence Supports the Concept That DNA Is the Genetic Material in Eukaryotes Indirect Evidence: Distribution of DNA Indirect Evidence: Mutagenesis Direct Evidence: Recombinant DNA Studies 10.5 RNA Serves as the Genetic Material in Some Viruses 10.6 Knowledge of Nucleic Acid Chemistry Is Essential to the Understanding of DNA Structure Nucleotides: Building Blocks of Nucleic Acids Nucleoside Diphosphates and Triphosphates Polynucleotides 10.7 The Structure of DNA Holds the Key to Understanding Its Function Base-Composition Studies X-Ray Diffraction Analysis The Watson–Crick Model 10.8 Alternative Forms of DNA Exist 10.9 The Structure of RNA Is Chemically Similar to DNA, but Single Stranded 10.10 Many Analytical Techniques Have Been Useful during the Investigation of DNA and RNA Electrophoresis Summary Points Problems and Discussion Questions Extra-Spicy Problems 11 DNA Replication and Recombination CHAPTER CONCEPTS 11.1 DNA Is Reproduced by Semiconservative Replication The Meselson–Stahl Experiment Semiconservative Replication in Eukaryotes Origins, Forks, and Units of Replication 11.2 DNA Synthesis in Bacteria Involves Five Polymerases, as Well as Other Enzymes DNA Polymerase I DNA Polymerase II, III, IV, and V The DNA Pol III Holoenzyme 11.3 Many Complex Issues Must Be Resolved during DNA Replication Unwinding the DNA Helix Initiation of DNA Synthesis Using an RNA Primer Continuous and Discontinuous DNA Synthesis Concurrent Synthesis Occurs on the Leading and Lagging Strands Proofreading and Error Correction Occurs during DNA Replication 11.4 A Coherent Model Summarizes DNA Replication 11.5 Replication Is Controlled by a Variety of Genes 11.6 Eukaryotic DNA Replication Is Similar to Replication in Bacteria, but Is More Complex Initiation at Multiple Replication Origins Multiple Eukaryotic DNA Polymerases Replication through Chromatin 11.7 Telomeres Solve Stability and Replication Problems at Eukaryotic Chromosome Ends Telomere Structure and Chromosome Stability Telomeres and Chromosome End Replication Telomeres in Disease, Aging, and Cancer 11.8 Recombination Is Essential for Genetic Exchange and DNA Repair Models of Homologous Recombination Summary Points Problems and Discussion Questions Extra-Spicy Problems 12 DNA Organization in Chromosomes CHAPTER CONCEPTS 12.1 Viral and Bacterial Chromosomes Are Relatively Simple DNA Molecules 12.2 Supercoiling Facilitates Compaction of the DNA of Viral and Bacterial Chromosomes 12.3 Specialized Chromosomes Reveal Variations in the Organization of DNA Polytene Chromosomes Lampbrush Chromosomes 12.4 DNA Is Organized into Chromatin in Eukaryotes Chromatin Structure and Nucleosomes Chromatin Remodeling Heterochromatin 12.5 Chromosome Banding Differentiates Regions along the Mitotic Chromosome 12.6 Eukaryotic Genomes Demonstrate Complex Sequence Organization Characterized by Repetitive DNA Satellite DNA Centromeric DNA Sequences Middle Repetitive Sequences: VNTRs and STRs Repetitive Transposed Sequences: SINEs and LINEs Middle Repetitive Multiple-Copy Genes 12.7 The Vast Majority of a Eukaryotic Genome Does Not Encode Functional Genes Summary Points Problems and Discussion Questions Extra-Spicy Problems 13 The Genetic Code and Transcription CHAPTER CONCEPTS 13.1 The Genetic Code Uses Ribonucleotide Bases as “Letters” 13.2 Early Studies Established the Basic Operational Patterns of the Code The Triplet Nature of the Code 13.3 Studies by Nirenberg, Matthaei, and Others Led to Deciphering of the Code Synthesizing Polypeptides in a Cell-Free System Homopolymer Codes The Use of Mixed Heteropolymers The Triplet Binding Assay Repeating Copolymers 13.4 The Coding Dictionary Reveals Several Interesting Patterns among the 64 Codons Degeneracy and the Wobble Hypothesis The Ordered Nature of the Code Punctuating the Code: Initiation and Termination Codons 13.5 The Genetic Code Has Been Confirmed in Studies of Phage MS2 13.6 The Genetic Code Is Nearly Universal 13.7 Different Initiation Points Create Overlapping Genes 13.8 Transcription Synthesizes RNA on a DNA Template 13.9 RNA Polymerase Directs RNA Synthesis Promoters, Template Binding, and the σ Subunit Initiation, Elongation, and Termination of RNA Synthesis in Bacteria 13.10 Transcription in Eukaryotes Differs from Bacterial Transcription in Several Ways Initiation of Transcription in Eukaryotes Recent Discoveries Concerning Eukaryotic RNA Polymerase Function Processing Eukaryotic RNA: Caps and Tails 13.11 The Coding Regions of Eukaryotic Genes Are Interrupted by Intervening Sequences Called Introns Why Do Introns Exist? Splicing Mechanisms: Self-Splicing RNAs Splicing Mechanisms: The Spliceosome 13.12 RNA Editing May Modify the Final Transcript 13.13 Transcription Has Been Visualized by Electron Microscopy Summary Points Problems and Discussion Questions Extra-Spicy Problems 14 Translation and Proteins CHAPTER CONCEPTS 14.1 Translation of mRNA Depends on Ribosomes and Transfer RNAs Ribosomal Structure tRNA Structure Charging tRNA 14.2 Translation of mRNA Can Be Divided into Three Steps Initiation Elongation Termination Polyribosomes 14.3 High-Resolution Studies Have Revealed Many Details about the Functional Bacterial Ribosome 14.4 Translation Is More Complex in Eukaryotes 14.5 The Initial Insight That Proteins Are Important in Heredity Was Provided by the Study of Inborn Errors of Metabolism Phenylketonuria 14.6 Studies of Neurospora Led to the One-Gene:One-Enzyme Hypothesis Analysis of Neurospora Mutants by Beadle and Tatum Genes and Enzymes: Analysis of Biochemical Pathways 14.7 Studies of Human Hemoglobin Established That One Gene Encodes One Polypeptide Sickle-Cell Anemia 14.8 Variation in Protein Structure Provides the Basis of Biological Diversity 14.9 Posttranslational Modification Alters the Final Protein Product Protein Folding and Misfolding 14.10 Proteins Perform Many Diverse Roles 14.11 Proteins Often Include More Than One Functional Domain Exon Shuffling Summary Points Problems and Discussion Questions Extra-Spicy Problems 15 Gene Mutation, DNA Repair, and Transposition CHAPTER CONCEPTS 15.1 Gene Mutations Are Classified in Various Ways Classification Based on Type of Molecular Change Classification Based on Effect on Function Classification Based on Location of Mutation 15.2 Mutations Occur Spontaneously and Randomly Spontaneous and Induced Mutations Spontaneous Germ-Line Mutation Rates in Humans Spontaneous Somatic Mutation Rates in Humans The Fluctuation Test: Are Mutations Random or Adaptive? 15.3 Spontaneous Mutations Arise from Replication Errors and Base Modifications DNA Replication Errors and Slippage Tautomeric Shifts Depurination and Deamination Oxidative Damage Transposable Elements 15.4 Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation Base Analogs Alkylating, Intercalating, and Adduct-Forming Agents Ultraviolet Light Ionizing Radiation 15.5 Single-Gene Mutations Cause a Wide Range of Human Diseases Single-Gene Mutations and β-Thalassemia Mutations Caused by Expandable DNA Repeats 15.6 Organisms Use DNA Repair Systems to Counteract Mutations Proofreading and Mismatch Repair Postreplication Repair and the SOS Repair System Photoreactivation Repair: Reversal of UV Damage Base and Nucleotide Excision Repair Nucleotide Excision Repair and Xeroderma Pigmentosum in Humans Double-Strand Break Repair in Eukaryotes 15.7 The Ames Test Is Used to Assess the Mutagenicity of Compounds 15.8 Transposable Elements Move within the Genome and May Create Mutations DNA Transposons DNA Transposons—the Ac–Ds System in Maize Retrotransposons Retrotransposons—the Copia –White-Apricot System in Drosophila Transposable Elements in Humans Transposable Elements, Mutations, and Evolution Summary Points Problems and Discussion Questions Extra-Spicy Problems 16 Regulation of Gene Expression in Bacteria CHAPTER CONCEPTS 16.1 Bacteria Regulate Gene Expression in Response to Environmental Conditions 16.2 Lactose Metabolism in E. coli Is Regulated by an Inducible System Structural Genes The Discovery of Regulatory Mutations The Operon Model: Negative Control Genetic Proof of the Operon Model Isolation of the Repressor 16.3 The Catabolite-Activating Protein (CAP) Exerts Positive Control over the lac Operon 16.4 Crystal Structure Analysis of Repressor Complexes Has Confirmed the Operon Model 16.5 The Tryptophan (trp) Operon in E. coli Is a Repressible Gene System Evidence for the trp Operon 16.6 RNA Plays Diverse Roles in Regulating Gene Expression in Bacteria Attenuation Riboswitches Small Noncoding RNAs Play Regulatory Roles in Bacteria Summary Points Problems and Discussion Questions Extra-Spicy Problems 17 Transcriptional Regulation in Eukaryotes CHAPTER CONCEPTS 17.1 Organization of the Eukaryotic Cell Facilitates Gene Regulation at Several Levels 17.2 Eukaryotic Gene Expression Is Influenced by Chromatin Modifications Chromosome Territories and Transcription Factories Open and Closed Chromatin Histone Modifications and Chromatin Remodeling DNA Methylation 17.3 Eukaryotic Transcription Initiation Requires Specific Cis-Acting Sites Promoters and Promoter Elements Enhancers, Insulators, and Silencers 17.4 Eukaryotic Transcription Initiation Is Regulated by Transcription Factors That Bind to Cis-Acting Sites The Human Metallothionein 2A Gene: Multiple Cis-Acting Elements and Transcription Factors Functional Domains of Eukaryotic Transcription Factors 17.5 Activators and Repressors Interact with General Transcription Factors and Affect Chromatin Structure Formation of the RNA Polymerase II Transcription Initiation Complex Mechanisms of Transcription Activation and Repression 17.6 Gene Regulation in a Model Organism: Transcription of the GAL Genes of Yeast 17.7 ENCODE Data Are Transforming Our Concepts of Eukaryotic Gene Regulation Enhancer and Promoter Elements Transcripts and Noncoding RNA Many Disease-Associated Genome Variations Affect Regulatory Regions Summary Points Problems and Discussion Questions Extra-Spicy Problems 18 Posttranscriptional Regulation in Eukaryotes CHAPTER CONCEPTS 18.1 Regulation of Alternative Splicing Determines Which RNA Spliceforms of a Gene Are Translated Types of Alternative Splicing Alternative Splicing and the Proteome Regulation of Alternative Splicing Sex Determination in Drosophila: A Model for Regulation of Alternative Splicing Alternative Splicing and Human Diseases 18.2 Gene Expression Is Regulated by mRNA Stability and Degradation Mechanisms of mRNA Decay Regulation of mRNA Stability and Degradation mRNA Surveillance and Nonsense-Mediated Decay 18.3 Noncoding RNAs Play Diverse Roles in Posttranscriptional Regulation The Discovery of RNA Interference and microRNAs Mechanisms of RNA Interference Small Interfering RNAs microRNAs RNA Interference in Research, Biotechnology, and Medicine Long Noncoding RNAs and Posttranscriptional Regulation Circular RNAs 18.4 mRNA Localization and Translation Initiation Are Highly Regulated Cytoplasmic Polyadenylation mRNA Localization and Localized Translational Control 18.5 Posttranslational Modifications Regulate Protein Activity Regulation of Proteins by Phosphorylation Ubiquitin-Mediated Protein Degradation Summary Points Problems and Discussion Questions Extra-Spicy Problems 19 Epigenetic Regulation of Gene Expression CHAPTER CONCEPTS 19.1 Molecular Alterations to the Genome Create an Epigenome DNA Methylation and the Methylome Histone Modification and Chromatin Remodeling Short and Long Noncoding RNAs 19.2 Epigenetics and Monoallelic Gene Expression Parent-of-Origin Monoallelic Expression: Imprinting Random Monoallelic Expression: Inactivation of the X Chromosome Random Monoallelic Expression of Autosomal Genes Assisted Reproductive Technologies (ART) and Imprinting Defects 19.3 Epigenetics and Cancer DNA Methylation and Cancer Chromatin Remodeling and Histone Modification in Cancer Epigenetic Cancer Therapy 19.4 Epigenetic Traits Are Heritable Environmental Induction of Epigenetic Change Stress-Induced Behavior Is Heritable 19.5 Epigenome Projects and Databases Summary Points Problems and Discussion Questions Extra-Spicy Problems 20 Recombinant DNA Technology CHAPTER CONCEPTS 20.1 Recombinant DNA Technology Began with Two Key Tools: Restriction Enzymes and Cloning Vectors Restriction Enzymes Cut DNA at Specific Recognition Sequences DNA Vectors Accept and Replicate DNA ­Molecules to Be Cloned Bacterial Plasmid Vectors Other Types of Cloning Vectors Host Cells for Cloning Vectors 20.2 DNA Libraries Are Collections of Cloned Sequences Genomic Libraries Complementary DNA (cDNA) Libraries Specific Genes Can Be Recovered from a Library by Screening 20.3 The Polymerase Chain Reaction Is a Powerful Technique for Copying DNA PCR Limitations PCR Applications 20.4 Molecular Techniques for Analyzing DNA and RNA Restriction Mapping Nucleic Acid Blotting In Situ Hybridization 20.5 DNA Sequencing Is the Ultimate Way to Characterize DNA at the Molecular Level Sequencing Technologies Have Progressed Rapidly Next-Generation Sequencing Technology Third-Generation Sequencing Technology DNA Sequencing and Genomics 20.6 Creating Knockout and Transgenic Organisms for Studying Gene Function Gene Targeting and Knockout Animal Models Making a Transgenic Animal: The Basics Gene Editing with CRISPR-Cas Summary Points Problems and Discussion Questions Extra-Spicy Problems 21 Genomic Analysis CHAPTER CONCEPTS 21.1 Genomic Analysis Before Modern Sequencing Methods Involved Classical Genetics Approaches and Cloning to Map One or a Few Genes at a Time 21.2 Whole-Genome Sequencing Is Widely Used for Sequencing and Assembling Entire Genomes High-Throughput Sequencing and Its Impact on Genomics The Clone-by-Clone Approach Draft Sequences and Reference Genomes 21.3 DNA Sequence Analysis Relies on Bioinformatics Applications and Genome Databases Annotation to Identify Gene Sequences Hallmark Characteristics of a Gene Sequence Can Be Recognized during Annotation 21.4 Functional Genomics Establishes Gene Function and Identifies Regulatory Elements in a Genome Predicting Gene and Protein Functions by Sequence Analysis Predicting Function from Structural Analysis of Protein Domains and Motifs Investigators Are Using Genomics Techniques Such as Chromatin Immunoprecipitation to Investigate Aspects of Genome Function and Regulation 21.5 The Human Genome Project Revealed Many Important Aspects of Genome Organization in Humans Origins of the Project Major Features of the Human Genome Individual Variations in the Human Genome Accessing the Human Genome Project on the Internet 21.6 The “Omics” Revolution Has Created a New Era of Biological Research After the HGP, What’s Next? Personal Genome Projects Somatic Genome Mosaicism and the Emerging Pangenome Whole-Exome Sequencing Encyclopedia of DNA Elements (ENCODE) Project Nutrigenomics Considers Genetics and Diet No Genome Left Behind and the Genome 10K Plan Stone-Age Genomics 21.7 Comparative Genomics Analyzes and Compares Genomes from Different Organisms Bacterial and Eukaryotic Genomes Display Common Structural and Functional Features and Important Differences Comparative Genomics Provides Novel Information about the Genomes of Model Organisms and the Human Genome The Sea Urchin Genome The Dog Genome The Chimpanzee Genome The Rhesus Monkey Genome The Neanderthal Genome and Modern Humans 21.8 Metagenomics Applies Genomics Techniques to Environmental Samples The Human Microbiome Project 21.9 Transcriptome Analysis Reveals Profiles of Expressed Genes in Cells and Tissues DNA Microarray Analysis RNA Sequencing Technology Allows for In Situ Analysis of Gene Expression 21.10 Proteomics Identifies and Analyzes the Protein Composition of Cells Reconciling the Number of Genes and the Number of Proteins Expressed by a Cell or Tissue Mass Spectrometry for Protein Identification Summary Points Problems and Discussion Questions Extra-Spicy Problems 22 Applications of Genetic Engineering and Biotechnology CHAPTER CONCEPTS 22.1 Genetically Engineered Organisms Synthesize a Variety of Valuable Biopharmaceutical Products Recombinant Protein Production in Bacteria Transgenic Animal Hosts and Biopharmaceutical Products Recombinant DNA Approaches for Vaccine Production Vaccine Proteins Can Be Produced by Plants DNA-Based Vaccines 22.2 Genetic Engineering of Plants Has Revolutionized Agriculture 22.3 Genetically Modified Animals Serve Important Roles in Biotechnology Examples of Transgenic Animals 22.4 Genetic Testing, Including Genomic Analysis, Is Transforming Medical Diagnosis Genetic Testing for Prognostic or Diagnostic Purposes Prenatal Genetic Testing Genetic Testing Using Allele-Specific Oligonucleotides Genetic Testing Using Microarrays Applications of Gene-Expression Microarrays and Next­Generation Sequencing for Pathogen Identification Screening the Genome for Genes or Mutations You Want 22.5 Genetic Analysis of Individual Genomes 22.6 Genetic Analysis from Single Cells 22.7 Genome-Wide Association Studies Identify Genome Variations That Contribute to Disease 22.8 Synthetic Genomes and the Emergence of Synthetic Biology The Minimal Genome: How Many Essential Genes Are Required by a Living Cell? Design and Transplantation of a Synthetic Genome Defines the Minimal Bacterial Genome The Essential Genes of Human Cells and the Quest to Create a Synthetic Human Genome Synthetic Biology for Bioengineering Applications 22.9 Genetic Engineering, Genomics, and Biotechnology Raise Ethical, Social, and Legal Questions Genetic Testing and Ethical Dilemmas Direct-to-Consumer Genetic Testing and Regulating the Genetic Test Providers DNA and Gene Patents Whole-Genome Sequence Analysis Presents Many Questions of Ethics Preconception Testing, Destiny Predictions, and Baby-Predicting Patents Patents and Synthetic Biology Summary Points Problems and Discussion Questions Extra-Spicy Problems 23 Developmental Genetics CHAPTER CONCEPTS 23.1 Differentiated States Develop from Coordinated Programs of Gene Expression Genetic and Epigenetic Regulation of Development 23.2 Evolutionary Conservation of Developmental Mechanisms Can Be Studied Using Model Organisms Analysis of Developmental Mechanisms 23.3 Genetic Analysis of Embryonic Development in Drosophila Reveals How the Body Axis of Animals Is Specified Overview of Drosophila Development Genetic Analysis of Embryogenesis 23.4 Segment Formation and Body Plans in Drosophila and Mammals Gap Genes Pair-Rule Genes Segment Polarity Genes Segmentation Genes in Mice and Humans 23.5 Homeotic Selector Genes Specify Body Parts of the Adult Hox Genes in Drosophila Hox Genes and Human Genetic Disorders 23.6 Plants Have Evolved Developmental Regulatory Systems That Parallel Those of Animals Homeotic Genes in Arabidopsis Divergence in Homeotic Genes 23.7 C. elegans Serves as a Model for Cell–Cell Interactions in Development Signaling Pathways in Development The Notch Signaling Pathway Overview of C. elegans Development Genetic Analysis of Vulva Formation 23.8 Binary Switch Genes and Regulatory Networks Program Genomic Expression The Control of Eye Formation Summary Points Problems and Discussion Questions Extra-Spicy Problems 24 Cancer Genetics CHAPTER CONCEPTS 24.1 Cancer Is a Genetic Disease at the Level of Somatic Cells What Is Cancer? The Clonal Origin of Cancer Cells Driver Mutations and Passenger Mutations The Cancer Stem Cell Hypothesis Cancer as a Multistep Process, Requiring Multiple Mutations and Clonal Expansions 24.2 Cancer Cells Contain Genetic Defects Affecting Genomic Stability, DNA Repair, and Chromatin Modifications Genomic Instability and Defective DNA Repair Chromatin Modifications and Cancer Epigenetics 24.3 Cancer Cells Contain Genetic Defects Affecting Cell-Cycle Regulation The Cell Cycle and Signal Transduction Cell-Cycle Control and Checkpoints Control of Apoptosis Cancer Therapies and Cancer Cell Biology 24.4 Proto-oncogenes and Tumor-Suppressor Genes Are Altered in Cancer Cells The ras Proto-oncogenes The TP53 Tumor-Suppressor Gene 24.5 Cancer Cells Metastasize and Invade Other Tissues 24.6 Predisposition to Some Cancers Can Be Inherited 24.7 Viruses Contribute to Cancer in Both Humans and Animals 24.8 Environmental Agents Contribute to Human Cancers Natural Environmental Agents Human-Made Chemicals and Pollutants Tobacco Smoke and Cancer Summary Points Problems and Discussion Questions Extra-Spicy Problems 25 Quantitative Genetics and Multifactorial Traits CHAPTER CONCEPTS 25.1 Not All Polygenic Traits Show Continuous Variation 25.2 Quantitative Traits Can Be Explained in Mendelian Terms The Multiple-Gene Hypothesis for Quantitative Inheritance Additive Alleles: The Basis of Continuous Variation Calculating the Number of Polygenes 25.3 The Study of Polygenic Traits Relies on Statistical Analysis The Mean Variance Standard Deviation Standard Error of the Mean Covariance and Correlation Coefficient Analysis of a Quantitative Character 25.4 Heritability Values Estimate the Genetic Contribution to Phenotypic Variability Broad-Sense Heritability Narrow-Sense Heritability Artificial Selection Limitations of Heritability Studies 25.5 Twin Studies Allow an Estimation of Heritability in Humans Large-Scale Analysis of Twin Studies Twin Studies Have Several Limitations 25.6 Quantitative Trait Loci Are Useful in Studying Multifactorial Phenotypes Expression QTLs Regulate Gene Expression Expression QTLs and Genetic Disorders Summary Points Problems and Discussion Questions Extra-Spicy Problems 26 Population and Evolutionary Genetics CHAPTER CONCEPTS 26.1 Genetic Variation Is Present in Most Populations and Species Detecting Genetic Variation Recombinant DNA Technology and Genetic Variation Genetic Variation in Genomes Explaining the High Level of Genetic Variation in Populations 26.2 The Hardy–Weinberg Law Describes Allele Frequencies and Genotype Frequencies in Population Gene Pools Calculating Genotype Frequencies Calculating Allele Frequencies The Hardy–Weinberg Law and Its Assumptions 26.3 The Hardy–Weinberg Law Can Be Applied to Human Populations Testing for Hardy–Weinberg Equilibrium in a Population Calculating Frequencies for Multiple Alleles in Populations Calculating Allele Frequencies for X-linked Traits Calculating Heterozygote Frequency 26.4 Natural Selection Is a Major Force Driving Allele Frequency Change Detecting Natural Selection in Populations Fitness and Selection There Are Several Types of Selection 26.5 Mutation Creates New Alleles in a Gene Pool 26.6 Migration and Gene Flow Can Alter Allele Frequencies 26.7 Genetic Drift Causes Random Changes in Allele Frequency in Small Populations Founder Effects in Human Populations 26.8 Nonrandom Mating Changes Genotype Frequency but Not Allele Frequency Inbreeding 26.9 Speciation Can Occur through Reproductive Isolation Changes Leading to Speciation The Rate of Macroevolution and Speciation 26.10 Phylogeny Can Be Used to Analyze Evolutionary History Constructing Phylogenetic Trees from DNA Sequences Reconstructing Vertebrate Evolution by ­Phylogenetic Analysis Molecular Clocks Measure the Rate of Evolutionary Change The Complex Origins of the Human Genome Summary Points Problems and Discussion Questions Extra-Spicy Problems Special Topics in Modern Genetics 1 CRISPR-Cas and Genome Editing ST 1.1 CRISPR-Cas Is an Adaptive Immune System in Prokaryotes Discovery of CRISPR The CRISPR-Cas Mechanism for RNA-Guided Destruction of Invading DNA Type II CRISPR-Cas Systems ST 1.2 CRISPR-Cas has been Adapted as a Powerful Tool for Genome Editing CRISPR-Cas9 In Vitro CRISPR-Cas9 Genome Editing of Mammalian Cells CRISPR-Cas Infidelity ST 1.3 CRISPR-Cas Technology Has Diverse Applications CRISPR-Cas as a Tool for Basic Genetic Research CRISPR-Cas in Biotechnology Clinical Use of CRISPR-Cas to Treat or Cure Disease Selected Readings and Resources Journal Articles Web Sites Review Questions Discussion Questions Special Topics in Modern Genetics 2 DNA Forensics ST 2.1 DNA Profiling Methods VNTR-Based DNA Fingerprinting Autosomal STR DNA Profiling Y-Chromosome STR Profiling Mitochondrial DNA Profiling Single-Nucleotide Polymorphism Profiling DNA Phenotyping ST 2.2 Interpreting DNA Profiles The Uniqueness of DNA Profiles DNA Profile Databases ST 2.3 Technical and Ethical Issues Surrounding DNA Profiling Selected Readings and Resources Journal Articles Web Sites Review Questions Discussion Questions Special Topics in Modern Genetics 3 Genomics and Precision Medicine ST 3.1 Pharmacogenomics Optimizing Drug Responses Developing Targeted Drugs ST 3.2 Precision Oncology Targeted Cancer Immunotherapies Adoptive cell transfer  Immunotherapy with genetically engineered T Cells  ST 3.3 Precision Medicine and Disease Diagnostics ST 3.4 Technical, Social, and Ethical Challenges Selected Readings and Resources Journal Articles Review Questions Discussion Questions Special Topics in Modern Genetics 4 Genetically Modified Foods ST 4.1 What Are GM Foods? Herbicide-Resistant GM Crops Insect-Resistant GM Crops GM Crops for Direct Consumption ST 4.2 Methods Used to Create GM Plants Selectable Markers Roundup-Ready® Soybeans Golden Rice 2 Gene Editing and GM Foods ST 4.3 GM Foods Controversies Health and Safety Environmental Effects ST 4.4 The Future of GM Foods Selected Readings and Resources Journal Articles Web Sites Review Questions Discussion Questions Special Topics in Modern Genetics 5 Gene Therapy ST 5.1 What Genetic Conditions Are Candidates for Treatment by Gene Therapy? ST 5.2 How Are Therapeutic Genes Delivered? Viral Vectors for Gene Therapy Nonviral Delivery Methods Stem Cells for Delivering Therapeutic Genes ST 5.3 The First Successful Gene Therapy Trial ST 5.4 Gene Therapy Setbacks Problems with Gene Therapy Vectors ST 5.5 Recent Successful Trials by Conventional Gene Therapy Approaches Treating Retinal Blindness Successful Treatment of Hemophilia B HIV as a Vector Shows Promise in Recent Trials ST 5.6 Gene Editing Approaches to Gene Therapy DNA-Editing Nucleases CRISPR-Cas Method Revolutionizes Gene Editing Applications and Renews Optimism in Gene Therapy RNA-Based Therapeutics ST 5.7 Future Challenges and Ethical Issues Ethical Concerns Surrounding Gene Therapy Selected Readings and Resources Journal Articles Review Questions Discussion Questions Special Topics in Modern Genetics 6 Advances in Neurogenetics: The Study of Huntington Disease ST 6.1 The Search for the Huntington Gene Finding Linkage between Huntington Disease and an RFLP Marker Assigning the HD Gene to Chromosome 4 The Identification and Cloning of the Huntington Gene ST 6.2 The HTT Gene and Its Protein Product ST 6.3 Molecular and Cellular Alterations in Huntington Disease Transcriptional Disruption Impaired Protein Folding and Degradation Synaptic Dysfunction Impaired Mitochondrial Function ST 6.4 Transgenic Animal Models of Huntington Disease Using Transgenic Mice to Study Huntington Disease Transgenic Sheep as an Animal Model of Huntington Disease ST 6.5 Cellular and Molecular Approaches to Therapy Stem Cells for Transplantation Identifying Potential Drugs for Therapy Gene Silencing to Reduce mHTT Levels Gene Editing in Huntington Disease ST 6.6 The Relationship between HD and Other Neurodegenerative Disorders Selected Readings and Resources Journal Articles Review Questions Discussion Questions Appendix A Selected Readings Appendix B Answers to Selected Problems Chapter 1 Chapter 2 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 3 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 4 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 5 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 6 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 7 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 8 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 9 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 10 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 11 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 12 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 13 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 14 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 15 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 16 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 17 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 18 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 19 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 20 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 21 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 22 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 23 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 24 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 25 Answers to Now Solve This Solutions to Problems and Discussion Questions Chapter 26 Answers to Now Solve This Solutions to Problems and Discussion Questions Special Topic 1 Review Question Answers Discussion Question Answers Special Topic 2 Review Question Answers Discussion Question Answers Special Topic 3 Review Question Answers Discussion Question Answers Special Topic 4 Review Question Answers Discussion Question Answer Special Topic 5 Review Question Answers Discussion Question Answers Special Topic 6 Review Question Answers Discussion Question Answers Glossary Credits Photo Credits About the Authors Chapter 1: Chapter 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6 Chapter 7 Chapter 8 Chapter 9 Chapter 10 Chapter 11 Chapter 12 Chapter 13 Chapter 14 Chapter 15 Chapter 17 Chapter 18 Chapter 19 Chapter 20 Chapter 21 Chapter 22 Chapter 23 Chapter 24 Chapter 25 Chapter 26 ST4 ST6 Text Credits Chapter 5: Chapter 6 Chapter 7 Chapter 8 Chapter 10 Chapter 11 Chapter 13 Chapter 14 Chapter 18 Chapter 19 Chapter 20 Chapter 21 Chapter 22 Chapter 23 Chapter 24 Chapter 25 Chapter 26 [Show More]

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