(Ebook PDF) Concepts of Genetics 12th Edition by William S Klug, Michael Cummings, Charlotte Spencer, Michael Palladino, Darrell Killian 0134818954 9780134818955 full chapters

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ISBN-10 :  0134818954

ISBN-13 :  9780134818955

Author: William S Klug, Michael Cummings, Charlotte A. Spencer, Michael A Palladino, Darrell Killian 

For all introductory genetics courses   Teach students core genetics concepts and applications Concepts of Genetics emphasizes the fundamental ideas of genetics, while exploring modern techniques and applications of genetic analysis. This best-selling text continues to provide understandable explanations of complex, analytical topics and recognizes the importance of teaching students how to become effective problem solvers.   The 12th Edition has been extensively updated to provide comprehensive coverage of important, emerging topics such as CRISPR-Cas and the study of posttranscriptional gene regulation in eukaryotes. An expanded emphasis on ethical considerations that genetics is bringing into everyday life is addressed in Genetics, Ethics, and Society and Case Study features. The accompanying Mastering™ Genetics online platform is updated with new tutorials and Dynamic Study Modules.   Also available with Mastering Genetics Mastering™ is the teaching and learning platform that empowers you to reach every student. 

Concepts of Genetics 12th Table of contents:

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

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