Principles of Genetics [6 ed.] 9780470903599, 0470903597, 9781118092422, 1118092422, 9781118129210, 1118129210

Table of contents :
Principles of Genetics
Title Page
Copyright
About the Authors
Preface
Goals
Content and Organization of the Sixth Edition
Pedagogy of the Sixth Edition
Online Resources
Acknowledgments
Contents
CHAPTER 1 The Science of Genetics
The Personal Genome
An Invitation
Three Great Milestones in Genetics
MENDEL: GENES AND THE RULES OF INHERITANCE
WATSON AND CRICK: THE STRUCTURE OF DNA
THE HUMAN GENOME PROJECT: SEQUENCING DNA AND CATALOGUING GENES
DNA as the Genetic Material
DNA REPLICATION: PROPAGATING GENETIC INFORMATION
GENE EXPRESSION: USING GENETIC INFORMATION
MUTATION: CHANGING GENETIC INFORMATION
Genetics and Evolution
Levels of Genetic Analysis
CLASSICAL GENETICS
MOLECULAR GENETICS
POPULATION GENETICS
Genetics in the World: Applications of Genetics to Human Endeavors
GENETICS IN AGRICULTURE
GENETICS IN MEDICINE
GENETICS IN SOCIETY
CHAPTER 2 Cellular Reproduction
Dolly
Cells and Chromosomes
THE CELLULAR ENVIRONMENT
PROKARYOTIC AND EUKARYOTIC CELLS
CHROMOSOMES: WHERE GENES ARE LOCATED
CELL DIVISION
Mitosis
Meiosis
SOLVE IT How Much DNA in Human Meiotic Cells
MEIOSIS I
MEIOSIS II AND THE OUTCOMES OF MEIOSIS
SOLVE IT How Many Chromosome Combinations in Sperm
Life Cycles of Some Model Genetic Organisms
SACCHAROMYCES CEREVISIAE, BAKER’S YEAST
ARABIDOPSIS THALIANA, A FAST-GROWING PLANT
MUS MUSCULUS, THE MOUSE
PROBLEM-SOLVING SKILLS Counting Chromosomes and Chromatids
CHAPTER 3 Mendelism: The Basic Principles of Inheritance
The Birth of Genetics: A Scientific Revolution
Mendel’s Study of Heredity
MENDEL’S EXPERIMENTAL ORGANISM, THE GARDEN PEA
MONOHYBRID CROSSES: THE PRINCIPLES OF DOMINANCE AND SEGREGATION
DIHYBRID CROSSES: THE PRINCIPLE OF INDEPENDENT ASSORTMENT
Applications of Mendel’s Principles
THE PUNNETT SQUARE METHOD
THE FORKED-LINE METHOD
THE PROBABILITY METHOD
SOLVE IT Using Probabilities in a Genetic Problem
Testing Genetic Hypotheses
THE CHI-SQUARE TEST
SOLVE IT Using the Chi-Square Test
Mendelian Principles in Human Genetics
PEDIGREES
MENDELIAN SEGREGATION IN HUMAN FAMILIES
GENETIC COUNSELING
PROBLEM-SOLVING SKILLS Making Predictions from Pedigrees
CHAPTER 4 Extensions of Mendelism
Genetics Grows Beyond Mendel’s Monastery Garden
Allelic Variation and Gene Function
INCOMPLETE DOMINANCE AND CODOMINANCE
MULTIPLE ALLELES
ALLELIC SERIES
TESTING GENE MUTATIONS FOR ALLELISM
SOLVE IT The Test for Allelism
VARIATION AMONG THE EFFECTS OF MUTATIONS
GENES FUNCTION TO PRODUCE POLYPEPTIDES
FOCUS ON Genetic Symbols
WHY ARE SOME MUTATIONS DOMINANT AND OTHERS RECESSIVE?
Gene Action: From Genotype to Phenotype
INFLUENCE OF THE ENVIRONMENT
ENVIRONMENTAL EFFECTS ON THE EXPRESSION OF HUMAN GENES
PENETRANCE AND EXPRESSIVITY
GENE INTERACTIONS
EPISTASIS
PLEIOTROPY
PROBLEM-SOLVING SKILLS Going from Pathways to Phenotypic Ratios
Inbreeding: Another Look at Pedigrees
THE EFFECTS OF INBREEDING
GENETIC ANALYSIS OF INBREEDING
SOLVE IT Compound Inbreeding
MEASURING GENETIC RELATIONSHIPS
CHAPTER 5 The Chromosomal Basis of Mendelism
Sex, Chromosomes, and Genes
Chromosomes
CHROMOSOME NUMBER
SEX CHROMOSOMES
The Chromosome Theory of Heredity
EXPERIMENTAL EVIDENCE LINKING THE INHERITANCE OF GENES TO CHROMOSOMES
NONDISJUNCTION AS PROOF OF THE CHROMOSOME THEORY
THE CHROMOSOMAL BASIS OF MENDEL’S PRINCIPLES OF SEGREGATION AND INDEPENDENT ASSORTMENT
SOLVE IT Sex Chromosome Nondisjunction
PROBLEM-SOLVING SKILLS Tracking X-Linked and Autosomal Inheritance
Sex-Linked Genes in Humans
HEMOPHILIA, AN X-LINKED BLOOD-CLOTTING DISORDER
COLOR BLINDNESS, AN X-LINKED VISION DISORDER
GENES ON THE HUMAN Y CHROMOSOME
SOLVE IT Calculating the Risk for Hemophilia
GENES ON BOTH THE X AND Y CHROMOSOMES
Sex Chromosomes and Sex Determination
SEX DETERMINATION IN HUMANS
SEX DETERMINATION IN DROSOPHILA
SEX DETERMINATION IN OTHER ANIMALS
Dosage Compensation of X-Linked Genes
HYPERACTIVATION OF X-LINKED GENES IN MALE DROSOPHILA
INACTIVATION OF X-LINKED GENES IN FEMALE MAMMALS
CHAPTER 6 Variation in Chromosome Number and Structure
Chromosomes, Agriculture, and Civilization
Cytological Techniques
ANALYSIS OF MITOTIC CHROMOSOMES
THE HUMAN KARYOTYPE
CYTOGENETIC VARIATION: AN OVERVIEW
Polyploidy
STERILE POLYPLOIDS
FERTILE POLYPLOIDS
SOLVE IT Chromosome Pairing in Polyploids
TISSUE-SPECIFIC POLYPLOIDY AND POLYTENY
Aneuploidy
TRISOMY IN HUMANS
MONOSOMY
FOCUS ON Amniocentesis and Chorionic Biopsy
PROBLEM-SOLVING SKILLS Tracing Sex Chromosome Nondisjunction
DELETIONS AND DUPLICATIONS OF CHROMOSOME SEGMENTS
Rearrangements of Chromosome Structure
INVERSIONS
TRANSLOCATIONS
COMPOUND CHROMOSOMES AND ROBERTSONIAN TRANSLOCATIONS
SOLVE IT Pollen Abortion in Translocation Heterozygotes
CHAPTER 7 Linkage, Crossing Over, and Chromosome Mapping in Eukaryotes
The World’s First Chromosome Map
Linkage, Recombination, and Crossing Over
EARLY EVIDENCE FOR LINKAGE AND RECOMBINATION
CROSSING OVER AS THE PHYSICAL BASIS OF RECOMBINATION
EVIDENCE THAT CROSSING OVER CAUSES RECOMBINATION
CHIASMATA AND THE TIME OF CROSSING OVER
Chromosome Mapping
CROSSING OVER AS A MEASURE OF GENETIC DISTANCE
RECOMBINATION MAPPING WITH A TWO-POINT TESTCROSS
RECOMBINATION MAPPING WITH A THREE-POINT TESTCROSS
SOLVE IT Mapping Two Genes with Testcross Data
PROBLEM-SOLVING SKILLS Using a Genetic Map to Predict the Outcome of a Cross
RECOMBINATION FREQUENCY AND GENETIC MAP DISTANCE
Cytogenetic Mapping
LOCALIZING GENES USING DELETIONS AND DUPLICATIONS
GENETIC DISTANCE AND PHYSICAL DISTANCE
SOLVE IT Cytological Mapping of a Drosophila Gene
Linkage Analysis in Humans
Recombination and Evolution
EVOLUTIONARY SIGNIFICANCE OF RECOMBINATION
SUPPRESSION OF RECOMBINATION BY INVERSIONS
GENETIC CONTROL OF RECOMBINATION
CHAPTER 8 The Genetics of Bacteria and Their Viruses
Multi-Drug-Resistant Bacteria: A Ticking Timebomb?
Viruses and Bacteria in Genetics
The Genetics of Viruses
BACTERIOPHAGE T4
BACTERIOPHAGE LAMBDA
The Genetics of Bacteria
MUTANT GENES IN BACTERIA
UNIDIRECTIONAL GENE TRANSFER IN BACTERIA
Mechanisms of Genetic Exchange in Bacteria
TRANSFORMATION
CONJUGATION
PLASMIDS AND EPISOMES
PROBLEM-SOLVING SKILLS Mapping Genes Using Conjugation Data
F’ FACTORS AND SEXDUCTION
TRANSDUCTION
SOLVE IT How Can You Map Closely Linked Genes Using Partial Diploids
The Evolutionary Significance of Genetic Exchange in Bacteria
SOLVE IT How Do Bacterial Genomes Evolve?
ON THE CUTTING EDGE Antibiotic-Resistant Bacteria
CHAPTER 9 DNA and the Molecular Structure of Chromosomes
Discovery of Nuclein
Functions of the Genetic Material
Proof That Genetic Information Is Stored in DNA
PROOF THAT DNA MEDIATES TRANSFORMATION
PROOF THAT DNA CARRIES THE GENETIC INFORMATION IN BACTERIOPHAGE T2
PROOF THAT RNA STORES THE GENETIC INFORMATION IN SOME VIRUSES
The Structures of DNA and RNA
NATURE OF THE CHEMICAL SUBUNITS IN DNA AND RNA
DNA STRUCTURE: THE DOUBLE HELIX
PROBLEM-SOLVING SKILLS Calculating Base Content in DNA
DNA STRUCTURE: ALTERNATE FORMS OF THE DOUBLE HELIX
SOLVE IT What Are Some Important Features of Double-Stranded DNA?
DNA STRUCTURE: NEGATIVE SUPERCOILS IN VIVO
Chromosome Structure in Prokaryotes and Viruses
Chromosome Structure in Eukaryotes
CHEMICAL COMPOSITION OF EUKARYOTIC CHROMOSOMES
ONE LARGE DNA MOLECULE PER CHROMOSOME
THREE LEVELS OF DNA PACKAGING IN EUKARYOTIC CHROMOSOMES
SOLVE IT How Many Nucleosomes in One Human X Chromosome
CENTROMERES AND TELOMERES
REPEATED DNA SEQUENCES
ON THE CUTTING EDGE The 1000 Genomes Project
CHAPTER 10 Replication of DNA and Chromosomes
Monozygotic Twins: Are They Identical?
Basic Features of DNA Replication In Vivo
SEMICONSERVATIVE REPLICATION
SOLVE IT Understanding the Semiconservative Replication of DNA
UNIQUE ORIGINS OF REPLICATION
PROBLEM-SOLVING SKILLS Predicting Patterns of 3H Labeling in Chromosomes
VISUALIZATION OF REPLICATION FORKS BY AUTORADIOGRAPHY
BIDIRECTIONAL REPLICATION
DNA Replication in Prokaryotes
FOCUS ON DNA Synthesis In Vitro
CONTINUOUS SYNTHESIS OF ONE STRAND; DISCONTINUOUS SYNTHESIS OF THE OTHER STRAND
COVALENT CLOSURE OF NICKS IN DNA BY DNA LIGASE
INITIATION OF DNA REPLICATION
INITIATION OF DNA CHAINS WITH RNA PRIMERS
UNWINDING DNA WITH HELICASES, DNA-BINDING PROTEINS, AND TOPOISOMERASES
MULTIPLE DNA POLYMERASES AND PROOFREADING
THE PRIMOSOME AND THE REPLISOME
ROLLING-CIRCLE REPLICATION
Unique Aspects of Eukaryotic Chromosome Replication
THE CELL CYCLE
MULTIPLE REPLICONS PER CHROMOSOME
SOLVE IT Understanding Replication of the Human X Chromosome
TWO OR MORE DNA POLYMERASES AT A SINGLE REPLICATION FORK
DUPLICATION OF NUCLEOSOMES AT REPLICATION FORKS
TELOMERASE: REPLICATION OF CHROMOSOME TERMINI
TELOMERE LENGTH AND AGING IN HUMANS
CHAPTER 11 Transcription and RNA Processing
Storage and Transmission of Information with Simple Codes
Transfer of Genetic Information: The Central Dogma
TRANSCRIPTION AND TRANSLATION
FIVE TYPES OF RNA MOLECULES
The Process of Gene Expression
AN mRNA INTERMEDIARY
GENERAL FEATURES OF RNA SYNTHESIS
PROBLEM-SOLVING SKILLS Distinguishing RNAs Transcribed from Viral and Host DNAs
Transcription in Prokaryotes
RNA POLYMERASES: COMPLEX ENZYMES
INITIATION OF RNA CHAINS
ELONGATION OF RNA CHAINS
TERMINATION OF RNA CHAINS
CONCURRENT TRANSCRIPTION, TRANSLATION, AND mRNA DEGRADATION
Transcription and RNA Processing in Eukaryotes
FIVE RNA POLYMERASES/FIVE SETS OF GENES
ON THE CUTTING EDGE Chromatin Remodeling and Gene Expression
INITIATION OF RNA CHAINS
SOLVE IT Initiation of Transcription by RNA Polymerase II in Eukaryotes
RNA CHAIN ELONGATION AND THE ADDITION OF 5’ METHYL GUANOSINE CAPS
TERMINATION BY CHAIN CLEAVAGE AND THE ADDITION OF 3’ POLY(A) TAILS
SOLVE IT Formation of the 3’-Terminus of an RNA Polymerase II Transcript
RNA EDITING: ALTERING THE INFORMATION CONTENT OF mRNA MOLECULES
Interrupted Genes in Eukaryotes: Exons and Introns
SOME VERY LARGE EUKARYOTIC GENES
INTRONS: BIOLOGICAL SIGNIFICANCE?
Removal of Intron Sequences by RNA Splicing
tRNA PRECURSOR SPLICING: UNIQUE NUCLEASE AND LIGASE ACTIVITIES
AUTOCATALYTIC SPLICING
PRE-mRNA SPLICING: snRNAs, snRNPs, AND THE SPLICEOSOME
CHAPTER 12 Translation and the Genetic Code
Sickle-Cell Anemia: Devastating Effects of a Single Base-Pair Change
Protein Structure
POLYPEPTIDES: TWENTY DIFFERENT AMINO ACID SUBUNITS
PROTEINS: COMPLEX THREE-DIMENSIONAL STRUCTURES
One Gene—One Colinear Polypeptide
BEADLE AND TATUM: ONE GENE—ONE ENZYME
COLINEARITY BEWEEN THE CODING SEQUENCE OF A GENE AND ITS POLYPEPTIDE PRODUCT
Protein Synthesis: Translation
OVERVIEW OF PROTEIN SYNTHESIS
COMPONENTS REQUIRED FOR PROTEIN SYNTHESIS: RIBOSOMES
COMPONENTS REQUIRED FOR PROTEIN SYNTHESIS: TRANSFER RNAs
TRANSLATION: THE SYNTHESIS OF POLYPEPTIDES USING mRNA TEMPLATES
SOLVE IT Control of Translation in Eukaryotes
The Genetic Code
PROPERTIES OF THE GENETIC CODE: AN OVERVIEW
THREE NUCLEOTIDES PER CODON
DECIPHERING THE CODE
INITIATION AND TERMINATION CODONS
A DEGENERATE AND ORDERED CODE
PROBLEM-SOLVING SKILLS Predicting Amino Acid Substitutions Induced by Mutagens
A NEARLY UNIVERSAL CODE
Codon-tRNA Interactions
RECOGNITION OF CODONS BY tRNAs: THE WOBBLE HYPOTHESIS
SUPPRESSOR MUTATIONS THAT PRODUCE tRNAs WITH ALTERED CODON RECOGNITION
SOLVE IT Effects of Base-Pair Substitutions in the Coding Region of the HBB Gene
ON THE CUTTING EDGE Selenocysteine, the 21st Amino Acid
CHAPTER 13 Mutation, DNA Repair, and Recombination
Xeroderma Pigmentosum: Defective Repair of Damaged DNA in Humans
Mutation: Source of the Genetic Variability Required for Evolution
The Molecular Basis of Mutation
SOLVE IT Nucleotide-Pair Substitutions in the Human HBB Gene
INDUCED MUTATIONS
MUTATIONS INDUCED BY CHEMICALS
MUTATIONS INDUCED BY RADIATION
PROBLEM-SOLVING SKILLS Predicting Amino Acid Changes Induced by Chemical Mutagens
MUTATIONS INDUCED BY TRANSPOSABLE GENETIC ELEMENTS
EXPANDING TRINUCLEOTIDE REPEATS AND INHERITED HUMAN DISEASES
Mutation: Basic Features of the Process
MUTATION: SOMATIC OR GERMINAL
MUTATION: SPONTANEOUS OR INDUCED
MUTATION: USUALLY A RANDOM, NONADAPTIVE PROCESS
MUTATION: A REVERSIBLE PROCESS
Mutation: Phenotypic Effects
MUTATIONS WITH PHENOTYPIC EFECTS: USUALLY DELETERIOUS AND RECESSIVE
EFFECTS OF MUTATIONS IN HUMAN GLOBIN GENES
MUTATION IN HUMANS: BLOCKS IN METABOLIC PATHWAYS
ON THE CUTTING EDGE Screening Eight-cell Pre-embryos for Tay-Sachs Muitations
CONDITIONAL LETHAL MUTATIONS: POWERFUL TOOLS FOR GENETIC STUDIES
Assigning Mutations to Genes by the Complementation Test
SOLVE IT How Can You Assign Mutations to Genes?
Screening Chemicals for Mutagenicity: The Ames Test
DNA Repair Mechanisms
LIGHT-DEPENDENT REPAIR
EXCISION REPAIR
OTHER DNA REPAIR MECHANISMS
Inherited Human Diseases with Defects in DNA Repair
DNA Recombination Mechanisms
RECOMBINATION: CLEAVAGE AND REJOINING OF DNA MOLECULES
GENE CONVERSION: DNA REPAIR SYNTHESIS ASSOCIATED WITH RECOMBINATION
CHAPTER 14 The Techniques of Molecular Genetics
Treatment of Pituitary Dwarfism with Human Growth Hormone
Basic Techniques Used to Identify, Amplify, and Clone Genes
SOLVE IT How Many NotI Restriction Fragments in Chimpanzee DNA?
THE DISCOVERY OF RESTRICTION ENDONUCLEASES
THE PRODUCTION OF RECOMBINANT DNA MOLECULES IN VITRO
AMPLIFICATION OF RECOMBINANT DNA MOLECULES IN CLONING VECTORS
CLONING LARGE GENES AND SEGMENTS OF GENOMES IN BACs, PACs, AND YACs
AMPLIFICATION OF DNA SEQUENCES BY THE POLYMERASE CHAIN REACTION (PCR)
Construction and Screening of DNA Libraries
CONSTRUCTION OF GENOMIC LIBRARIES
CONSTRUCTION OF cDNA LIBRARIES
SCREENING DNA LIBRARIES FOR GENES OF INTEREST
SOLVE IT How Can You Clone a Specific NotI Restriction Fragment from the Orangutan Genome?
The Molecular Analysis of DNA, RNA, and Protein
ANALYSIS OF DNAs BY SOUTHERN BLOT HYBRIDIZATIONS
ANALYSIS OF RNAs BY NORTHERN BLOT HYBRIDIZATIONS
FOCUS ON Detection of a Mutant Gene Causing Cystic Fibrosis
ANALYSIS OF RNAs BY REVERSE TRANSRIPTASE-PCR (RT-PCR)
ANALYSIS OF PROTEINS BY WESTERN BLOT TECHNIQUES
The Molecular Analysis of Genes and Chromosomes
PHYSICAL MAPS OF DNA MOLECULES BASED ON RESTRICTION ENZYME CLEAVAGE SITES
NUCLEOTIDE SEQUENCES OF GENES AND CHROMOSOMES
PROBLEM-SOLVING SKILLS Determining the Nucleotide Sequences of Genetic Elements
CHAPTER 15 Genomics
The Neanderthal Genome: What It Reveals about Our Ancestors
FOCUS ON GenBank
Genomics: An Overview
Correlated Genetic, Cytological, and Physical Maps of Chromosomes
RESTRICTION FRAGMENT-LENGTH POLYMORPHISM (RFLP) AND SHORT TANDEM REPEAT (STR) MAPS
CYTOGENETIC MAPS
PHYSICAL MAPS AND CLONE BANKS
Map Position-Based Cloning of Genes
CHROMOSOME WALKS AND JUMPS
The Human Genome Project
MAPPING THE HUMAN GENOME
SEQUENCING THE HUMAN GENOME
THE HUMAN HAPMAP PROJECT
RNA and Protein Assays of Genome Function
EXPRESSED SEQUENCES
MICROARRAYS AND GENE CHIPS
THE GREEN FLUORESCENT PROTEIN AS A REPORTER OF PROTEIN SYNTHESIS
Comparative Genomics
BIOINFORMATICS
PROBLEM-SOLVING SKILLS Using Bioinformatics to Investigate DNA Sequences
PROKARYOTIC GENOMES
A LIVING BACTERIUM WITH A CHEMICALLY SYNTHESIZED GENOME
THE GENOMES OF CHLOROPLASTS AND MITOCHONDRIA
SOLVE IT What Do We Know about the Mitochondrial Genome of the Extinct Woolly Mammoth?
EUKARYOTIC GENOMES
SOLVE IT What Can You Learn about DNA Sequences using Bioinformatics?
GENOME EVOLUTION IN THE CEREAL GRASSES
GENOME EVOLUTION IN MAMMALS
CHAPTER 16 Applications of Molecular Genetics
Gene Therapy Improves Sight in Child with Congenital Blindness
Use of Recombinant DNA Technology to Identify Human Genes and Diagnose Human Diseases
HUNTINGTON’S DISEASE
FOCUS ON Fragile X Syndrome and Expanded Trinucleotide Repeats
PROBLEM-SOLVING SKILLS Testing for Mutant Alleles that Cause Fragile X Mental Retardation
CYSTIC FIBROSIS
Molecular Diagnosis of Human Diseases
Human Gene Therapy
DNA Profiling
PATERNITY TESTS
SOLVE IT How Can DNA Profiles Be Used to Establish Identity?
FORENSIC APPLICATIONS
Production of Eukaryotic Proteins in Bacteria
HUMAN GROWTH HORMONE
PROTEINS WITH INDUSTRIAL APPLICATIONS
Transgenic Plants and Animals
TRANSGENIC ANIMALS: MICROINJECTION OF DNA INTO FERTILIZED EGGS AND TRANSFECTION OF EMBRYONIC STEM CELLS
TRANSGENIC PLANTS: THE TI PLASMID OF AGROBACTERIUM TUMEFACIENS
Reverse Genetics: Dissecting Biological Processes by Inhibiting Gene Expression
KNOCKOUT MUTATIONS IN THE MOUSE
T-DNA AND TRANSPOSON INSERTIONS
RNA INTERFERENCE
SOLVE IT How Might RNA Interference Be Used to Treat Burkitt’s Lymphoma?
CHAPTER 17 Transposable Genetic Elements
Maize: A Staple Crop with a Cultural Heritage
Transposable Elements: An Overview
Transposable Elements in Bacteria
IS ELEMENTS
SOLVE IT Accumulating Drug-Resistance Genes
COMPOSITE TRANSPOSONS
THE Tn3 ELEMENT
Cut-and-Paste Transposons in Eukaryotes
Ac AND Ds ELEMENTS IN MAIZE
P ELEMENTS AND HYBRID DYSGENESIS IN DROSOPHILA
PROBLEM-SOLVING SKILLS Analyzing Transposon Activity in Maize
ON THE CUTTING EDGE Small RNAs Repress P Element Activity
Retroviruses and Retrotransposons
RETROVIRUSES
RETROVIRUSLIKE ELEMENTS
RETROPOSONS
Transposable Elements in Humans
The Genetic and Evolutionary Significance of Transposable Elements
TRANSPOSONS AS MUTAGENS
GENETIC TRANSFORMATION WITH TRANSPOSONS
SOLVE IT Transposon-Mediated Chromosome Rearrangements
TRANSPOSONS AND GENOME ORGANIZATION
CHAPTER 18 Regulation of Gene Expression in Prokaryotes
D’Hérelle’s Dream of Treating Dysentery in Humans by Phage Therapy
Constitutive, Inducible, and Repressible Gene Expression
Positive and Negative Control of Gene Expression
Operons: Coordinately Regulated Units of Gene Expression
The Lactose Operon in E. coli: Induction and Catabolite Repression
INDUCTION
SOLVE IT Constitutive Mutations in the E. coli lac Operon
CATABOLITE REPRESSION
PROBLEM SOLVING SKILLS Testing Your Understanding of the lac Operon
PROTEIN-DNA INTERACTIONS THAT CONTROL TRANSCRIPTION OF THE LAC OPERON
The Tryptophan Operon in E. coli: Repression and Attenuation
REPRESSION
ATTENUATION
SOLVE IT Regulation of the Histidine Operon of Salmonella typhimurium
ON THE CUTTING EDGE The Lysine Riboswitch
Translational Control of Gene Expression
Posttranslational Regulatory Mechanisms
CHAPTER 19 Regulation of Gene Expression in Eukaryotes
African Trypanosomes: A Wardrobe of Molecular Disguises
Ways of Regulating Eukaryotic Gene Expression: An Overview
DIMENSIONS OF EUKARYOTIC GENE REGULATION
CONTROLLED TRANSCRIPTION OF DNA
ALTERNATE SPLICING OF RNA
SOLVE IT Counting mRNAs
CYTOPLASMIC CONTROL OF MESSENGER RNA STABILITY
Induction of Transcriptional Activity by Environmental and Biological Factors
TEMPERATURE: THE HEAT-SHOCK GENES
SIGNAL MOLECULES: GENES THAT RESPOND TO HORMONES
Molecular Control of Transcription in Eukaryotes
DNA SEQUENCES INVOLVED IN THE CONTROL OF TRANSCRIPTION
PROTEINS INVOLVED IN THE CONTROL OF TRANSCRIPTION: TRANSCRIPTION FACTORS
PROBLEM-SOLVING SKILLS Defining the Sequences Required for a Gene’s Expression
Posttranscriptional Regulation of Gene Expression by RNA Interference
RNAi PATHWAYS
SOURCES OF SHORT INTERFERING RNAs AND MicroRNAs
Gene Expression and Chromatin Organization
SOLVE IT Using RNAi in Cell Research
EUCHROMATIN AND HETEROCHROMATIN
MOLECULAR ORGANIZATION OF TRANSCRIPTIONALLY ACTIVE DNA
CHROMATIN REMODELING
DNA METHYLATION
IMPRINTING
ON THE CUTTING EDGE The Epigenetics of Twins
Activation and Inactivation of Whole Chromosomes
INACTIVATION OF X CHROMOSOMES IN MAMMALS
HYPERACTIVATION OF X CHROMOSOMES IN DROSOPHILA
HYPOACTIVATION OF X CHROMOSOMES IN CAENORHABDITIS
CHAPTER 20 The Genetic Control of Animal Development
Stem-Cell Therapy
A Genetic Perspective on Development
Maternal Gene Activity in Development
MATERNAL-EFFECT GENES
SOLVE IT A Maternal-Effect Mutation in the cinnamon Gene
DETERMINATION OF THE DORSAL–VENTRAL AND ANTERIOR–POSTERIOR AXES
Zygotic Gene Activity in Development
BODY SEGMENTATION
ORGAN FORMATION
SPECIFICATION OF CELL TYPES
SOLVE IT Cave Blindness
PROBLEM-SOLVING SKILLS The Effects of Mutations during Eye Development
Genetic Analysis of Development in Vertebrates
VERTEBRATE HOMOLOGUES OF INVERTEBRATE GENES
THE MOUSE: RANDOM INSERTION MUTATIONS AND GENE-SPECIFIC KNOCKOUT MUTATIONS
STUDIES WITH MAMMALIAN STEM CELLS
REPRODUCTIVE CLONING
GENETIC CHANGES IN THE DIFFERENTIATION OF VERTEBRATE IMMUNE CELLS
CHAPTER 21 The Genetic Basis of Cancer
A Molecular Family Connection
Cancer: A Genetic Disease
THE MANY FORMS OF CANCER
CANCER AND THE CELL CYCLE
CANCER AND PROGRAMMED CELL DEATH
A GENETIC BASIS FOR CANCER
Oncogenes
TUMOR-INDUCING RETROVIRUSES AND VIRAL ONCOGENES
SOLVE IT The v-erbB and v-fms Viral Oncogenes
CELLULAR HOMOLOGUES OF VIRAL ONCOGENES: THE PROTO-ONCOGENES
MUTANT CELLULAR ONCOGENES AND CANCER
CHROMOSOME REARRANGEMENTS AND CANCER
Tumor Suppressor Genes
INHERITED CANCERS AND KNUDSON’S TWO-HIT HYPOTHESIS
PROBLEM-SOLVING SKILLS Estimating Mutation Rates in Retinoblastoma
CELLULAR ROLES OF TUMOR SUPPRESSOR PROTEINS
pRB
p53
SOLVE IT Downstream of p53
pAPC
phMSH2
pBRCA1 and pBRCA2
FOCUS ON Cancer and Genetic Counseling
Genetic Pathways to Cancer
CHAPTER 22 Inheritance of Complex Traits
Cardiovascular Disease: A Combination of Genetic and Environmental Factors
Complex Traits
QUANTIFYING COMPLEX TRAITS
GENETIC AND ENVIRONMENTAL FACTORS INFLUENCE QUANTITATIVE TRAITS
MULTIPLE GENES INFLUENCE QUANTITATIVE TRAITS
THRESHOLD TRAITS
Statistics of Quantitative Genetics
FREQUENCY DISTRIBUTIONS
THE MEAN AND THE MODAL CLASS
THE VARIANCE AND THE STANDARD DEVIATION
Analysis of Quantitative Traits
THE MULTIPLE FACTOR HYPOTHESIS
PARTITIONING THE PHENOTYPIC VARIANCE
SOLVE IT Estimating Genetic and Environmental Variance Components
BROAD-SENSE HERITABILITY
NARROW-SENSE HERITABILITY
PREDICTING PHENOTYPES
SOLVE IT Using the Narrow-Sense Heritability
ARTIFICIAL SELECTION
FOCUS ON Artificial Selection
QUANTITATIVE TRAIT LOCI
PROBLEM-SOLVING SKILLS Detecting Dominance at a QTL
Correlations Between Relatives
CORRELATING QUANTITATIVE PHENOTYPES BETWEEN RELATIVES
INTERPRETING CORRELATIONS BETWEEN RELATIVES
Quantitative Genetics of Human Behavioral Traits
INTELLIGENCE
PERSONALITY
CHAPTER 23 Population Genetics
A Remote Colony
The Theory of Allele Frequencies
ESTIMATING ALLELE FREQUENCIES
RELATING GENOTYPE FREQUENCIES TO ALLELE FREQUENCIES: THE HARDY–WEINBERG PRINCIPLE
APPLICATIONS OF THE HARDY–WEINBERG PRINCIPLE
EXCEPTIONS TO THE HARDY–WEINBERG PRINCIPLE
SOLVE IT The Effects of Inbreeding on Hardy-Weinberg Frequencies
USING ALLELE FREQUENCIES IN GENETIC COUNSELING
Natural Selection
THE CONCEPT OF FITNESS
NATURAL SELECTION AT THE LEVEL OF THE GENE
SOLVE IT Selection Against a Harmful Recessive Allele
Random Genetic Drift
RANDOM CHANGES IN ALLELE FREQUENCIES
THE EFFECTS OF POPULATION SIZE
PROBLEM-SOLVING SKILLS Applying Genetic Drift to Pitcairn Island
Populations in Genetic Equilibrium
BALANCING SELECTION
MUTATION-SELECTION BALANCE
MUTATION-DRIFT BALANCE
CHAPTER 24 Evolutionary Genetics
D’ou venons nous? Que sommes nous? Ou allons nous?
The Emergence of Evolutionary Theory
DARWIN’S THEORY OF EVOLUTION
EVOLUTIONARY GENETICS
Genetic Variation in Natural Populations
VARIATION IN PHENOTYPES
VARIATION IN CHROMOSOME STRUCTURE
VARIATION IN PROTEIN STRUCTURE
VARIATION IN NUCLEOTIDE SEQUENCES
Molecular Evolution
MOLECULES AS “DOCUMENTS OF EVOLUTIONARY HISTORY”
MOLECULAR PHYLOGENIES
RATES OF MOLECULAR EVOLUTION
PROBLEM-SOLVING SKILLS Using Mitochondrial DNA to Establish a Phylogeny
THE MOLECULAR CLOCK
SOLVE IT Calculating Divergence Times
VARIATION IN THE EVOLUTION OF PROTEIN SEQUENCES
VARIATION IN THE EVOLUTION OF DNA SEQUENCES
THE NEUTRAL THEORY OF MOLECULAR EVOLUTION
SOLVE IT Evolution by Mutation and Genetic Drift
MOLECULAR EVOLUTION AND PHENOTYPIC EVOLUTION
Speciation
WHAT IS A SPECIES?
MODES OF SPECIATION
Human Evolution
HUMANS AND THE GREAT APES
HUMAN EVOLUTION IN THE FOSSIL RECORD
DNA SEQUENCE VARIATION AND HUMAN ORIGINS
Appendices
Appendix A: The Rules of Probability
Appendix B: Binomial Probabilities
Appendix C: In Situ Hybridization
Appendix D: Evidence for an Unstable Messenger RNA
Appendix E: Evolutionary Rates
Answers to Odd-Numbered Questions and Problems
Glossary
Photo Credits
Illustration Credits
Index