Principles of Genetics
7th Edition
Published on 26. October 2015
Loose-leaf edition
648 pages
978-1-119-14228-7 (ISBN)
Description
Principles of Genetics is one of the most popular texts in use for the introductory course. It opens a window on the rapidly advancing science of genetics by showing exactly how genetics is done. Throughout, the authors incorporate a human emphasis and highlight the role of geneticists to keep students interested and motivated. The seventh edition has been completely updated to reflect the latest developments in the field of genetics. Principles of Genetics continues to educate today's students for tomorrows science by focusing on features that aid in content comprehension and application. This text is an unbound, three hole punched version.
More details
Edition
7th edition
Language
English
Place of publication
New York
United States
Target group
College/higher education
Product notice
Loose leaf - sheets only
Dimensions
Height: 273 mm
Width: 231 mm
Thickness: 19 mm
Weight
1274 gr
ISBN-13
978-1-119-14228-7 (9781119142287)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
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Previous edition
D. Peter Snustad | Michael J. Simmons
Principles of Genetics, Binder Ready Version
Loose-leaf edition
09/2011
6th Edition
Wiley
€202.04
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Persons
D. Peter Snustad and Michael J. Simmons are the authors of Principles of Genetics, Binder Ready Version, 7th Edition, published by Wiley.
Content
Chapter 1 : The Science of Genetics 1
The Personal Genome 1
an Invitation 2
Three Great Milestones in Genetics 2
Mendel: Genes And The Rules Of Inheritance 2
Watson And Crick: The Structure Of DNA 3
The Human Genome Project: Sequencing DNA And Cataloging Genes 4
DNA as the Genetic Material 6
DNA Replication: Propagating Genetic Information 6
Gene Expression: Using Genetic Information 7
Mutation: Changing Genetic Information 9
Genetics and Evolution 10
Levels of Genetic analysis 11
Classical Genetics 11
Molecular Genetics 11
Population Genetics 12
Genetics in the World: applications of Genetics to human Endeavors 12
Genetics In Agriculture 12
Genetics In Medicine 14
Genetics In Society 15
Chapter 2 : Cellular Reproduction 18
Dolly 18
Cells and Chromosomes 19
The Cellular Environment 19
Prokaryotic And Eukaryotic Cells 20
Chromosomes: Where Genes Are Located 20
Cell Division 23
Mitosis 24
Meiosis 27
Meiosis: An Overview 27
Meiosis I 27
Solve It : how Much DNA in human Meiotic Cells 27
Meiosis II And The Outcomes Of Meiosis 31
Solve It : How Many Chromosome Combinations in Sperm 31
Life Cycles of Some Model Genetic Organisms 32
Saccharomyces Cerevisiae, Baker's Yeast 32
Arabidopsis Thaliana, A Flowering Plant 33
Mus Musculus, The Mouse 34
Problem-Solving Skills Counting
Chromosomes and Chromatids 36
Chapter 3 : Mendelism: The Basic Principles of Inheritance 40
The Birth of Genetics: A Scientific Revolution 40
Mendel's Study of heredity 41
Mendel's Experimental Organism, The Garden Pea 41
Monohybrid Crosses: The Principles of Dominance And Segregation 42
Dihybrid Crosses: The Principle of Independent Assortment 44
Applications of Mendel's principles 46
The Punnett Square Method 46
The Forked-Line Method 46
The Probability Method 47
Solve It : Using probabilities in a Genetic problem 48
Testing Genetic hypotheses 48
Two Examples: Data From Mendel And Devries 49
The Chi-Square Test 49
Solve It : Using the Chi-Square test 52
Mendelian principles in human Genetics 52
Pedigrees 53
Mendelian Segregation In Human Families 54
Genetic Counseling 54
Problem-Solving Skills Making Predictions From Pedigrees 56
Chapter 4 : Extensions of Mendelism 62
Genetics Grows beyond Mendel's Monastery Garden 62
Allelic Variation and Gene Function 63
Incomplete Dominance and Codominance?63
Multiple Alleles?64
Allelic Series?65
Testing Gene Mutations for Allelism?65
Solve It:The Test for Allelism 66
Variation among the Effects of Mutations?66
Genes Function to Produce Polypeptides?67
Why Are Some Mutations Dominant and Others Recessive? 68
Gene Action: From Genotype to Phenotype 69
Influence of the Environment?69
Environmental Effects on the Expression of Human Genes?70
Penetrance and Expressivity?70
Gene Interactions?71
Epistasis?71
Epistasis and Genetic Pathways 72
Pleiotropy?74
Problem-Solving Skills Going from Pathways to Phenotypic Ratios 75
Inbreeding: Another Look at Pedigrees 76
The Effects of Inbreeding?76
Genetic Analysis of Inbreeding?77
Uses Of The Inbreeding Coefficient 80
Solve It : Compound Inbreeding 80
Measuring Genetic Relationships?81
Chapter 5 : The Chromosomal Basis of Mendelism 88
Sex, Chromosomes, and Genes 88
Chromosomes 89
Chromosome Number?89
Sex Chromosomes?89
The Chromosome Theory of Heredity 91
Experimental Evidence Linking the Inheritance of Genes to Chromosomes?91
Nondisjunction as Proof of the Chromosome Theory?92
The Chromosomal Basis of Mendel's Principles of Segregation and Independent Assortment?94
Solve It : Sex Chromosome Nondisjunction 94
Problem-Solving Skills Tracking X-Linked and Autosomal Inheritance 96
Sex-Linked Genes in Humans 97
Hemophilia, an X-Linked Blood-Clotting Disorder?97
Color Blindness, an X-Linked Vision Disorder?97
Genes on the Human Y Chromosome?99
Genes on Both the X and Y Chromosomes?99
SOLVE IT Calculating the Risk for Hemophilia 99
Sex Chromosomes and Sex Determination 99
Sex Determination in Humans?100
Sex Determination in Drosophila 101
Sex Determination in Other Animals?101
Dosage Compensation of X-Linked Genes 103
Hyperactivation of X-linked Genes in Male Drosophila 103
Inactivation of X-linked Genes in Female Mammals?103
Chapter 6 : Variation in Chromosome Number and Structure 109
Chromosomes, Agriculture, and Civilization 109
Cytological Techniques 110
Analysis of Mitotic Chromosomes?110
The Human Karyotype?112
Cytogenetic Variation: An Overview?113
Polyploidy 114
Sterile Polyploids?114
Fertile Polyploids?115
Tissue-Specific Polyploidy and Polyteny?116
Solve It : Chromosome Pairing in Polyploids 116
Aneuploidy 118
Trisomy in Humans?119
Monosomy?120
Problem-Solving Skills : Tracing Sex Chromosome Nondisjunction 122
Deletions and Duplications of Chromosome Segments?122
Rearrangements of Chromosome Structure 124
Inversions?124
Translocations?125
Compound Chromosomes and Robertsonian Translocations?126
Solve It : Pollen Abortion in Translocation Heterozygotes 127
Chapter 7 : Linkage, Crossing Over, and Chromosome Mapping in Eukaryotes 133
The World's First Chromosome Map 133
Linkage, Recombination, and Crossing Over 134
Early Evidence for Linkage and Recombination?134
Crossing Over as the Physical Basis of Recombination?136
Evidence That Crossing Over Causes Recombination?137
Chiasmata and the Time of Crossing Over?138
Chromosome Mapping 139
Crossing Over as a Measure of Genetic Distance?139
Recombination Mapping with a Two-Point Testcross?140
Recombination Mapping with a Three-Point Testcross?140
Solve It : Mapping Two Genes with Testcross Data 141
Problem-Solving Skills Using a Genetic Map to Predict the Outcome of a Cross 144
Recombination Frequency and Genetic Map Distance?144
Cytogenetic Mapping 146
Localizing Genes Using Deletions and Duplications?146
Genetic Distance and Physical Distance?147
Solve It : Cytological Mapping of a Drosophila Gene 148
Linkage Analysis in Humans 148
An Example: Linkage Between Blood Groups
And The Nail-Patella Syndrome 149
Detecting Linkage With Molecular Markers 150
Recombination and Evolution 151
Evolutionary Significance of Recombination?151
Suppression of Recombination by Inversions?152
Chapter 8 : The Genetics of Bacteria and Their Viruses 161
Multi - Drug-Resistant Bacteria: A Ticking Timebomb? 161
Viruses and Bacteria in Genetics 162
The Genetics of Viruses 163
Bacteriophage T4 163
Bacteriophage Lambda?164
The Genetics of Bacteria 167
Mutant Genes in Bacteria?168
Unidirectional Gene Transfer in Bacteria?169
Mechanisms of Genetic Exchange in Bacteria 170
Transformation?171
Mechanism Of Transformation 172
Conjugation?173
Using Conjugation To Map E. Coli Genes 175
Plasmids and Episomes?177
Problem-Solving Skills Mapping Genes Using Conjugation Data 178
F Factors and Sexduction?179
Transduction?180
Solve It : How Can You Map Closely Linked Genes Using Partial Diploids? 181
Evolutionary Significance Of Genetic Exchange In Bacteria 183
Solve It : How Do Bacterial Genomes Evolve? 183
Chapter 9 : DNA and the Molecular Structure of Chromosomes 189
Discovery of Nuclein 189
Proof That Genetic Information Is Stored in DNA and RNA?190
Proof That DNA Mediates Transformation?190
Proof That DNA Carries the Genetic Information in Bacteriophage T2 191
Proof That RNA Stores the Genetic Information in Some Viruses?193
The Structures of DNA and Rna 194
Nature of the Chemical Subunits in DNA and RNA 194
DNA Structure: The Double Helix 195
Problem-Solving Skills Calculating base Content in DNA?199
DNA Structure: Alternate Forms of the Double Helix 199
Solve It : What Are Some Important Features of Double-Stranded DNA? 200
DNA Structure: Negative Supercoils In Vivo 200
Chromosome Structure in Viruses and Prokaryotes 201
Chromosome Structure in Eukaryotes 203
Chemical Composition of Eukaryotic Chromosomes?203
One Large DNA Molecule per Chromosome?204
Nucleosomes 205
Packaging Of Chromatin In Eukaryotic Chromosomes 207
Solve It : How Many Nucleosomes in One Human X Chromosome? 207
Special Features of Eukaryotic Chromosomes 208
Complexity Of DNA In Chromosomes: Unique And Repetitive Sequences 209
Centromeres 211
Telomeres 211
Chapter 10 : Replication of DNA and Chromosomes 217
Monozygotic Twins: Are They Identical? 217
Basic Features of DNA Replication In Vivo 218
Semiconservative Replication Of DNA Molecules 218
Semi conservative replication of eukaryotic chromosomes?220
Origins of Replication?221
Solve It : Semiconservative Replication of DNA?221
Problem-Solving Skills Predicting Patterns of 3 H Labeling in Chromosomes 223
Replication Forks?224
Bidirectional Replication?225
DNA Replication in Prokaryotes 228
Continuous Synthesis of One Strand; Discontinuous Synthesis of the Other Strand?228
Covalent Closure of Nicks in DNA by DNA Ligase?229
Initiation of DNA Replication?230
Initiation of DNA Chains with RNA Primers?230
Unwinding DNA with Helicases, DNA-Binding Proteins, and Topoisomerases?232
Multiple DNA Polymerases?235
Proofreading 237
The Primosome and the Replisome?238
Rolling-Circle Replication?240
Unique Aspects of Eukaryotic Chromosome Replication 241
The Cell Cycle?241
Multiple Replicons per Chromosome?241
Two or More DNA Polymerases at a Single Replication Fork?242
Solve It : Understanding Replication of the Human X Chromosome 243
Duplication of Nucleosomes at Replication Forks?243
Telomerase: Replication of Chromosome Termini?244
Telomere Length and Aging in Humans?245
Chapter 11 : Transcription and RNA Processing 252
Storage and Transmission of Information with Simple Codes 252
Transfer of Genetic Information: The Central Dogma 253
Transcription and Translation?253
Five Types of RNA Molecules?254
The Process of Gene Expression 255
An mRNA Intermediary?255
General Features of RNA Synthesis?257
Problem-Solving Skills Distinguishing RNAs Transcribed from Viral and Host DNAs 258
Transcription in Prokaryotes 259
RNA Polymerases: Complex Enzymes?259
Initiation of RNA Chains?260
Elongation of RNA Chains?260
Termination of RNA Chains?261
Concurrent Transcription, Translation, and mRNA Degradation?262
Transcription and RNA Processing in Eukaryotes 263
Five RNA Polymerases/Five Sets of Genes?263
Initiation of RNA Chains?265
Solve It : Initiation of Transcription by RNA Polymerase II in Eukaryotes 265
RNA Chain Elongation and the Addition of 5 Methyl Guanosine Caps?266
Termination by Chain Cleavage and the Addition of 3 Poly(A) Tails?267
Solve It : Formation of the 3 -Terminus of an RNA Polymerase II Transcript 268
RNA Editing: Altering the Information Content of mRNA Molecules?268
Interrupted Genes in Eukaryotes: Exons and Introns 269
Evidence For Introns 270
Some Very Large Eukaryotic Genes?271
Introns: Biological Significance? 271
Removal of Intron Sequences by RNA Splicing 272
Sequence Signals For RNA Splicing 272
tRNA Precursor Splicing: Unique Nuclease and Ligase Activities?273
Autocatalytic Splicing?273
Pre-mRNA Splicing: snRNAs, snRNPs, and the spliceosome?274
Chapter 12 : Translation and the Genetic Code 280
Sickle - Cell Anemia : Devastating Effects of a Single Amino Acid Change 280
Protein Structure 281
Polypeptides: Twenty Different Amino Acid Subunits?281
Proteins: Complex Three-Dimensional Structures?281
Genes Encode Polypeptides 284
Beadle and Tatum: One Gene-One Enzyme?284
Crick and Colleagues: Each Amino Acid In A Polypeptide Is Specified By Three Nucleotides 286
The Components of Polypeptide Synthesis 289
Overview Of Gene Expression 289
Ribosomes?290
Transfer RNAs 292
The Process of Polypeptide Synthesis 294
Polypeptide Chain Initiation?294
Polypeptide Chain Elongation?298
Polypeptide Chain Termination?300
Solve It : Control of Translation in Eukaryotes 300
The Genetic Code 302
Properties of the Genetic Code?302
Deciphering the Code?302
Initiation and Termination Codons?303
A Degenerate and Ordered Code?303
A Nearly Universal Code?305
Problem-Solving Skills Predicting Amino Acid Substitutions Induced by Mutagens 305
Codon-tRNA Interactions 306
Recognition of Codons by tRNAs: The Wobble Hypothesis?306
Suppressor Mutations That Produce tRNAs with Altered Codon Recognition?307
Solve It : Effects of Base-Pair Substitutions in the Coding Region of the HBB Gene 308
Chapter 13 : Mutation, DNA Repair, and Recombination 313
Xeroderma Pigmentosum : Defective Repair of Damaged DNA in Humans 313
Mutation 314
Somatic and Germinal Mutations 314
Spontaneous and Induced Mutations 314
Forward And Reverse Mutations 315
Usually Deleterious and Recessive 315
The Molecular Basis of Mutation 317
Single Base-Pair Changes And Frameshift Mutations 317
Solve It : Nucleotide-Pair Substitutions in the Human HBB Gene 318
Transposon Insertion Mutations 318
Mutations Caused By Expanding Trinucleotide Repeats 319
Mutagenesis 320
Muller's Demonstration That Mutations Can Be
Induced With X-Rays 320
Inducing Mutations With Radiation 321
Inducing Mutations With Chemicals 323
Screening Chemicals For Mutagenicity: The Ames Test 326
Problem-Solving Skills Predicting Amino Acid
Changes Induced by Chemical Mutagens 327
Assigning Mutations to Genes by the
Complementation Test 329
Lewis's Test For Allelism 329
Applying The Complementation Test: An Example 331
Solve It : How Can You Assign Mutations to Genes? 331
DNA Repair Mechanisms 333
Light-Dependent Repair?333
Excision Repair?333
Other DNA Repair Mechanisms?334
Inherited Human Diseases With Defects
In DNA Repair 336
DNA Recombination Mechanisms 338
Recombination: Cleavage and Rejoining of DNA Molecules?338
Gene Conversion: DNA Repair Synthesis Associated with Recombination?341
Chapter 14 : The Techniques of Molecular Genetics 350
Treatment of Pituitary Dwarfism with Human Growth Hormone 350
Basic Techniques Used to Identify, Amplify, and Clone Genes 351
DNA Cloning: An Overview 351
Restriction Endonucleases?351
Solve It : How Many NotI Restriction Fragments in Chimpanzee DNA? 354
Producing Recombinant DNA Molecules In Vitro 354
Amplification of Recombinant DNA Molecules in Cloning Vectors?354
Cloning Large Genes and Segments of Genomes in BACs, PACs, and YACs 357
Amplification of DNA Sequences by the Polymerase Chain Reaction (PCR) 358
Construction and Screening of DNA Libraries 360
Construction of Genomic Libraries?360
Construction of cDNA Libraries?361
Screening DNA Libraries for Genes of Interest?361
Solve It How Can You Clone a Specific NotI Restriction Fragment from the Orangutan Genome? 363
The Molecular Analysis of DNA, RNA, and Protein 364
Analysis of DNAs by Southern Blot Hybridizations?364
Analysis of RNAs by Northern Blot Hybridizations?365
Analysis of RNAs by Reverse Transcriptase-PCR (RT-PCR) 366
Analysis of Proteins by Western Blot Techniques?368
The Molecular Analysis of Genes and Chromosomes 368
Physical Maps of DNA Molecules Based on Restriction Enzyme Cleavage Sites?369
Nucleotide Sequences of Genes and Chromosomes?370
Problem-Solving Skills Determining the Nucleotide Sequences of Genetic Elements 373
Chapter 15 : Genomics 379
Genomes from Denisova Cave 379
Genomics: An Overview 380
The Scope Of Genomics 380
Genomics Databases 380
Problem-Solving Skills Using Bioinformatics to Investigate DNA Sequences 382
Correlated Genetic, Cytological, and Physical Maps of Chromosomes 382
Genetic, Cytological, and Physical Maps 383
High-Density Genetic Maps of Molecular Markers 384
Contig Maps And Clone Banks 385
Map-Based Cloning Of Genes 387
The Human Genome Project 387
Mapping The Human Genome 388
Sequencing The Human Genome 388
General Features Of The Human Genome 390
Repeated Sequences In The Human Genome 390
Genes In The Human Genome 391
Solve It : What Can You Learn about DNA Sequences Using Bioinformatics? 392
Single-Nucleotide Polymorphisms And The Human Hapmap Project 395
RNA and Protein Assays of Genome Functions 397
Microarrays And Gene Chips 397
The Green Fluorescent Protein As A Reporter Of Protein Presence 400
Genome Diversity and Evolution 401
Prokaryotic Genomes 401
A Living Bacterium With A Chemically Synthesized Genome 403
The Genomes Of Mitochondria And Chloroplasts 404
Eukaryotic Genomes 407
Comparative Genomics: A Way To Study Evolution 408
Paleogenomics 409
Solve It What Do We Know about the Mitochondrial Genome of the Extinct Woolly Mammoth? 411
Chapter 16 : Applications of Molecular Genetics 417
Gene Therapy Improves Sight in Child with Congenital Blindness 417
Use of Recombinant DNA Technology to Identify Human Genes and Diagnose Genetic Diseases 418
Huntington's Disease?418
Problem-Solving Skills Testing for Mutant Alleles that Cause Fragile X Mental Retardation 421
Cystic Fibrosis?421
Molecular Diagnosis of Human Diseases?424
Human Gene Therapy 426
Different Types Of Gene Therapy 426
Gene Therapy Vectors 427
Criteria For Approving Gene Therapy 427
Gene Therapy For Autosomal Immunodeficiency Disease 428
Gene Therapy For X-Linked Immunodeficiency Disease 428
Successful Gene Therapy And Future Prospects 430
DNA Profiling 431
DNA Profiling 431
Paternity Tests?435
Forensic Applications?435
Solve It : How Can DNA Profiles Be Used to Establish Identity? 435
Production of Eukaryotic Proteins in Bacteria 437
Human Growth Hormone?437
Proteins with Industrial Applications?438
Transgenic Animals and Plants 439
Transgenic Animals: Microinjection of DNA into Fertilized Eggs and Transfection of Embryonic Stem Cells?439
Transgenic Plants: The Ti Plasmid of Agrobacterium tumefaciens 440
Reverse Genetics: Dissecting Biological Processes by Inhibiting Gene Expression 442
Knockout Mutations in the Mouse?443
T-DNA and Transposon Insertions?445
RNA Interference?446
Solve It : How Might RNA Interference Be Used to Treat Burkitt's Lymphoma? 448
Genome Engineering 448
The Crispr/Cas9 System For Cleaving DNA Molecules 448
Targeted Mutagenesis With The Crispr/Cas9 System 450
Deleting, Replacing, And Editing Genes With The Crispr/ Cas9 System 452
Chapter 17 : Regulation of Gene Expression in Prokaryotes 459
D'Herelle's Dream 459
Strategies for Regulating Genes in Prokaryotes 460
Constitutive, Inducible, and Repressible Gene Expression 461
Positive and Negative Control of Gene Expression 462
Operons: Coordinately Regulated Units of Gene Expression 464
The Lactose Operon in E. coli: Induction and Catabolite Repression 466
Solve It : Constitutive Mutations in the E. coli lac Operon 468
Induction?468
Catabolite Repression?469
Problem-Solving Skills Testing Your Understanding of the lac Operon 471
Protein-DNA Interactions That Control Transcription of the lac Operon?472
The Tryptophan Operon in E. coli: Repression and Attenuation 474
Repression?474
Attenuation?475
Solve It : Regulation of the Histidine Operon of Salmonella typhimurium 477
Posttranscriptional Regulation of Gene
Expression in Prokaryotes 479
Translational Control of Gene Expression?479
Posttranslational Regulatory Mechanisms?479
Chapter 18 : Regulation of Gene Expression in Eukaryotes 484
African Trypanosomes : A Ward robe of Molecular DisguIses 484
Ways of Regulating Eukaryotic Gene Expression: An Overview 485
Dimensions of Eukaryotic Gene Regulation?485
Controlled Transcription of DNA 485
Alternate Splicing of RNA 486
Cytoplasmic Control of Messenger RNA Stability?486
Solve It : Counting mRNAs 487
Induction of Transcriptional Activity by Environmental and Biological Factors 487
Temperature: The Heat-Shock Genes?488
Signal Molecules: Genes That Respond to Hormones?488
Molecular Control of Transcription in Eukaryotes 490
DNA Sequences Involved in the Control of Transcription?490
Proteins Involved in the Control of Transcription: Transcription Factors?491
Problem-Solving Skills Defining the Sequences Required for a Gene's Expression 492
Posttranscriptional Regulation of Gene Expression by RNA Interference 494
RNAi Pathways?494
Sources of Short Interfering RNAs and MicroRNAs 496
Solve It Using RnAi in Cell Research 497
Gene Expression and Chromatin
Organization 497
Euchromatin and Heterochromatin?498
Molecular Organization of Transcriptionally Active DNA 498
Chromatin Remodeling?499
DNA Methylation?500
Imprinting?502
Activation and Inactivation of Whole Chromosomes 503
Inactivation of X Chromosomes in Mammals?504
Hyperactivation of X Chromosomes in Drosophila 505
Hypoactivation of X Chromosomes in Caenorhabditis 506
Chapter 19 : Inheritance of Complex Traits 511
Cardiovascular Disease: A Combination of Genetic and Environmental Factors 511
Complex Traits 512
Quantifying Complex Traits?512
Genetic and Environmental Factors Influence Quantitative Traits?512
Multiple Genes Influence Quantitative Traits?512
Threshold Traits?514
Statistics of Quantitative Genetics 515
Frequency Distributions?515
The Mean and the Modal Class?516
The Variance and the Standard Deviation?516
Statistical Analysis of Quantitative Traits 517
The Multiple Factor Hypothesis?518
Partitioning the Phenotypic Variance?518
Broad-Sense Heritability?519
Solve It Estimating Genetic and Environmental Variance Components 519
Narrow-Sense Heritability?520
Predicting Phenotypes?521
Solve It Using the Narrow-Sense Heritability 522
Artificial Selection?522
Molecular Analysis of Complex Traits 523
Quantitative Trait Loci?523
Genome-Wide Association Studies Of Human Diseases 526
Problem-Solving Skills Detecting Dominance at a QTL 527
Correlations between Relatives 531
Correlating Quantitative Phenotypes between Relatives?531
Interpreting Correlations between Relatives?533
Quantitative Genetics of Human
Behavioral Traits 535
Intelligence?535
Personality?536
Chapter 20 : Population Genetics 541
A Remote Colony 541
The Theory of Allele Frequencies 542
Estimating Allele Frequencies?542
Relating Genotype Frequencies to Allele Frequencies: The Hardy-Weinberg Principle?543
Applications of the Hardy-Weinberg Principle?543
Exceptions to the Hardy-Weinberg Principle?545
Solve It : The Effects of Inbreeding on Hardy- Weinberg Frequencies 546
Using Allele Frequencies in Genetic Counseling?547
Natural Selection 548
The Concept of Fitness?548
Natural Selection at the Level of the Gene?549
Solve It : Selection against a Harmful Recessive Allele 550
Random Genetic Drift 552
Random Changes in Allele Frequencies?552
The Effects of Population Size?553
Problem-Solving Skills Applying Genetic Drift to Pitcairn Island 554
Populations in Genetic Equilibrium 554
Balancing Selection?555
Mutation-Selection Balance?556
Mutation-Drift Balance?557
Answers to Odd-Numbered Questions and Problems 563
Glossary 584
Index 607
Chapter 21 (Online) : Transposable Genetic Elements WC-1
Maize: A Staple Crop with a Cultural Heritage WC-1
Transposable Elements: An Overview WC-2
Transposable Elements in Bacteria WC-3
Is Elements?WC-3
Composite Transposons?WC-5
The Tn3 Element?WC-5
Solve It: Accumulating Drug-Resistance Genes WC-5
Cut-and-Paste Transposons in Eukaryotes WC-7
Ac and Ds Elements in Maize?WC-7
P Elements and Hybrid Dysgenesis in Drosophila WC-9
Problem-Solving Skills Analyzing
Transposon Activity in Maize W C - 10
Retroviruses and Retrotransposons WC-11
Retroviruses?WC-12
Retroviruslike Elements?WC-14
Retroposons?WC-16
Transposable Elements in Humans WC-17
The Genetic and Evolutionary Significance of Transposable Elements WC-20
Transposons as Mutagens?WC-20
Genetic Transformation with Transposons?WC-20
Solve It Transposon-Mediated Chromosome Rearrangements W C - 22
Transposons and Genome Organization?WC-22
Chapter 22 (Online) : The Genetic Control of Animal Development WC-28
Stem-Cell Therapy WC-28
A Genetic Perspective on Development WC-29
Maternal Gene Activity in Development WC-31
Maternal-Effect Genes?WC-31
Determination of the Dorsal-Ventral and Anterior-Posterior Axes?WC-32
Solve It: A Maternal-Effect Mutation in the cinnamon Gene W C - 32
Zygotic Gene Activity in Development WC-35
Body Segmentation?WC-35
Organ Formation?WC-37
Specification of Cell Types?WC-39
Solve It Cave Blindness W C - 39
Problem-Solving Skills The Effects of Mutations during Eye Development W C - 41
Genetic Analysis of Development in Vertebrates WC-41
Vertebrate Homologues of Invertebrate Genes?WC-41
The Mouse: Random Insertion Mutations and Gene-specific Knockout Mutations?WC-42
Studies with Mammalian Stem Cells?WC-43
Reproductive Cloning?WC-44
Genetic Changes in the Differentiation of Vertebrate Immune Cells?WC-45
Chapter 23 (Online) :The Genetic Basis of Cancer WC-51
A Molecular Family Connection WC-51
Cancer: A Genetic Disease WC-52
The Many Forms of Cancer?WC-52
Cancer and the Cell Cycle?WC-53
Cancer and Programmed Cell Death?WC-54
A Genetic Basis for Cancer?WC-54
Oncogenes WC-55
Tumor-Inducing Retroviruses and Viral Oncogenes?WC-55
Cellular Homologues of Viral Oncogenes: The Proto-Oncogenes?WC-56
Solve It : The v-erbB and v-fms Viral Oncogenes WC-56
Mutant Cellular Oncogenes and Cancer?WC-57
Chromosome Rearrangements and Cancer?WC-59
Tumor Suppressor Genes WC-60
Inherited Cancers and Knudson's Two-Hit Hypothesis?WC-60
Cellular Roles of Tumor Suppressor Proteins?WC-63
pRB WC-63
Problem-Solving Skills Estimating Mutation Rates in Retinoblastoma W C - 63
p53 WC-65
Solve It Downstream of p53 WC-65
pAPC WC-67
phMSH2 WC-68
pBRCA1 and pBRCA2 WC-69
Genetic Pathways to Cancer WC-70
Chapter 24 (Online) : Evolutionary Genetics WC-76
D'ou venons nous ? Que sommes nous ? Ou allons nous? WC-76
The Emergence of Evolutionary Theory WC-77
Darwin's Theory of Evolution?WC-77
Evolutionary Genetics?WC-78
Genetic Variation in Natural Populations WC-79
Variation in Phenotypes?WC-79
Variation in Chromosome Structure?WC-80
Variation in Protein Structure?WC-81
Variation in Nucleotide Sequences?WC-81
Molecular Evolution WC-82
Molecules as "Documents of Evolutionary History" WC-83
Molecular Phylogenies?WC-84
Rates of Molecular Evolution?WC-84
Problem-Solving Skills Using Mitochondrial DNA to Establish a Phylogeny W C - 85
The Molecular Clock?WC-87
Variation in the Evolution of Protein Sequences?WC-87
Solve It Calculating Divergence Times W C - 87
Variation in the Evolution of DNA Sequences?WC-88
The Neutral Theory of Molecular Evolution?WC-89
Molecular Evolution and Phenotypic Evolution?WC-90
Solve It Evolution by Mutation and Genetic Drift WC-90
Speciation WC-92
What Is a Species? WC-92
Modes of Speciation?WC-94
Human Evolution WC-96
Humans and the Great Apes?WC-96
Human Evolution in the Fossil Record?WC-96
DNA Sequence Variation and Human Origins?WC-97
Appendices (Online)
Appendix A: The Rules of Probability WA-1
Appendix B: Binomial Probabilities WA-3
Appendix C: Evolutionary Rates WA-5
The Personal Genome 1
an Invitation 2
Three Great Milestones in Genetics 2
Mendel: Genes And The Rules Of Inheritance 2
Watson And Crick: The Structure Of DNA 3
The Human Genome Project: Sequencing DNA And Cataloging Genes 4
DNA as the Genetic Material 6
DNA Replication: Propagating Genetic Information 6
Gene Expression: Using Genetic Information 7
Mutation: Changing Genetic Information 9
Genetics and Evolution 10
Levels of Genetic analysis 11
Classical Genetics 11
Molecular Genetics 11
Population Genetics 12
Genetics in the World: applications of Genetics to human Endeavors 12
Genetics In Agriculture 12
Genetics In Medicine 14
Genetics In Society 15
Chapter 2 : Cellular Reproduction 18
Dolly 18
Cells and Chromosomes 19
The Cellular Environment 19
Prokaryotic And Eukaryotic Cells 20
Chromosomes: Where Genes Are Located 20
Cell Division 23
Mitosis 24
Meiosis 27
Meiosis: An Overview 27
Meiosis I 27
Solve It : how Much DNA in human Meiotic Cells 27
Meiosis II And The Outcomes Of Meiosis 31
Solve It : How Many Chromosome Combinations in Sperm 31
Life Cycles of Some Model Genetic Organisms 32
Saccharomyces Cerevisiae, Baker's Yeast 32
Arabidopsis Thaliana, A Flowering Plant 33
Mus Musculus, The Mouse 34
Problem-Solving Skills Counting
Chromosomes and Chromatids 36
Chapter 3 : Mendelism: The Basic Principles of Inheritance 40
The Birth of Genetics: A Scientific Revolution 40
Mendel's Study of heredity 41
Mendel's Experimental Organism, The Garden Pea 41
Monohybrid Crosses: The Principles of Dominance And Segregation 42
Dihybrid Crosses: The Principle of Independent Assortment 44
Applications of Mendel's principles 46
The Punnett Square Method 46
The Forked-Line Method 46
The Probability Method 47
Solve It : Using probabilities in a Genetic problem 48
Testing Genetic hypotheses 48
Two Examples: Data From Mendel And Devries 49
The Chi-Square Test 49
Solve It : Using the Chi-Square test 52
Mendelian principles in human Genetics 52
Pedigrees 53
Mendelian Segregation In Human Families 54
Genetic Counseling 54
Problem-Solving Skills Making Predictions From Pedigrees 56
Chapter 4 : Extensions of Mendelism 62
Genetics Grows beyond Mendel's Monastery Garden 62
Allelic Variation and Gene Function 63
Incomplete Dominance and Codominance?63
Multiple Alleles?64
Allelic Series?65
Testing Gene Mutations for Allelism?65
Solve It:The Test for Allelism 66
Variation among the Effects of Mutations?66
Genes Function to Produce Polypeptides?67
Why Are Some Mutations Dominant and Others Recessive? 68
Gene Action: From Genotype to Phenotype 69
Influence of the Environment?69
Environmental Effects on the Expression of Human Genes?70
Penetrance and Expressivity?70
Gene Interactions?71
Epistasis?71
Epistasis and Genetic Pathways 72
Pleiotropy?74
Problem-Solving Skills Going from Pathways to Phenotypic Ratios 75
Inbreeding: Another Look at Pedigrees 76
The Effects of Inbreeding?76
Genetic Analysis of Inbreeding?77
Uses Of The Inbreeding Coefficient 80
Solve It : Compound Inbreeding 80
Measuring Genetic Relationships?81
Chapter 5 : The Chromosomal Basis of Mendelism 88
Sex, Chromosomes, and Genes 88
Chromosomes 89
Chromosome Number?89
Sex Chromosomes?89
The Chromosome Theory of Heredity 91
Experimental Evidence Linking the Inheritance of Genes to Chromosomes?91
Nondisjunction as Proof of the Chromosome Theory?92
The Chromosomal Basis of Mendel's Principles of Segregation and Independent Assortment?94
Solve It : Sex Chromosome Nondisjunction 94
Problem-Solving Skills Tracking X-Linked and Autosomal Inheritance 96
Sex-Linked Genes in Humans 97
Hemophilia, an X-Linked Blood-Clotting Disorder?97
Color Blindness, an X-Linked Vision Disorder?97
Genes on the Human Y Chromosome?99
Genes on Both the X and Y Chromosomes?99
SOLVE IT Calculating the Risk for Hemophilia 99
Sex Chromosomes and Sex Determination 99
Sex Determination in Humans?100
Sex Determination in Drosophila 101
Sex Determination in Other Animals?101
Dosage Compensation of X-Linked Genes 103
Hyperactivation of X-linked Genes in Male Drosophila 103
Inactivation of X-linked Genes in Female Mammals?103
Chapter 6 : Variation in Chromosome Number and Structure 109
Chromosomes, Agriculture, and Civilization 109
Cytological Techniques 110
Analysis of Mitotic Chromosomes?110
The Human Karyotype?112
Cytogenetic Variation: An Overview?113
Polyploidy 114
Sterile Polyploids?114
Fertile Polyploids?115
Tissue-Specific Polyploidy and Polyteny?116
Solve It : Chromosome Pairing in Polyploids 116
Aneuploidy 118
Trisomy in Humans?119
Monosomy?120
Problem-Solving Skills : Tracing Sex Chromosome Nondisjunction 122
Deletions and Duplications of Chromosome Segments?122
Rearrangements of Chromosome Structure 124
Inversions?124
Translocations?125
Compound Chromosomes and Robertsonian Translocations?126
Solve It : Pollen Abortion in Translocation Heterozygotes 127
Chapter 7 : Linkage, Crossing Over, and Chromosome Mapping in Eukaryotes 133
The World's First Chromosome Map 133
Linkage, Recombination, and Crossing Over 134
Early Evidence for Linkage and Recombination?134
Crossing Over as the Physical Basis of Recombination?136
Evidence That Crossing Over Causes Recombination?137
Chiasmata and the Time of Crossing Over?138
Chromosome Mapping 139
Crossing Over as a Measure of Genetic Distance?139
Recombination Mapping with a Two-Point Testcross?140
Recombination Mapping with a Three-Point Testcross?140
Solve It : Mapping Two Genes with Testcross Data 141
Problem-Solving Skills Using a Genetic Map to Predict the Outcome of a Cross 144
Recombination Frequency and Genetic Map Distance?144
Cytogenetic Mapping 146
Localizing Genes Using Deletions and Duplications?146
Genetic Distance and Physical Distance?147
Solve It : Cytological Mapping of a Drosophila Gene 148
Linkage Analysis in Humans 148
An Example: Linkage Between Blood Groups
And The Nail-Patella Syndrome 149
Detecting Linkage With Molecular Markers 150
Recombination and Evolution 151
Evolutionary Significance of Recombination?151
Suppression of Recombination by Inversions?152
Chapter 8 : The Genetics of Bacteria and Their Viruses 161
Multi - Drug-Resistant Bacteria: A Ticking Timebomb? 161
Viruses and Bacteria in Genetics 162
The Genetics of Viruses 163
Bacteriophage T4 163
Bacteriophage Lambda?164
The Genetics of Bacteria 167
Mutant Genes in Bacteria?168
Unidirectional Gene Transfer in Bacteria?169
Mechanisms of Genetic Exchange in Bacteria 170
Transformation?171
Mechanism Of Transformation 172
Conjugation?173
Using Conjugation To Map E. Coli Genes 175
Plasmids and Episomes?177
Problem-Solving Skills Mapping Genes Using Conjugation Data 178
F Factors and Sexduction?179
Transduction?180
Solve It : How Can You Map Closely Linked Genes Using Partial Diploids? 181
Evolutionary Significance Of Genetic Exchange In Bacteria 183
Solve It : How Do Bacterial Genomes Evolve? 183
Chapter 9 : DNA and the Molecular Structure of Chromosomes 189
Discovery of Nuclein 189
Proof That Genetic Information Is Stored in DNA and RNA?190
Proof That DNA Mediates Transformation?190
Proof That DNA Carries the Genetic Information in Bacteriophage T2 191
Proof That RNA Stores the Genetic Information in Some Viruses?193
The Structures of DNA and Rna 194
Nature of the Chemical Subunits in DNA and RNA 194
DNA Structure: The Double Helix 195
Problem-Solving Skills Calculating base Content in DNA?199
DNA Structure: Alternate Forms of the Double Helix 199
Solve It : What Are Some Important Features of Double-Stranded DNA? 200
DNA Structure: Negative Supercoils In Vivo 200
Chromosome Structure in Viruses and Prokaryotes 201
Chromosome Structure in Eukaryotes 203
Chemical Composition of Eukaryotic Chromosomes?203
One Large DNA Molecule per Chromosome?204
Nucleosomes 205
Packaging Of Chromatin In Eukaryotic Chromosomes 207
Solve It : How Many Nucleosomes in One Human X Chromosome? 207
Special Features of Eukaryotic Chromosomes 208
Complexity Of DNA In Chromosomes: Unique And Repetitive Sequences 209
Centromeres 211
Telomeres 211
Chapter 10 : Replication of DNA and Chromosomes 217
Monozygotic Twins: Are They Identical? 217
Basic Features of DNA Replication In Vivo 218
Semiconservative Replication Of DNA Molecules 218
Semi conservative replication of eukaryotic chromosomes?220
Origins of Replication?221
Solve It : Semiconservative Replication of DNA?221
Problem-Solving Skills Predicting Patterns of 3 H Labeling in Chromosomes 223
Replication Forks?224
Bidirectional Replication?225
DNA Replication in Prokaryotes 228
Continuous Synthesis of One Strand; Discontinuous Synthesis of the Other Strand?228
Covalent Closure of Nicks in DNA by DNA Ligase?229
Initiation of DNA Replication?230
Initiation of DNA Chains with RNA Primers?230
Unwinding DNA with Helicases, DNA-Binding Proteins, and Topoisomerases?232
Multiple DNA Polymerases?235
Proofreading 237
The Primosome and the Replisome?238
Rolling-Circle Replication?240
Unique Aspects of Eukaryotic Chromosome Replication 241
The Cell Cycle?241
Multiple Replicons per Chromosome?241
Two or More DNA Polymerases at a Single Replication Fork?242
Solve It : Understanding Replication of the Human X Chromosome 243
Duplication of Nucleosomes at Replication Forks?243
Telomerase: Replication of Chromosome Termini?244
Telomere Length and Aging in Humans?245
Chapter 11 : Transcription and RNA Processing 252
Storage and Transmission of Information with Simple Codes 252
Transfer of Genetic Information: The Central Dogma 253
Transcription and Translation?253
Five Types of RNA Molecules?254
The Process of Gene Expression 255
An mRNA Intermediary?255
General Features of RNA Synthesis?257
Problem-Solving Skills Distinguishing RNAs Transcribed from Viral and Host DNAs 258
Transcription in Prokaryotes 259
RNA Polymerases: Complex Enzymes?259
Initiation of RNA Chains?260
Elongation of RNA Chains?260
Termination of RNA Chains?261
Concurrent Transcription, Translation, and mRNA Degradation?262
Transcription and RNA Processing in Eukaryotes 263
Five RNA Polymerases/Five Sets of Genes?263
Initiation of RNA Chains?265
Solve It : Initiation of Transcription by RNA Polymerase II in Eukaryotes 265
RNA Chain Elongation and the Addition of 5 Methyl Guanosine Caps?266
Termination by Chain Cleavage and the Addition of 3 Poly(A) Tails?267
Solve It : Formation of the 3 -Terminus of an RNA Polymerase II Transcript 268
RNA Editing: Altering the Information Content of mRNA Molecules?268
Interrupted Genes in Eukaryotes: Exons and Introns 269
Evidence For Introns 270
Some Very Large Eukaryotic Genes?271
Introns: Biological Significance? 271
Removal of Intron Sequences by RNA Splicing 272
Sequence Signals For RNA Splicing 272
tRNA Precursor Splicing: Unique Nuclease and Ligase Activities?273
Autocatalytic Splicing?273
Pre-mRNA Splicing: snRNAs, snRNPs, and the spliceosome?274
Chapter 12 : Translation and the Genetic Code 280
Sickle - Cell Anemia : Devastating Effects of a Single Amino Acid Change 280
Protein Structure 281
Polypeptides: Twenty Different Amino Acid Subunits?281
Proteins: Complex Three-Dimensional Structures?281
Genes Encode Polypeptides 284
Beadle and Tatum: One Gene-One Enzyme?284
Crick and Colleagues: Each Amino Acid In A Polypeptide Is Specified By Three Nucleotides 286
The Components of Polypeptide Synthesis 289
Overview Of Gene Expression 289
Ribosomes?290
Transfer RNAs 292
The Process of Polypeptide Synthesis 294
Polypeptide Chain Initiation?294
Polypeptide Chain Elongation?298
Polypeptide Chain Termination?300
Solve It : Control of Translation in Eukaryotes 300
The Genetic Code 302
Properties of the Genetic Code?302
Deciphering the Code?302
Initiation and Termination Codons?303
A Degenerate and Ordered Code?303
A Nearly Universal Code?305
Problem-Solving Skills Predicting Amino Acid Substitutions Induced by Mutagens 305
Codon-tRNA Interactions 306
Recognition of Codons by tRNAs: The Wobble Hypothesis?306
Suppressor Mutations That Produce tRNAs with Altered Codon Recognition?307
Solve It : Effects of Base-Pair Substitutions in the Coding Region of the HBB Gene 308
Chapter 13 : Mutation, DNA Repair, and Recombination 313
Xeroderma Pigmentosum : Defective Repair of Damaged DNA in Humans 313
Mutation 314
Somatic and Germinal Mutations 314
Spontaneous and Induced Mutations 314
Forward And Reverse Mutations 315
Usually Deleterious and Recessive 315
The Molecular Basis of Mutation 317
Single Base-Pair Changes And Frameshift Mutations 317
Solve It : Nucleotide-Pair Substitutions in the Human HBB Gene 318
Transposon Insertion Mutations 318
Mutations Caused By Expanding Trinucleotide Repeats 319
Mutagenesis 320
Muller's Demonstration That Mutations Can Be
Induced With X-Rays 320
Inducing Mutations With Radiation 321
Inducing Mutations With Chemicals 323
Screening Chemicals For Mutagenicity: The Ames Test 326
Problem-Solving Skills Predicting Amino Acid
Changes Induced by Chemical Mutagens 327
Assigning Mutations to Genes by the
Complementation Test 329
Lewis's Test For Allelism 329
Applying The Complementation Test: An Example 331
Solve It : How Can You Assign Mutations to Genes? 331
DNA Repair Mechanisms 333
Light-Dependent Repair?333
Excision Repair?333
Other DNA Repair Mechanisms?334
Inherited Human Diseases With Defects
In DNA Repair 336
DNA Recombination Mechanisms 338
Recombination: Cleavage and Rejoining of DNA Molecules?338
Gene Conversion: DNA Repair Synthesis Associated with Recombination?341
Chapter 14 : The Techniques of Molecular Genetics 350
Treatment of Pituitary Dwarfism with Human Growth Hormone 350
Basic Techniques Used to Identify, Amplify, and Clone Genes 351
DNA Cloning: An Overview 351
Restriction Endonucleases?351
Solve It : How Many NotI Restriction Fragments in Chimpanzee DNA? 354
Producing Recombinant DNA Molecules In Vitro 354
Amplification of Recombinant DNA Molecules in Cloning Vectors?354
Cloning Large Genes and Segments of Genomes in BACs, PACs, and YACs 357
Amplification of DNA Sequences by the Polymerase Chain Reaction (PCR) 358
Construction and Screening of DNA Libraries 360
Construction of Genomic Libraries?360
Construction of cDNA Libraries?361
Screening DNA Libraries for Genes of Interest?361
Solve It How Can You Clone a Specific NotI Restriction Fragment from the Orangutan Genome? 363
The Molecular Analysis of DNA, RNA, and Protein 364
Analysis of DNAs by Southern Blot Hybridizations?364
Analysis of RNAs by Northern Blot Hybridizations?365
Analysis of RNAs by Reverse Transcriptase-PCR (RT-PCR) 366
Analysis of Proteins by Western Blot Techniques?368
The Molecular Analysis of Genes and Chromosomes 368
Physical Maps of DNA Molecules Based on Restriction Enzyme Cleavage Sites?369
Nucleotide Sequences of Genes and Chromosomes?370
Problem-Solving Skills Determining the Nucleotide Sequences of Genetic Elements 373
Chapter 15 : Genomics 379
Genomes from Denisova Cave 379
Genomics: An Overview 380
The Scope Of Genomics 380
Genomics Databases 380
Problem-Solving Skills Using Bioinformatics to Investigate DNA Sequences 382
Correlated Genetic, Cytological, and Physical Maps of Chromosomes 382
Genetic, Cytological, and Physical Maps 383
High-Density Genetic Maps of Molecular Markers 384
Contig Maps And Clone Banks 385
Map-Based Cloning Of Genes 387
The Human Genome Project 387
Mapping The Human Genome 388
Sequencing The Human Genome 388
General Features Of The Human Genome 390
Repeated Sequences In The Human Genome 390
Genes In The Human Genome 391
Solve It : What Can You Learn about DNA Sequences Using Bioinformatics? 392
Single-Nucleotide Polymorphisms And The Human Hapmap Project 395
RNA and Protein Assays of Genome Functions 397
Microarrays And Gene Chips 397
The Green Fluorescent Protein As A Reporter Of Protein Presence 400
Genome Diversity and Evolution 401
Prokaryotic Genomes 401
A Living Bacterium With A Chemically Synthesized Genome 403
The Genomes Of Mitochondria And Chloroplasts 404
Eukaryotic Genomes 407
Comparative Genomics: A Way To Study Evolution 408
Paleogenomics 409
Solve It What Do We Know about the Mitochondrial Genome of the Extinct Woolly Mammoth? 411
Chapter 16 : Applications of Molecular Genetics 417
Gene Therapy Improves Sight in Child with Congenital Blindness 417
Use of Recombinant DNA Technology to Identify Human Genes and Diagnose Genetic Diseases 418
Huntington's Disease?418
Problem-Solving Skills Testing for Mutant Alleles that Cause Fragile X Mental Retardation 421
Cystic Fibrosis?421
Molecular Diagnosis of Human Diseases?424
Human Gene Therapy 426
Different Types Of Gene Therapy 426
Gene Therapy Vectors 427
Criteria For Approving Gene Therapy 427
Gene Therapy For Autosomal Immunodeficiency Disease 428
Gene Therapy For X-Linked Immunodeficiency Disease 428
Successful Gene Therapy And Future Prospects 430
DNA Profiling 431
DNA Profiling 431
Paternity Tests?435
Forensic Applications?435
Solve It : How Can DNA Profiles Be Used to Establish Identity? 435
Production of Eukaryotic Proteins in Bacteria 437
Human Growth Hormone?437
Proteins with Industrial Applications?438
Transgenic Animals and Plants 439
Transgenic Animals: Microinjection of DNA into Fertilized Eggs and Transfection of Embryonic Stem Cells?439
Transgenic Plants: The Ti Plasmid of Agrobacterium tumefaciens 440
Reverse Genetics: Dissecting Biological Processes by Inhibiting Gene Expression 442
Knockout Mutations in the Mouse?443
T-DNA and Transposon Insertions?445
RNA Interference?446
Solve It : How Might RNA Interference Be Used to Treat Burkitt's Lymphoma? 448
Genome Engineering 448
The Crispr/Cas9 System For Cleaving DNA Molecules 448
Targeted Mutagenesis With The Crispr/Cas9 System 450
Deleting, Replacing, And Editing Genes With The Crispr/ Cas9 System 452
Chapter 17 : Regulation of Gene Expression in Prokaryotes 459
D'Herelle's Dream 459
Strategies for Regulating Genes in Prokaryotes 460
Constitutive, Inducible, and Repressible Gene Expression 461
Positive and Negative Control of Gene Expression 462
Operons: Coordinately Regulated Units of Gene Expression 464
The Lactose Operon in E. coli: Induction and Catabolite Repression 466
Solve It : Constitutive Mutations in the E. coli lac Operon 468
Induction?468
Catabolite Repression?469
Problem-Solving Skills Testing Your Understanding of the lac Operon 471
Protein-DNA Interactions That Control Transcription of the lac Operon?472
The Tryptophan Operon in E. coli: Repression and Attenuation 474
Repression?474
Attenuation?475
Solve It : Regulation of the Histidine Operon of Salmonella typhimurium 477
Posttranscriptional Regulation of Gene
Expression in Prokaryotes 479
Translational Control of Gene Expression?479
Posttranslational Regulatory Mechanisms?479
Chapter 18 : Regulation of Gene Expression in Eukaryotes 484
African Trypanosomes : A Ward robe of Molecular DisguIses 484
Ways of Regulating Eukaryotic Gene Expression: An Overview 485
Dimensions of Eukaryotic Gene Regulation?485
Controlled Transcription of DNA 485
Alternate Splicing of RNA 486
Cytoplasmic Control of Messenger RNA Stability?486
Solve It : Counting mRNAs 487
Induction of Transcriptional Activity by Environmental and Biological Factors 487
Temperature: The Heat-Shock Genes?488
Signal Molecules: Genes That Respond to Hormones?488
Molecular Control of Transcription in Eukaryotes 490
DNA Sequences Involved in the Control of Transcription?490
Proteins Involved in the Control of Transcription: Transcription Factors?491
Problem-Solving Skills Defining the Sequences Required for a Gene's Expression 492
Posttranscriptional Regulation of Gene Expression by RNA Interference 494
RNAi Pathways?494
Sources of Short Interfering RNAs and MicroRNAs 496
Solve It Using RnAi in Cell Research 497
Gene Expression and Chromatin
Organization 497
Euchromatin and Heterochromatin?498
Molecular Organization of Transcriptionally Active DNA 498
Chromatin Remodeling?499
DNA Methylation?500
Imprinting?502
Activation and Inactivation of Whole Chromosomes 503
Inactivation of X Chromosomes in Mammals?504
Hyperactivation of X Chromosomes in Drosophila 505
Hypoactivation of X Chromosomes in Caenorhabditis 506
Chapter 19 : Inheritance of Complex Traits 511
Cardiovascular Disease: A Combination of Genetic and Environmental Factors 511
Complex Traits 512
Quantifying Complex Traits?512
Genetic and Environmental Factors Influence Quantitative Traits?512
Multiple Genes Influence Quantitative Traits?512
Threshold Traits?514
Statistics of Quantitative Genetics 515
Frequency Distributions?515
The Mean and the Modal Class?516
The Variance and the Standard Deviation?516
Statistical Analysis of Quantitative Traits 517
The Multiple Factor Hypothesis?518
Partitioning the Phenotypic Variance?518
Broad-Sense Heritability?519
Solve It Estimating Genetic and Environmental Variance Components 519
Narrow-Sense Heritability?520
Predicting Phenotypes?521
Solve It Using the Narrow-Sense Heritability 522
Artificial Selection?522
Molecular Analysis of Complex Traits 523
Quantitative Trait Loci?523
Genome-Wide Association Studies Of Human Diseases 526
Problem-Solving Skills Detecting Dominance at a QTL 527
Correlations between Relatives 531
Correlating Quantitative Phenotypes between Relatives?531
Interpreting Correlations between Relatives?533
Quantitative Genetics of Human
Behavioral Traits 535
Intelligence?535
Personality?536
Chapter 20 : Population Genetics 541
A Remote Colony 541
The Theory of Allele Frequencies 542
Estimating Allele Frequencies?542
Relating Genotype Frequencies to Allele Frequencies: The Hardy-Weinberg Principle?543
Applications of the Hardy-Weinberg Principle?543
Exceptions to the Hardy-Weinberg Principle?545
Solve It : The Effects of Inbreeding on Hardy- Weinberg Frequencies 546
Using Allele Frequencies in Genetic Counseling?547
Natural Selection 548
The Concept of Fitness?548
Natural Selection at the Level of the Gene?549
Solve It : Selection against a Harmful Recessive Allele 550
Random Genetic Drift 552
Random Changes in Allele Frequencies?552
The Effects of Population Size?553
Problem-Solving Skills Applying Genetic Drift to Pitcairn Island 554
Populations in Genetic Equilibrium 554
Balancing Selection?555
Mutation-Selection Balance?556
Mutation-Drift Balance?557
Answers to Odd-Numbered Questions and Problems 563
Glossary 584
Index 607
Chapter 21 (Online) : Transposable Genetic Elements WC-1
Maize: A Staple Crop with a Cultural Heritage WC-1
Transposable Elements: An Overview WC-2
Transposable Elements in Bacteria WC-3
Is Elements?WC-3
Composite Transposons?WC-5
The Tn3 Element?WC-5
Solve It: Accumulating Drug-Resistance Genes WC-5
Cut-and-Paste Transposons in Eukaryotes WC-7
Ac and Ds Elements in Maize?WC-7
P Elements and Hybrid Dysgenesis in Drosophila WC-9
Problem-Solving Skills Analyzing
Transposon Activity in Maize W C - 10
Retroviruses and Retrotransposons WC-11
Retroviruses?WC-12
Retroviruslike Elements?WC-14
Retroposons?WC-16
Transposable Elements in Humans WC-17
The Genetic and Evolutionary Significance of Transposable Elements WC-20
Transposons as Mutagens?WC-20
Genetic Transformation with Transposons?WC-20
Solve It Transposon-Mediated Chromosome Rearrangements W C - 22
Transposons and Genome Organization?WC-22
Chapter 22 (Online) : The Genetic Control of Animal Development WC-28
Stem-Cell Therapy WC-28
A Genetic Perspective on Development WC-29
Maternal Gene Activity in Development WC-31
Maternal-Effect Genes?WC-31
Determination of the Dorsal-Ventral and Anterior-Posterior Axes?WC-32
Solve It: A Maternal-Effect Mutation in the cinnamon Gene W C - 32
Zygotic Gene Activity in Development WC-35
Body Segmentation?WC-35
Organ Formation?WC-37
Specification of Cell Types?WC-39
Solve It Cave Blindness W C - 39
Problem-Solving Skills The Effects of Mutations during Eye Development W C - 41
Genetic Analysis of Development in Vertebrates WC-41
Vertebrate Homologues of Invertebrate Genes?WC-41
The Mouse: Random Insertion Mutations and Gene-specific Knockout Mutations?WC-42
Studies with Mammalian Stem Cells?WC-43
Reproductive Cloning?WC-44
Genetic Changes in the Differentiation of Vertebrate Immune Cells?WC-45
Chapter 23 (Online) :The Genetic Basis of Cancer WC-51
A Molecular Family Connection WC-51
Cancer: A Genetic Disease WC-52
The Many Forms of Cancer?WC-52
Cancer and the Cell Cycle?WC-53
Cancer and Programmed Cell Death?WC-54
A Genetic Basis for Cancer?WC-54
Oncogenes WC-55
Tumor-Inducing Retroviruses and Viral Oncogenes?WC-55
Cellular Homologues of Viral Oncogenes: The Proto-Oncogenes?WC-56
Solve It : The v-erbB and v-fms Viral Oncogenes WC-56
Mutant Cellular Oncogenes and Cancer?WC-57
Chromosome Rearrangements and Cancer?WC-59
Tumor Suppressor Genes WC-60
Inherited Cancers and Knudson's Two-Hit Hypothesis?WC-60
Cellular Roles of Tumor Suppressor Proteins?WC-63
pRB WC-63
Problem-Solving Skills Estimating Mutation Rates in Retinoblastoma W C - 63
p53 WC-65
Solve It Downstream of p53 WC-65
pAPC WC-67
phMSH2 WC-68
pBRCA1 and pBRCA2 WC-69
Genetic Pathways to Cancer WC-70
Chapter 24 (Online) : Evolutionary Genetics WC-76
D'ou venons nous ? Que sommes nous ? Ou allons nous? WC-76
The Emergence of Evolutionary Theory WC-77
Darwin's Theory of Evolution?WC-77
Evolutionary Genetics?WC-78
Genetic Variation in Natural Populations WC-79
Variation in Phenotypes?WC-79
Variation in Chromosome Structure?WC-80
Variation in Protein Structure?WC-81
Variation in Nucleotide Sequences?WC-81
Molecular Evolution WC-82
Molecules as "Documents of Evolutionary History" WC-83
Molecular Phylogenies?WC-84
Rates of Molecular Evolution?WC-84
Problem-Solving Skills Using Mitochondrial DNA to Establish a Phylogeny W C - 85
The Molecular Clock?WC-87
Variation in the Evolution of Protein Sequences?WC-87
Solve It Calculating Divergence Times W C - 87
Variation in the Evolution of DNA Sequences?WC-88
The Neutral Theory of Molecular Evolution?WC-89
Molecular Evolution and Phenotypic Evolution?WC-90
Solve It Evolution by Mutation and Genetic Drift WC-90
Speciation WC-92
What Is a Species? WC-92
Modes of Speciation?WC-94
Human Evolution WC-96
Humans and the Great Apes?WC-96
Human Evolution in the Fossil Record?WC-96
DNA Sequence Variation and Human Origins?WC-97
Appendices (Online)
Appendix A: The Rules of Probability WA-1
Appendix B: Binomial Probabilities WA-3
Appendix C: Evolutionary Rates WA-5