Genetics: Analysis and Principles, Eighth Edition
By Robert J. Brooker
Table of contents:
Preface vii
U N I T I
Introduction 1
1 Overview Of Genetics 1
1.1 The Molecular Expression of Genes 3
1.2 The Relationship Between Genes
and Traits 6
1.3 Fields of Genetics 11
1.4 The Science of Genetics 13
1.5 Gender Identity Versus Sex 14
1.6 The Meaning of Normal in Genetics16
U N I T I I
Patterns Of Inheritance 21
2 Chromosome Transmission During Cell Division And Sexual Reproduction 21
2.1 General Features of Chromosomes 21
2.2 Cell Division 25
2.3 Mitosis and Cytokinesis 29
2.4 Meiosis 32
2.5 Sexual Reproduction 37
2.6 Sex Chromosomes and Sex
Determination 39
3 Mendelian Inheritance 47
3.1 Mendel’s Study of Pea Plants 48
3.2 Law of Segregation 51
3.3 Law of Independent Assortment 55
3.4 The Chromosome Theory of
Inheritance 61
3.5 Studying Inheritance Patterns in
Humans 66
3.6 Probability and Statistics 67
4 Extensions Of Mendelian Inheritance 81
4.1 Overview of Mendelian Inheritance
Patterns 82
4.2 Dominant and Recessive Alleles 83
4.3 Environmental Effects on Gene
Expression 86
4.4 Incomplete Dominance, Heterozygote
Advantage, and Codominance 87
4.5 Genes on Sex Chromosomes 92
4.6 Sex-Influenced and Sex-Limited
Inheritance 94
4.7 Lethal Alleles 96
4.8 Understanding Complex Phenotypes
Caused by Mutations in Single
Genes 97
4.9 Gene Interactions 99
5 Non-Mendelian Inheritance 110
5.1 Maternal Effect 111
5.2 Epigenetics: Dosage
Compensation 114
5.3 Epigenetics: Genomic Imprinting 120
5.4 Extranuclear Inheritance 124
6 Genetic Linkage And Mapping In Eukaryotes 136
6.1 Overview of Linkage 136
6.2 Relationship Between Linkage and Crossing
Over 138
6.3 Genetic Mapping in Plants and
Animals 144
6.4 Genetic Mapping in Haploid
Eukaryotes 151
6.5 Mitotic Recombination 154
7 Genetic Transfer And Mapping In Bacteria 164
7.1 Overview of Genetic Transfer in
Bacteria 165
7.2 Bacterial Conjugation 166
7.3 Conjugation and Mapping via Hfr
Strains 170
7.4 Bacterial Transduction 175
7.5 Bacterial Transformation 176
7.6 Medical Relevance of Horizontal Gene
Transfer 178
8 Variation In Chromosome Structure And Number 183
8.1 Microscopic Examination of Eukaryotic
Chromosomes 183
8.2 Changes in Chromosome Structure: An
Overview 186
8.3 Deletions and Duplications 187
8.4 Inversions and Translocations 194
8.5 Changes in Chromosome Number: An
Overview 200
8.6 Variation in the Number of Chromosomes
Within a Set: Aneuploidy 201
8.7 Variation in the Number of Sets of
Chromosomes 203
8.8 Natural and Experimental Mechanisms
That Produce Variation in Chromosome
Number 206
U N I T I I I
Molecular Structure And Replication Of The Genetic Material 217
9 Molecular Structure Of Dna And Rna 217
9.1 Identification of DNA as the Genetic
Material 217
9.2 Overview of DNA and RNA
Structure 221
9.3 Nucleotide Structure 221
9.4 Structure of a DNA Strand 223
9.5 Discovery of the Double Helix 224
9.6 Structure of the DNA Double Helix 228
9.7 RNA Structure 231
10 Molecular Structure Of Chromosomes And Transposable Elements 237
10.1 Organization of Functional Sites
Along Prokaryotic Chromosomes 237
10.2 Structure of Prokaryotic
Chromosomes 238
10.3 Organization of Functional Sites
Along Eukaryotic Chromosomes 243
10.4 Sizes of Eukaryotic Genomes and
Repetitive Sequences 244
10.5 Transposition 246
10.6 Structure of Eukaryotic Chromosomes
in Nondividing Cells 253
10.7 Structure of Eukaryotic Chromosomes
During Cell Division 261
11 Dna Replication 270
11.1 Structural Overview of DNA
Replication 270
11.2 Bacterial DNA Replication: The
Formation of Two Replication Forks at
the Origin of Replication 274
11.3 Bacterial DNA Replication: Synthesis of
New DNA Strands 277
11.4 Bacterial DNA Replication: Chemistry
and Accuracy 284
11.5 Eukaryotic DNA Replication 286
U N I T I V
Molecular Properties Of Genes 298
12 Gene Transcription And Rna Modification 298
12.1 Overview of Transcription 298
12.2 Transcription in Bacteria 301
12.3 Transcription in Eukaryotes 306
12.4 RNA Modification 311
12.5 A Comparison of Transcription and RNA
Modification in Bacteria, Archaea, and
Eukaryotes 320
13 Translation Of Mrna 328
13.1 The Genetic Basis for Protein
Synthesis 328
13.2 The Relationship Between the Genetic
Code and Protein Synthesis 331
13.3 Experimental Determination of the
Genetic Code 337
13.4 Structure and Function of tRNA 341
13.5 Ribosome Structure and
Assembly 344
13.6 Stages of Translation 346
13.7 Regulation of Translation 352
13.8 A Comparison of Translation in Bacteria,
Archaea, and Eukaryotes 354
14 Gene Regulation In Bacteria 361
14.1 Overview of Transcriptional
Regulation 362
14.2 Regulation of the lac Operon 364
14.3 Regulation of the trp Operon 374
14.4 Translational and Posttranslational
Regulation 378
14.5 Riboswitches 380
15 Gene Regulation In Eukaryotes I: General Features Of Transcriptional Regulation 387
15.1 Regulatory Transcription Factors and
Enhancers 388
15.2 Chromatin Remodeling, Histone
Variants, and Histone
Modifications 392
15.3 DNA Methylation 395
15.4 Gene Activation and Gene
Repression 397
15.5 A Comparison of Transcriptional
Regulation in Bacteria, Archaea, and
Eukaryotes 406
16 Gene Regulation In Eukaryotes Ii: Epigenetics 413
16.1 Overview of Epigenetics 413
16.2 Heterochromatin: Function, Structure,
Formation, and Maintenance 417
16.3 Epigenetics and Development 424
16.4 Paramutation 430
16.5 Epigenetics and Environmental
Agents 433
17 Non-Coding Rnas 441
17.1 Overview of Non-coding RNAs 442
17.2 Non-coding RNAs: Effects on Chromatin
Structure and Transcription 446
17.3 Non-coding RNAs: Effects on Translation
and mRNA Degradation 447
17.4 Non-coding RNAs: Effects on RNA
Modifications 452
17.5 Non-coding RNAs and Protein
Targeting 454
17.6 Non-coding RNAs and Genome
Defense 455
17.7 Role of Non-coding RNAs in Human
Diseases and Plant Health 459
18 Genetics Of Viruses 464
18.1 Virus Structure and Genetic
Composition 464
18.2 Overview of Viral Reproductive
Cycles 469
18.3 Bacteriophage λ Reproductive Cycles 475
18.4 HIV Reproductive Cycle 481
19 Gene Mutation, Dna Repair, And Recombination 493
19.1 Effects of Mutations on Gene Structure
and Function 494
19.2 Random Nature of Mutations 501
19.3 Spontaneous Mutations 503
19.4 Induced Mutations 508
19.5 DNA Repair 512
19.6 Homologous Recombination 518
U N I T V
Genetic Technologies 530
20 Molecular Technologies 530
20.1 Gene Cloning Using Vectors 531
20.2 Polymerase Chain Reaction 540
20.3 DNA Sequencing 545
20.4 Gene Editing via CRISPR-Cas
Technology 547
20.5 Blotting Methods to Detect Gene
Products 551
20.6 Methods for Analyzing DNA- and RNA-
Binding Proteins 553
21 Biotechnology 561
21.1 Uses of Microorganisms in
Biotechnology 561
21.2 Vaccines 564
21.3 Genetically Modified Animals 567
21.4 Reproductive Cloning and Stem
Cells 571
21.5 Genetically Modified Plants 576
22 GENOMICS I: ANALYSIS OF DNA 584
22.1 Overview of Chromosome Mapping 585
22.2 Cytogenetic Mapping via
Microscopy 585
22.3 Linkage Mapping via Crosses 588
22.4 Chromosome Walking and Primer Walking 591
22.5 Overview of Genome Sequencing 593
22.6 Genome-Sequencing Projects 597
22.7 Metagenomics 602
23 Genomics Ii: Functional Genomics, Proteomics, And Bioinformatics 609
23.1 Functional Genomics 610
23.2 Proteomics 614
23.3 Bioinformatics I: Overview of Computer
Analyses and Gene Prediction 619
23.4 Bioinformatics II: Databases 622
23.5 Bioinformatics III: Homology 623
U N I T V I
Genetic Analysis Of Individuals And Populations 631
24 Medical Genetics 631
24.1 Inheritance Patterns of Genetic
Diseases 631
24.2 Detection of Disease-Causing Alleles via
Haplotypes and via Genome-Wide
Association Studies 638
24.3 Genetic Testing and Screening 642
24.4 Prions 644
24.5 Human Gene Therapy 646
24.6 Personalized Medicine 649
25 Genetic Basis Of Cancer 657
25.1 Overview of Cancer 657
25.2 Oncogenes 658
25.3 Tumor-Suppressor Genes 662
25.4 Role of Epigenetics in Cancer 668
25.5 Cancer Therapeutics 670
26 Developmental Genetics 679
26.1 Overview of Animal Development 679
26.2 Invertebrate Development 684
26.3 Vertebrate Development 695
26.4 Plant Development 699
26.5 Sex Determination in Animals 702
27 Population Genetics 711
27.1 Genes in Populations and the Hardy-
Weinberg Equation 711
27.2 An Introduction to Microevolution 717
27.3 Overview of Natural Selection 717
27.4 Patterns of Natural Selection 720
27.5 Genetic Drift 727
27.6 Migration 730
27.7 Nonrandom Mating 731
27.8 Sources of New Genetic Variation 732
28 Complex And Quantitative Traits 746
28.1 Overview of Complex and
Quantitative Traits 746
28.2 Statistical Methods for Evaluating
Quantitative Traits 748
28.3 Polygenic Inheritance 751
28.4 Identification of Genes That Control
Quantitative Traits 754
28.5 Heritability 756
28.6 Selective Breeding 761
29 Evolutionary Genetics 772
29.1 Overview of Evolution 773
29.2 Identification of Species and Mechanisms
of Reproductive Isolation 774
29.3 Speciation 777
29.4 Phylogenetic Trees 782
29.5 Molecular Evolution 789
Appendix A: Experimental
Techniques A-1
Appendix B: Solutions to Even-
Numbered Problems and All
Comprehension and Concept
Check Questions B-1
Glossary G-1
Index I-1