Genetics. From Genes to Genomes

Cover......Page 1
Genetics From Genes to Genomes......Page 2
©......Page 3
Contents......Page 7
About the Authors......Page 4
Preface......Page 11
Acknowledgements......Page 23
1.1 DNA: The Fundamental Information Molecule of Life......Page 24
1.2 Proteins: The Functional Molecules of Life Processes......Page 26
1.4 Molecular Similarities of all Life-Forms......Page 27
1.5 The Modular Construction of Genomes......Page 29
1.6 Modern Genetic Techniques......Page 30
1.7 Human Genetics......Page 33
CHAPTER 2 Mendel’s Principles of Heredity......Page 36
2.1 Background: The Historical Puzzle of Inheritance......Page 37
2.2 Genetic Analysis According to Mendel......Page 42
2.3 Mendelian Inheritance in Humans......Page 53
Fast Forward: Genes Encode Proteins......Page 43
Tools of Genetics: Plants as Living Chemical Factories......Page 52
Genetics and Society: Developing Guidelines for Genetic Screening......Page 55
CHAPTER 3 Extensions to Mendel’s Laws......Page 66
3.1 Extensions to Mendel for Single-Gene Inheritance......Page 67
3.2 Extensions to Mendel for Multifactorial Inheritance......Page 77
Fast Forward: Gene Therapy for Sickle-Cell Disease in Mice......Page 78
Genetics and Society: Disease Prevention Versus the Right to Privacy......Page 90
CHAPTER 4 The Chromosome Theory of Inheritance......Page 102
4.1 Chromosomes: The Carriers of Genes......Page 103
4.2 Mitosis: Cell Division That Preserves Chromosome Number......Page 109
4.3 Meiosis: Cell Divisions That Halve Chromosome Number......Page 115
4.4 Gametogenesis......Page 123
4.5 Validation of the Chromosome Theory......Page 124
Genetics and Society: Prenatal Genetic Diagnosis......Page 106
Fast Forward: How Gene Mutations Cause Errors in Mitosis......Page 114
CHAPTER 5 Linkage, Recombination, and the Mapping of Genes on Chromosomes......Page 141
5.1 Gene Linkage and Recombination......Page 142
5.2 The Chi-Square Test and Linkage Analysis......Page 145
5.3 Recombination: A Result of Crossing-Over During Meiosis......Page 148
5.4 Mapping: Locating Genes Along a Chromosome......Page 152
5.5 Tetrad Analysis in Fungi......Page 158
5.6 Mitotic Recombination and Genetic Mosaics......Page 169
Tools of Genetics: The Chi-Square Test......Page 147
Fast Forward: Gene Mapping May Lead to a Cure for Cystic Fibrosis......Page 160
Genetics and Society: Mitotic Recombination and Cancer Formation......Page 171
CHAPTER 6 DNA: Structure, Replication, and Recombination......Page 185
6.1 Experimental Evidence for DNA as the Genetic Material......Page 186
6.2 The Watson and Crick Double Helix Model of DNA......Page 191
6.3 Genetic Information in DNA Base Sequence......Page 198
6.4 DNA Replication......Page 202
6.5 Recombination at the DNA Level......Page 209
Tools of Genetics: Restriction Enzyme Recognition Sites......Page 200
CHAPTER 7 Anatomy and Function of a Gene: Dissection Through Mutation......Page 222
7.1 Mutations: Primary Tools of Genetic Analysis......Page 223
7.2 What Mutations Tell Us About Gene Structure......Page 239
7.3 What Mutations Tell Us About Gene Function......Page 247
7.4 A Comprehensive Example: Mutations That Affect Vision......Page 254
Genetics and Society: Unstable Trinucleotide Repeats and Fragile X Syndrome......Page 231
Fast Forward: Using Mutagenesis to Look at Biological Processes......Page 255
CHAPTER 8 Gene Expression: The Flow of Information from DNA to RNA to Protein......Page 269
8.1 The Genetic Code......Page 270
8.2 Transcription: From DNA to RNA......Page 279
8.3 Translation: From mRNA to Protein......Page 288
8.4 Differences in Gene Expression Between Prokaryotes and Eukaryotes......Page 295
8.5 A Comprehensive Example: Computerized Analysis of Gene Expression in C. elegans......Page 297
8.6 The Effect of Mutations on Gene Expression and Gene Function......Page 299
Genetics and Society: HIV and Reverse Transcription......Page 283
CHAPTER 9 Digital Analysis of DNA......Page 313
9.1 Sequence-Specific DNA Fragmentation......Page 314
9.2 Cloning Fragments of DNA......Page 320
9.3 Hybridization......Page 329
9.4 The Polymerase Chain Reaction......Page 333
9.5 DNA Sequence Analysis......Page 336
9.6 Bioinformatics: Information Technology and Genomes......Page 340
9.7 The Hemoglobin Genes: A Comprehensive Example......Page 345
Tools of Genetics: Serendipity in Science: The Discovery of Restriction Enzymes......Page 316
Genetics and Society: The Use of Recombinant DNA Technology and Pest- Resistant Crops......Page 327
CHAPTER 10 Genomes and Proteomes......Page 357
10.1 Large-Scale Genome Mapping and Analysis......Page 359
10.2 Major Insights from Human and Model Organism Genome Sequences......Page 364
10.3 Global Analysis of Genes and Their mRNAs......Page 371
10.4 Global Analysis of Proteomes......Page 375
10.5 Repercussions of the Human Genome Project and High-Throughput Technology......Page 382
Genetics and Society: Patentability of DNA......Page 383
CHAPTER 11 Genome-Wide Variation and Trait Analysis......Page 391
11.1 Genetic Variation Among Individual Genomes......Page 393
11.2 (SNPs) and Small-Scale-Length Variations......Page 394
11.3 Deletions or Duplications of a DNA Region......Page 402
11.4 Positional Cloning: From DNA Markers to Disease-Causing Genes......Page 407
11.5 Complex Traits......Page 410
11.6 Genome-Wide Association Studies......Page 413
Genetics and Society: Social and Ethical Issues Surrounding Preimplantation Genetic Diagnosis......Page 416
CHAPTER 12 The Eukaryotic Chromosome......Page 428
12.1 Chromosomal DNA and Proteins......Page 429
12.2 Chromosome Structure and Compaction......Page 431
12.3 Chromosomal Packaging and Function......Page 436
12.4 Replication and Segregation of Chromosomes......Page 440
CHAPTER 13 Chromosomal Rearrangements and Changes in Chromosome Number......Page 452
13.1 Rearrangements of DNA Sequences......Page 453
13.2 Transposable Genetic Elements......Page 470
13.3 Rearrangements and Evolution: A Speculative Comprehensive Example......Page 476
13.4 Changes in Chromosome Number......Page 477
13.5 Emergent Technologies: Beyond the Karyotype......Page 486
Fast Forward: Programmed DNA Rearrangements and the Immune System......Page 455
CHAPTER 14 Prokaryotic and Organelle Genetics......Page 500
14.1 A General Overview of Bacteria......Page 501
14.2 Bacterial Genomes......Page 504
14.3 Gene Transfer in Bacteria......Page 509
14.4 Bacterial Genetic Analysis......Page 519
14.5 The Genetics of Chloroplasts and Mitochondria......Page 521
14.6 Non-Mendelian Inheritance of Chloroplasts and Mitochondria......Page 526
14.7 mtDNA Mutations and Human Health......Page 531
Genetics and Society: Mitochondrial DNA Tests as Evidence of Kinship in Argentine Courts......Page 530
CHAPTER 15 Gene Regulation in Prokaryotes......Page 542
15.1 Overview of Prokaryotic Gene Regulation......Page 543
15.2 The Regulation of Gene Transcription......Page 544
15.3 Attenuation of Gene Expression: Termination of Transcription......Page 558
15.4 Global Regulatory Mechanisms......Page 560
15.5 A Comprehensive Example: The Regulation of Virulence Genes in V. cholerae......Page 565
Genetics and Society: Nitrogen Fixation and Gene Regulation......Page 563
CHAPTER 16 Gene Regulation in Eukaryotes......Page 575
16.1 Overview of Eukaryotic Gene Regulation......Page 576
16.2 Control of Transcription Initiation......Page 577
16.3 Chromatin Structure and Epigenetic Effects......Page 585
16.4 Regulation After Transcription......Page 591
16.5 A Comprehensive Example: Sex Determination in Drosophila......Page 596
Tools of Genetics: RNA Interference and Treatment of Disease......Page 597
CHAPTER 17 Somatic Mutation and the Genetics of Cancer......Page 609
17.1 Overview: Initiation of Division......Page 610
17.2 Cancer: A Failure of Control Over Cell Division......Page 612
17.3 The Normal Control of Cell Division......Page 623
Genetics and Society: The Uses of Genetic Testing in Predicting and Treating Cancer......Page 632
CHAPTER 18 Using Genetics to Study Development......Page 640
18.1 Model Organisms: Prototypes for Developmental Genetics......Page 642
18.2 Using Mutations to Dissect Development......Page 643
18.3 Analysis of Developmental Pathways......Page 651
18.4 A Comprehensive Example: Body-Plan Development in Drosophila......Page 656
18.5 How Genes Help Control Development......Page 668
Genetics and Society: Stem Cells and Human Cloning......Page 646
CHAPTER 19 Variation and Selection in Populations......Page 678
19.1 The Hardy-Weinberg Law: Predicting Genetic Variation in Populations......Page 679
19.2 Causes of Allele Frequency Changes......Page 686
19.3 Analyzing Quantitative Variation......Page 697
Genetics and Society: DNA Analysis and 9/11 Victim Identification......Page 704
CHAPTER 20 Evolution at the Molecular Level......Page 713
20.1 The Origin of Life on Earth......Page 714
20.2 The Evolution of Genomes......Page 718
20.3 The Organization of Genomes......Page 724
20.4 A Comprehensive Example: Rapid Evolution in the Immune Response and in HIV......Page 732
Genetics and Society: Evolution Versus Intelligent Design......Page 722
CHAPTER 21 Systems Biology and the Future of Medicine......Page 738
21.1 What Is Systems Biology?......Page 739
21.2 Biology as an Informational Science......Page 741
21.3 The Practice of Systems Biology......Page 744
21.4 A Systems Approach to Disease......Page 748
Guidelines for Gene Nomenclature......Page 754
Brief Answer Section......Page 756
Glossary......Page 768
Credits......Page 792
Index......Page 796