Genetics. A Conceptual Approach

857 Pages·2012·22.807 MB·English

by  Pierce B.

Publisher: Kate Ahr Parker
Executive Editor: Susan Winslow
Development Editor: Lisa Samols
Senior Project Editor: Georgia Lee Hadler
Manuscript Editor: Patricia Zimmerman
Art Director: Diana Blume
Illustrations: Dragonfly Media Group
Illustration Coordinator: Janice Donnola
Photo Editor: Ted Szczepanski
Photo Researcher: Elyse Rieder
Production Coordinator: Paul Rohloff
Media Editor: Aaron Gass
Supplements Editor: Anna Bristow
Associate Director of Marketing: Debbie Clare
Composition: Preparé
Printing and Binding: RR Donnelly
Library of Congress Control Number: 2010934358
© 2012, 2008, 2006, 2003 by W. H. Freeman and Company. All rights reserved.
ISBN-13: 978-1-4292-3250-0
ISBN-10: 1-4292-3250-1
Printed in the United States of America
First printing
W. H. Freeman and Company
41 Madison Avenue
New York, NY 10010
Houndsmills, Basingstoke RG21 6XS. England
www.whfreeman.com
Genetics
A Conceptual
Approach
FOURTH EDITION
Benjamin A. Pierce
Southwestern University
W. H. Freeman and Company
New York
To my parents, Rush and Amanda Pierce;
my children, Sarah and Michael Pierce;
and my genetic partner, friend, and soul mate
for 30 years, Marlene Tyrrell
Contents in Brief
1 Introduction to Genetics 1
2 Chromosomes and Cellular Reproduction 15
3 Basic Principles of Heredity 43
4 Sex Determination and Sex-Linked Characteristics 73
5 Extensions and Modifications of Basic Principles 99
6 Pedigree Analysis, Applications, and Genetic Testing 135
7 Linkage, Recombination, and Eukaryotic Gene Mapping 161
8 Bacterial and Viral Genetic Systems 203
9 Chromosome Variation 239
10 DNA: The Chemical Nature of the Gene 271
11 Chromosome Structure and Transposable Elements 291
12 DNA Replication and Recombination 321
13 Transcription 351
14 RNA Molecules and RNA Processing 375
15 The Genetic Code and Translation 401
16 Control of Gene Expression in Prokaryotes 431
17 Control of Gene Expression in Eukaryotes 459
18 Gene Mutations and DNA Repair 481
19 Molecular Genetic Analysis and Biotechnology 513
20 Genomics and Proteomics 557
21 Organelle DNA 591
22 Developmental Genetics and Immunogenetics 611
23 Cancer Genetics 637
24 Quantitative Genetics 659
25 Population Genetics 693
26 Evolutionary Genetics 721
Reference Guide to Model Genetic Organisms A1
This page intentionally left blank
Contents
Letter from the Author xv The Separation of Sister Chromatids and Homologous
Chromosomes 31
Preface xvi
Meiosis in the Life Cycles of Animals and Plants 33
Chapter 1 Introduction to Genetics 1
Chapter 3 Basic Principles
of Heredity 43
ALBINISM IN THE HOPIS 1
1.1 Genetics Is Important to Us Individually, to Society, THE GENETICS OF RED HAIR 43
and to the Study of Biology 2
3.1 Gregor Mendel Discovered the Basic Principles
The Role of Genetics in Biology 4
of Heredity 44
Genetic Diversity and Evolution 4
Mendel’s Success 45
Divisions of Genetics 5
Genetic Terminology 46
Model Genetic Organisms 5
3.2 Monohybrid Crosses Reveal the Principle of
1.2 Humans Have Been Using Genetics for Thousands
Segregation and the Concept of Dominance 47
of Years 7
What Monohybrid Crosses Reveal 48
The Early Use and Understanding of Heredity 7
The Rise of the Science of Genetics 9 Connecting Concepts: Relating Genetic Crosses to Meiosis 49
The Future of Genetics 10
Predicting the Outcomes of Genetic Crosses 51
1.3 A Few Fundamental Concepts Are Important for The Testcross 55
the Start of Our Journey into Genetics 11
Genetic Symbols 55
Connecting Concepts: Ratios in Simple Crosses 55
Chapter 2 Chromosomes and
Cellular Reproduction 15 3.3 Dihybrid Crosses Reveal the Principle
of Independent Assortment 56
THE BLIND MEN’S RIDDLE 15
Dihybrid Crosses 56
2.1 Prokaryotic and Eukaryotic Cells Differ in a
The Principle of Independent Assortment 56
Number of Genetic Characteristics 17
Relating the Principle of Independent
Assortment to Meiosis 57
2.2 Cell Reproduction Requires the Copying of the
Genetic Material, Separation of the Copies, and Applying Probability and the Branch Diagram
to Dihybrid Crosses 57
Cell Division 18
The Dihybrid Testcross 59
Prokaryotic Cell Reproduction 18
3.4 Observed Ratios of Progeny May Deviate from
Eukaryotic Cell Reproduction 18
Expected Ratios by Chance 61
The Cell Cycle and Mitosis 21
The Goodness-of-Fit Chi-Square Test 61
Genetic Consequences of the Cell Cycle 24
Connecting Concepts: Counting Chromosomes and DNA Chapter 4 Sex Determination and
Molecules 25
Sex-Linked Characteristics 73
2.3 Sexual Reproduction Produces Genetic Variation
THE STRANGE CASE OF PLATYPUS SEX 73
Through the Process of Meiosis 25
4.1 Sex Is Determined by a Number of Different
Meiosis 26
Mechanisms 74
Sources of Genetic Variation in Meiosis 29
Chromosomal Sex-Determining Systems 75
Connecting Concepts: Mitosis and Meiosis Compared 31
Genic Sex Determination 77
v
vi Contents
Environmental Sex Determination 77 Genetic Maternal Effect 119
Sex Determination in Drosophila melanogaster 78 Genomic Imprinting 120
Sex Determination in Humans 79 5.4 Anticipation Is the Stronger or Earlier Expression
4.2 Sex-Linked Characteristics Are Determined of Traits in Succeeding Generations 122
by Genes on the Sex Chromosomes 81
5.5 The Expression of a Genotype May Be Affected
X-Linked White Eyes in Drosophila 81 by Environmental Effects 123
Nondisjunction and the Chromosome Theory
Environmental Effects on the Phenotype 123
of Inheritance 82
The Inheritance of Continuous Characteristics 124
X-Linked Color Blindness in Humans 84
Symbols for X-Linked Genes 85
Z-Linked Characteristics 85
Chapter 6 Pedigree Analysis, Applications,
Y-Linked Characteristics 86
and Genetic Testing 135
Connecting Concepts: Recognizing Sex-Linked
Inheritance 88 HUTCHINSON–GILFORD SYNDROME
AND THE SECRET OF AGING 135
4.3 Dosage Compensation Equalizes the Amount of
Protein Produced by X-Linked Genes in Males 6.1 The Study of Genetics in Humans Is
and Females 88 Constrained by Special Features of Human
Biology and Culture 136
Lyon Hypothesis 89
Mechanism of Random X Inactivation 90 6.2 Geneticists Often Use Pedigrees to
Dosage Imbalance Between X-Linked Genes Study the Inheritance of Characteristics
and Autosomal Genes 90 in Humans 137
Symbols Used in Pedigrees 137
Chapter 5 Extensions and Modifications Analysis of Pedigrees 137
of Basic Principles 99 Autosomal Recessive Traits 138
Autosomal Dominant Traits 139
CUÉNOT’S ODD YELLOW MICE 99 X-Linked Recessive Traits 139
5.1 Additional Factors at a Single Locus Can Affect X-Linked Dominant Traits 141
the Results of Genetic Crosses 100 Y-Linked Traits 142
Types of Dominance 100 6.3 Studying Twins and Adoptions Can Help
Penetrance and Expressivity 103 Assess the Importance of Genes and
Lethal Alleles 103 Environment 143
Multiple Alleles 104 Types of Twins 143
Concordance in Twins 144
5.2 Gene Interaction Takes Place When Genes at
Multiple Loci Determine a Single Phenotype 106 A Twin Study of Asthma 145
Adoption Studies 146
Gene Interaction That Produces Novel Phenotypes 106
Gene Interaction with Epistasis 107 6.4 Genetic Counseling and Genetic Testing Provide
Information to Those Concerned about Genetic
Connecting Concepts: Interpreting Ratios Produced
Diseases and Traits 146
by Gene Interaction 111
Genetic Counseling 146
Complementation: Determining Whether Mutations Are
Genetic Testing 148
at the Same Locus or at Different Loci 113
Interpreting Genetic Tests 152
The Complex Genetics of Coat Color in Dogs 113
Direct-to-Consumer Genetic Testing 153
5.3 Sex Influences the Inheritance and Expression Genetic Discrimination and Privacy 153
of Genes in a Variety of Ways 115
6.5 Comparison of Human and Chimpanzee Genomes
Sex-Influenced and Sex-Limited Characteristics 115 Is Helping to Reveal Genes That Make Humans
Cytoplasmic Inheritance 117 Unique 153
Contents vii
Chapter 7 Linkage, Recombination, and 8.1 Genetic Analysis of Bacteria Requires Special
Methods 204
Eukaryotic Gene Mapping 161
Bacterial Diversity 204
LINKED GENES AND BALD HEADS 161 Techniques for the Study of Bacteria 205
7.1 Linked Genes Do Not Assort Independently 162 The Bacterial Genome 206
Plasmids 206
7.2 Linked Genes Segregate Together and
8.2 Bacteria Exchange Genes Through Conjugation,
Crossing Over Produces Recombination
Transformation, and Transduction 208
Between Them 163
Conjugation 208
Notation for Crosses with Linkage 164
Natural Gene Transfer and Antibiotic Resistance 215
Complete Linkage Compared with Independent
Assortment 164 Transformation in Bacteria 216
Crossing Over with Linked Genes 166 Bacterial Genome Sequences 218
Calculating Recombination Frequency 167 Horizontal Gene Transfer 218
Coupling and Repulsion 168 8.3 Viruses Are Simple Replicating Systems Amenable
to Genetic Analysis 219
Connecting Concepts: Relating Independent Assortment,
Linkage, and Crossing Over 169 Techniques for the Study of Bacteriophages 219
Transduction: Using Phages to Map Bacterial Genes 220
Evidence for the Physical Basis of Recombination 170
Predicting the Outcomes of Crosses with Linked Genes 171 Connecting Concepts: Three Methods for Mapping
Testing for Independent Assortment 172 Bacterial Genes 223
Gene Mapping with Recombination Frequencies 174
Gene Mapping in Phages 223
Constructing a Genetic Map with the Use of Two-Point
Fine-Structure Analysis of Bacteriophage Genes 224
Testcrosses 175
RNA Viruses 227
7.3 A Three-Point Testcross Can Be Used to Map
Human Immunodeficiency Virus and AIDS 227
Three Linked Genes 176
Influenza Virus 229
Constructing a Genetic Map with the
Three-Point Testcross 177
Chapter 9 Chromosome Variation 239
Connecting Concepts: Stepping Through the
Three-Point Cross 182
TRISOMY 21 AND THE DOWN-SYNDROME CRITICAL
REGION 239
Effect of Multiple Crossovers 184
Mapping Human Genes 185 9.1 Chromosome Mutations Include Rearrangements,
Mapping with Molecular Markers 186 Aneuploids, and Polyploids 240
Locating Genes with Genomewide Association Studies 186
Chromosome Morphology 240
7.4 Physical-Mapping Methods Are Used to Determine Types of Chromosome Mutations 241
the Physical Positions of Genes on Particular
9.2 Chromosome Rearrangements Alter Chromosome
Chromosomes 187
Structure 242
Deletion Mapping 188
Duplications 242
Somatic-Cell Hybridization 188
Deletions 244
Physical Chromosome Mapping Through
Inversions 246
Molecular Analysis 190
Translocations 248
7.5 Recombination Rates Exhibit Extensive
Fragile Sites 251
Variation 191
Copy-Number Variations 252
Chapter 8 Bacterial and Viral 9.3 Aneuploidy Is an Increase or Decrease in the
Number of Individual Chromosomes 252
Genetic Systems 203
Types of Aneuploidy 252
LIFE IN A BACTERIAL WORLD 203 Effects of Aneuploidy 252
viii Contents
Aneuploidy in Humans 254 11.2 Eukaryotic Chromosomes Possess Centromeres
Uniparental Disomy 257 and Telomeres 299
Mosaicism 257 Centromere Structure 299
9.4 Polyploidy Is the Presence of More than Two Sets Telomere Structure 300
of Chromosomes 258 Artificial Chromosomes 301
Autopolyploidy 258 11.3 Eukaryotic DNA Contains Several Classes
Allopolyploidy 260 of Sequence Variation 301
The Significance of Polyploidy 261 The Denaturation and Renaturation of DNA 301
9.5 Chromosome Variation Plays an Important Role Types of DNA Sequences in Eukaryotes 302
in Evolution 262 11.4 Transposable Elements Are DNA Sequences
Capable of Moving 303
Chapter 10 DNA: The Chemical Nature General Characteristics of Transposable Elements 303
Transposition 303
of the Gene 271
The Mutagenic Effects of Transposition 306
NEANDERTHAL’S DNA 271 The Regulation of Transposition 308
11.5 Different Types of Transposable Elements Have
10.1 Genetic Material Possesses Several Key
Characteristic Structures 308
Characteristics 272
Transposable Elements in Bacteria 308
10.2 All Genetic Information Is Encoded in the Structure
Transposable Elements in Eukaryotes 310
of DNA or RNA 272
Early Studies of DNA 272 Connecting Concepts: Classes of Transposable Elements 314
DNA As the Source of Genetic Information 274
11.6 Transposable Elements Have Played an Important
Watson and Crick’s Discovery of the Three-Dimensional
Role in Genome Evolution 314
Structure of DNA 277
RNA As Genetic Material 278 The Evolution of Transposable Elements 314
Domestication of Transposable Elements 315
10.3 DNA Consists of Two Complementary and
Antiparallel Nucleotide Strands That Form a
Double Helix 279 Chapter 12 DNA Replication and
The Primary Structure of DNA 279 Recombination 321
Secondary Structures of DNA 281
TOPOISOMERASE, REPLICATION, AND CANCER 321
Connecting Concepts: Genetic Implications
of DNA Structure 284 12.1 Genetic Information Must Be Accurately Copied
Every Time a Cell Divides 322
10.4 Special Structures Can Form in DNA
12.2 All DNA Replication Takes Place in a
and RNA 285
Semiconservative Manner 322
Meselson and Stahl’s Experiment 323
Chapter 11 Chromosome Structure and
Modes of Replication 325
Transposable Elements 291 Requirements of Replication 328
Direction of Replication 329
JUMPING GENES IN ELONGATED TOMATOES 291
Connecting Concepts: The Direction of Replication
11.1 Large Amounts of DNA Are Packed
in Different Models of Replication 329
into a Cell 292
Supercoiling 292 12.3 Bacterial Replication Requires a Large Number
The Bacterial Chromosome 293 of Enzymes and Proteins 330
Eukaryotic Chromosomes 293 Initiation 330
Changes in Chromatin Structure 297 Unwinding 330