9780072992786 - Robert J. Brooker - Genetics-Analysis & Principles

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:: ROBERT J. BROOKER
UNIVERSITY OF MINNESOTA–MINNEAPOLIS
third edition
GENETICS
ANALYSIS & PRINCIPLES
GENETICS: ANALYSIS & PRINCIPLES, THIRD EDITION
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Library of Congress Cataloging-in-Publication Data
Brooker, Robert J.
Genetics : analysis & principles / Robert J. Brooker. — 3rd ed.
p. cm.
Includes bibliographical references and index.
ISBN 978–0–07–299278–6 — ISBN 0–07–299278–6 (hard copy : alk. paper) 1. Genetics. I. Title.
QH430.B766 2009
576.5--dc22
2007038523
www.mhhe.com
ABOUT THE AUTHOR
Robert J. Brooker is a Professor in the Department of
Genetics, Cell Biology, and Development at the University of
Minnesota–Minneapolis. He received his B.A. in Biology from
Wittenberg University in 1978 and his Ph.D. in Genetics from
Yale University in 1983. At Harvard, he conducted post-doctoral
studies on the lactose permease, which is the product of the lacY
gene of the lac operon. He continues his work on transporters at
the University of Minnesota. Dr. Brooker’s laboratory primarily
investigates the structure, function, and regulation of iron
transporters found in bacteria and C. elegans. At the University of
Minnesota, he teaches undergraduate courses in biology, genetics,
and cell biology.
DEDICATION
To my wife, Deborah, and our children,
Daniel, Nathan, and Sarah
iii
BRIEF CONTENTS
::
PART I INTRODUCTION
1 Overview of Genetics 1
PART II PATTERNS OF INHERITANCE
2 Mendelian Inheritance 17
3 Reproduction and Chromosome
Transmission 44
4 Extensions of Mendelian Inheritance 71
5 Linkage and Genetic Mapping
in Eukaryotes 100
6 Genetic Transfer and Mapping in Bacteria
and Bacteriophages 133
7 Non-Mendelian Inheritance 161
8 Variation in Chromosome Structure
and Number 187
PART III MOLECULAR STRUCTURE AND
REPLICATION OF THE GENETIC
MATERIAL
9 Molecular Structure of DNA and RNA 221
10 Chromosome Organization and Molecular
Structure 246
11 DNA Replication 270
PART IV MOLECULAR PROPERTIES
OF GENES
12 Gene Transcription and RNA Modification 297
13 Translation of mRNA 324
14 Gene Regulation in Bacteria
and Bacteriophages 360
15 Gene Regulation in Eukaryotes 389
16 Gene Mutation and DNA Repair 424
17 Recombination and Transposition
at the Molecular Level 455
PART V GENETIC TECHNOLOGIES
18 Recombinant DNA Technology 482
19 Biotechnology 514
20 Genomics I: Analysis of DNA 542
21 Genomics II: Functional Genomics, Proteomics,
and Bioinformatics 571
PART VI GENETIC ANALYSIS
OF INDIVIDUALS AND POPULATIONS
22 Medical Genetics and Cancer 599
23 Developmental Genetics 632
24 Population Genetics 665
25 Quantitative Genetics 697
iv
26 Evolutionary Genetics 727
TABLE OF CONTENTS
::
Preface
ix
A Visual Guide to Genetics: Analysis
and Principles xvi
1 OVERVIEW
PART I
INTRODUCTION 1
OF GENETICS 1
1.1 The Relationship Between Genes
and Traits 4
1.2 Fields of Genetics 10
PART II
PATTERNS OF INHERITANCE 17
2 MENDELIAN
INHERITANCE 17
2.1 Mendel’s Laws of Inheritance 18
Experiment 2A Mendel Followed the
Outcome of a Single Trait for Two
Generations 21
Experiment 2B Mendel Also Analyzed
Crosses Involving Two Different
Traits 25
2.2 Probability and Statistics 30
3 REPRODUCTION
AND
CHROMOSOME TRANSMISSION 44
3.1 General Features of
Chromosomes 44
3.2 Cell Division 48
3.3 Sexual Reproduction 54
3.4 The Chromosome Theory
of Inheritance and Sex
Chromosomes 60
Experiment 3A Morgan’s Experiments
Showed a Connection Between a
Genetic Trait and the Inheritance of a
Sex Chromosome in Drosophila 64
4 EXTENSIONS
OF MENDELIAN
INHERITANCE 71
4.1 Inheritance Patterns
of Single Genes 71
4.2 Gene Interactions 86
Experiment 4A Bridges Observed an
8:4:3:1 Ratio Because the Cream-Eye
Gene Can Modify the X-Linked Eosin
Allele but Not the Red or
White Alleles 89
5 LINKAGE
AND GENETIC MAPPING
IN EUKARYOTES 100
5.1 Linkage and Crossing Over 100
Experiment 5A Creighton and
McClintock Showed That Crossing
Over Produced New Combinations of
Alleles and Resulted in the Exchange
of Segments Between Homologous
Chromosomes 106
5.2 Genetic Mapping in Plants
and Animals 109
Experiment 5B Alfred Sturtevant Used
the Frequency of Crossing Over in
Dihybrid Crosses to Produce the First
Genetic Map 113
5.3 Genetic Mapping in Haploid
Eukaryotes 118
6 GENETIC
TRANSFER AND
MAPPING IN BACTERIA AND
BACTERIOPHAGES 133
6.1 Genetic Transfer and Mapping
in Bacteria 134
Experiment 6A Conjugation
Experiments Can Map Genes Along
the E. coli Chromosome 139
6.2 Intragenic Mapping in
Bacteriophages 148
7 NON-MENDELIAN
INHERITANCE 161
7.1 Maternal Effect 161
7.2 Epigenetic Inheritance 164
Experiment 7A In Adult Female
Mammals, One X Chromosome Has
Been Permanently Inactivated 166
7.3 Extranuclear Inheritance 174
v
vi
TABLE OF CONTENTS
8 VARIATION
IN CHROMOSOME
STRUCTURE AND NUMBER 187
8.1 Variation in Chromosome
Structure 187
Experiment 8A Comparative
Genomic Hybridization Is Used to
Detect Chromosome Deletions and
Duplications 193
8.2 Variation in Chromosome
Number 200
8.3 Natural and Experimental Ways to
Produce Variations in Chromosome
Number 207
PART III
MOLECULAR STRUCTURE AND
REPLICATION OF THE GENETIC
MATERIAL 221
9 MOLECULAR STRUCTURE OF DNA
AND RNA 221
9.1 Identification of DNA as the Genetic
Material 221
Experiment 9A Hershey and Chase
Provided Evidence That the Genetic
Material Injected into the Bacterial
Cytoplasm Is T2 Phage DNA 224
9.2 Nucleic Acid Structure 228
Experiment 9B Chargaff Found That
DNA Has a Biochemical Composition in
Which the Amount of A Equals T and
the Amount of G Equals C 231
10 CHROMOSOME
ORGANIZATION AND
MOLECULAR STRUCTURE 246
10.1 Viral Genomes 246
10.2 Bacterial Chromosomes 248
10.3 Eukaryotic Chromosomes 251
Experiment 10A The Repeating
Nucleosome Structure Is Revealed by
Digestion of the Linker Region 256
11 DNA
REPLICATION 270
11.1 Structural Overview of DNA
Replication 270
Experiment 11A Three Different Models
Were Proposed That Described the Net
Result of DNA Replication 272
11.2 Bacterial DNA Replication 274
Experiment 11B DNA Replication Can
Be Studied In Vitro 285
11.3 Eukaryotic DNA Replication 288
12 GENE
PART IV
MOLECULAR PROPERTIES
OF GENES 297
TRANSCRIPTION AND
RNA MODIFICATION 297
12.1 Overview of Transcription 298
12.2 Transcription in Bacteria 300
12.3 Transcription in Eukaryotes 305
12.4 RNA Modification 309
Experiment 12A Introns Were
Experimentally Identified Via
Microscopy 311
13 TRANSLATION
OF mRNA 324
13.1 The Genetic Basis for Protein
Synthesis 324
Experiment 13A Synthetic RNA Helped
to Decipher the Genetic Code 329
13.2 Structure and Function of tRNA 337
Experiment 13B tRNA Functions as the
Adaptor Molecule Involved in Codon
Recognition 339
13.3 Ribosome Structure and
Assembly 344
13.4 Stages of Translation 347
14 GENE
REGULATION
IN BACTERIA AND
BACTERIOPHAGES 360
14.1 Transcriptional Regulation 361
Experiment 14A The lacI Gene Encodes
a Diffusible Repressor Protein 366
14.2 Translational and Posttranslational
Regulation 376
14.3 Gene Regulation in the Bacteriophage
Reproductive Cycle 377
15 GENE
REGULATION IN
EUKARYOTES 389
15.1 Regulatory Transcription Factors 390
15.2 Changes in Chromatin Structure 397
Experiment 15A DNase I Sensitivity
Can Be Used to Study Changes in
Chromatin Compaction 398
15.3 Regulation of RNA Processing, RNA
Stability, and Translation 406
Experiment 15B Fire and Mello Show
That Double-Stranded RNA Is More
Potent Than Antisense RNA at Silencing
mRNA 412
TABLE OF CONTENTS
vii
16 GENE
MUTATION
AND DNA REPAIR 424
16.1 Consequences of Mutation 425
16.2 Occurrence and Causes of
Mutation 432
Experiment 16A X-Rays Were the First
Environmental Agent Shown to Cause
Induced Mutations 438
16.3 DNA Repair 443
17 RECOMBINATION
AND
TRANSPOSITION AT THE
MOLECULAR LEVEL 455
17.1 Homologous Recombination 455
Experiment 17A The Staining of
Harlequin Chromosomes Can Reveal
Recombination Between Sister
Chromatids 456
17.2 Site-Specific Recombination 464
17.3 Transposition 466
Experiment 17B McClintock Found That
Chromosomes of Corn Plants Contain
Loci That Can Move 466
PART V
GENETIC TECHNOLOGIES 482
18 RECOMBINANT
DNA
TECHNOLOGY 482
18.1 Gene Cloning 483
Experiment 18A In the First Gene
Cloning Experiment, Cohen, Chang,
Boyer, and Helling Inserted a
kanamycin R Gene into a Plasmid
Vector 488
18.2 Detection of Genes, Gene Products,
and Protein-DNA Interactions 497
18.3 Analysis and Alteration of DNA
Sequences 503
19 BIOTECHNOLOGY
514
19.1 The Uses of Microorganisms
in Biotechnology 514
Experiment 19A Somatostatin Was the
First Human Peptide Hormone Produced
by Recombinant Bacteria 515
19.2 Genetically Modified Animals 521
19.3 Genetically Modified Plants 531
19.4 Human Gene Therapy 535
20 GENOMICS
I: ANALYSIS
OF DNA 542
20.1 Cytogenetic and Linkage
Mapping 543
Experiment 20A RFLP Analysis Can
Be Used to Follow the Inheritance of
Disease-Causing Alleles 551
20.2 Physical Mapping 554
20.3 Genome Sequencing Projects 560
21 GENOMICS
II: FUNCTIONAL
GENOMICS, PROTEOMICS,
AND BIOINFORMATICS 571
21.1 Functional Genomics 571
Experiment 21A The Coordinate
Regulation of Many Genes Is Revealed
by a DNA Microarray Analysis 575
21.2 Proteomics 580
21.3 Bioinformatics 584
22 MEDICAL
PART VI
GENETIC ANALYSIS
OF INDIVIDUALS AND
POPULATIONS 599
GENETICS
AND CANCER 599
22.1 Genetic Analysis of Human
Diseases 600
22.2 Genetic Basis of Cancer 610
Experiment 22A DNA Isolated from
Malignant Mouse Cells Can Transform
Normal Mouse Cells into Malignant
Cells 612
23 DEVELOPMENTAL
GENETICS 632
23.1 Invertebrate Development 632
Experiment 23A Heterochronic
Mutations Disrupt the Timing of
Developmental Changes
in C. elegans 644
23.2 Vertebrate Development 647
23.3 Plant Development 650
23.4 Sex Determination in Animals
and Plants 654
24 POPULATION GENETICS 665
24.1 Genes in Populations, and the
Hardy-Weinberg Equation 665
24.2 Factors That Change Allele
and Genotype Frequencies in
Populations 670
Experiment 24A The Grants Have
Observed Natural Selection in
Galápagos Finches 681
24.3 Sources of New Genetic
Variation 684
25 QUANTITATIVE
GENETICS 697
25.1 Quantitative Traits 697