Concepts of genetics

2012·90.2 MB·English

by  Brooker, Robert J

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CONCEPTS OF GENETICS
Published by McGraw-Hill, a business unit of The McGraw-Hill Companies, Inc., 1221 Avenue of the Americas, New York,
NY 10020. Copyright © 2012 by The McGraw-Hill Companies, Inc. All rights reserved. No part of this publication may
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This book is printed on acid-free paper.
1 2 3 4 5 6 7 8 9 0 DOW/DOW 1 0 9 8 7 6 5 4 3 2 1
ISBN 978–0–07–352533–4
MHID 0–07–352533–2
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Library of Congress Cataloging-in-Publication Data
Brooker, Robert J.
Concepts of genetics / Robert J. Brooker. -- 1st ed.
p. cm.
Includes index.
ISBN 978–0–07–352533–4 — ISBN 0–07–352533–2 (hard copy : alk. paper) 1. Genetics. I. Title.
QH430.B764 2012
576.5--dc22
2010042316
www.mhhe.com

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B R I E F C O N T E N T S
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PART I PART IV
1 Overview of Genetics 1 14 Gene Transcription and RNA Modification 299
15 Translation of mRNA 324
PART II
16 Gene Regulation in Bacteria 355
2 Reproduction and Chromosome
Transmission 19 17 Gene Regulation in Eukaryotes 379
3 Mendelian Inheritance 40 18 Gene Mutation and DNA Repair 411
4 Sex Determination and Sex Chromosomes 71
PART V
5 Extensions of Mendelian Inheritance 88
19 Recombinant DNA Technology 443
6 Extranuclear Inheritance, Imprinting, and
20 Biotechnology 474
Maternal Effect 110
21 Genomics I: Analysis of DNA and Transposable
7 Genetic Linkage and Mapping
Elements 499
in Eukaryotes 129
22 Genomics II: Functional Genomics, Proteomics,
8 Variation in Chromosome Structure and
and Bioinformatics 531
Number 155
9 Genetics of Bacteria 185 PART VI
10 Genetics of Viruses 206 23 Medical Genetics and Cancer 551
24 Developmental Genetics and
PART III
Immunogenetics 585
11 Molecular Structure of DNA and RNA 225
25 Population Genetics 614
12 Molecular Structure and Organization of
26 Quantitative Genetics 646
Chromosomes 246
27 Evolutionary Genetics 672
13 DNA Replication and Recombination 268
iii
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T A B L E O F C O N T E N T S
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Preface viii 2.2 Cell Division 23 Experiment
2.3 Mitosis and Cytokinesis 26 Morgan’s Experiments Showed a
A Visual Guide to Concepts of
2.4 Meiosis 30 Connection Between a Genetic Trait and
Genetics xiv
2.5 Sexual Reproduction 34 the Inheritance of a Sex Chromosome in
Key Terms 37 Drosophila 79
Chapter Summary 37 Key Terms 83
Problem Sets & Insights 37 Chapter Summary 83
Problem Sets & Insights 84
3
5
 MENDELIAN INHERITANCE 40
 EXTENSIONS OF MENDELIAN
3.1 Mendel’s Study of Pea Plants 41 INHERITANCE 88
3.2 Law of Segregation 44
5.1 Overview of Simple Inheritance
Experiment
Patterns 88
PART I Mendel Followed the Outcome of a Single
5.2 Dominant and Recessive
Character for Two Generations 44
Alleles 90
1 INTRODUCTION 1 3.3 Law of Independent
5.3 Environmental Effects on Gene
Assortment 48
Expression 92
 OVERVIEW OF GENETICS 1 Experiment 5.4 Incomplete Dominance,
Mendel Also Analyzed Crosses Involving Overdominance, and
1.1 The Molecular Expression of
Two Different Characters 48 Codominance 94
Genes 4 3.4 Chromosome Theory of 5.5 Sex-Influenced and Sex-Limited
1.2 The Relationship between Genes
Inheritance 53 Inheritance 98
and Traits 7 3.5 Studying Inheritance Patterns in 5.6 Lethal Alleles 100
1.3 Fields of Genetics 12
Humans 56 5.7 Pleiotropy 101
Key Terms 16
3.6 Probability and Statistics 57 5.8 Gene Interactions 102
Chapter Summary 16
Key Terms 63 Key Terms 105
Problem Sets & Insights 16
Chapter Summary 63 Chapter Summary 105
Problem Sets & Insights 64 Problem Sets & Insights 106
4 6
 SEX DETERMINATION AND SEX  EXTRANUCLEAR INHERITANCE,
CHROMOSOMES 71 IMPRINTING, AND MATERNAL
EFFECT 110
4.1 Mechanisms of Sex Determination
Among Various Species 71 6.1 Extranuclear Inheritance:
4.2 Dosage Compensation and X Chloroplasts 110
Inactivation in Mammals 75 6.2 Extranuclear Inheritance:
PART II 4.3 Properties of the X and Y Mitochondria 114
Chromosome in Mammals 78 6.3 Theory of Endosymbiosis 116
2PATTERNS OF INHERITANCE 19 4.4 Transmission Patterns for X-Linked 6.4 Epigenetics: Imprinting 118
Genes 79 6.5 Maternal Effect 123
 REPRODUCTION Key Terms 125
AND CHROMOSOME Chapter Summary 125
TRANSMISSION 19
Problem Sets & Insights 126
2.1 General Features of
Chromosomes 19
iv
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TABLE OF CONTENTS v
7
9.4 Bacterial Transduction 196 11.6 Structure of the DNA Double
9.5 Bacterial Transformation 199 Helix 237
 GENETIC LINKAGE AND MAPPING Key Terms 201 11.7 RNA Structure 240
IN EUKARYOTES 129
Chapter Summary 201 Key Terms 242
7.1 Overview of Linkage 129 Problem Sets & Insights 201 Chapter Summary 242
7.2 Relationship Between Linkage and 10 Problem Sets & Insights 243
Crossing Over 131 12
7.3 Genetic Mapping in Plants and
 GENETICS OF VIRUSES 206
Animals 137
  MOLECULAR STRUCTURE
Experiment 10.1 Virus Structure and Genetic AND ORGANIZATION OF
Alfred Sturtevant Used the Frequency Composition 207 CHROMOSOMES 246
of Crossing Over in Dihybrid Crosses to 10.2 Viral Reproductive Cycles 209
Produce the First Genetic Map 140 10.3 Plaque Formation and 12.1 Organization of Sites Along
7.4 Mitotic Recombination 145 Intergenic Complementation in Bacterial Chromosomes 246
Key Terms 147 Bacteriophages 215 12.2 Structure of Bacterial
Chapter Summary 147 10.4 Intragenic Mapping in Chromosomes 247
Bacteriophages 218 12.3 Organization of Sites Along
Problem Sets & Insights 148
Key Terms 222 Eukaryotic Chromosomes 251
8 12.4 Sizes of Eukaryotic Genomes and
Chapter Summary 222
Repetitive Sequences 252
Problem Sets & Insights 223
 VARIATION IN CHROMOSOME 12.5 Structure of Eukaryotic
STRUCTURE AND NUMBER 155 Chromosomes in Nondividing
Cells 253
8.1 Microscopic Examination of
Experiment
Eukaryotic Chromosomes 155
8.2 Changes in Chromosome Structure: The Repeating Nucleosome Structure
Is Revealed by Digestion of the Linker
An Overview 158
Region 255
8.3 Deletions and Duplications 159
8.4 Inversions and Translocations 162 12.6 Structure of Eukaryotic
8.5 Changes in Chromosome Number: Chromosomes During Cell
Division 260
An Overview 168
Key Terms 264
8.6 Variation in the Number of
Chapter Summary 264
Chromosomes Within a Set: PART III
Problem Sets & Insights 265
Aneuploidy 169
8.7 Variation in the Number of Sets of MOLECULAR STRUCTURE AND 13
Chromosomes 171 REPLICATION OF THE GENETIC
8.8 Mechanisms That Produce Variation 11 MATERIAL 225   DNA REPLICATION AND
in Chromosome Number 174 RECOMBINATION 268
Key Terms 180
  MOLECULAR STRUCTURE OF
Chapter Summary 180 13.1 Structural Overview of DNA
DNA AND RNA 225
Problem Sets & Insights 181 Replication 268
9 11.1 Identification of DNA as the Experiment
Genetic Material 225 Three Different Models Were Proposed
That Described the Net Result of DNA
 GENETICS OF BACTERIA 185 Experiment
Replication 270
Hershey and Chase Provided Evidence
9.1 Overview of Genetic Transfer in That DNA Is the Genetic Material of T2 13.2 Bacterial DNA Replication: The
Bacteria 186 Phage 228 Formation of Two Replication Forks
9.2 Bacterial Conjugation 187 11.2 Overview of DNA and RNA at the Origin of Replication 272
9.3 Conjugation and Mapping via Hfr Structure 231 13.3 Bacterial DNA Replication:
Strains 191 11.3 Nucleotide Structure 232 Synthesis of New DNA
Experiment 11.4 Structure of a DNA Strand 233 Strands 275
Conjugation Experiments Can Map Genes 11.5 Discovery of the Double Helix 234
Along the E. coli Chromosome 193
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vi TABLE OF CONTENTS
13.4 Bacterial DNA Replication: 15.6 Stages of Translation 344 18.4 Induced Mutations 427
Chemistry and Accuracy 281 Key Terms 350 18.5 DNA Repair 430
13.5 Eukaryotic DNA Replication 283 Chapter Summary 350 Key Terms 438
13.6 Homologous Recombination 287 Problem Sets & Insights 351 Chapter Summary 438
Key Terms 293 16 Problem Sets & Insights 439
Chapter Summary 293
Problem Sets & Insights 294
  GENE REGULATION IN
BACTERIA 355
16.1 Overview of Transcriptional
Regulation 356
16.2 Regulation of the lac Operon 358
Experiment
The lacI Gene Encodes a Diffusible
Repressor Protein 360
16.3 Regulation of the trp Operon 367
16.4 Translational and Posttranslational
Regulation 371
PART IV 16.5 Riboswitches 373 PART V
Key Terms 375
MOLECULAR PROPERTIES Chapter Summary 375 1GE9NETIC TECHNOLOGIES 443
14 OF GENES 299 Problem Sets & Insights 375
  RECOMBINANT DNA
17
TECHNOLOGY 443
  GENE TRANSCRIPTION AND
RNA MODIFICATION 299   GENE REGULATION IN 19.1 Gene Cloning Using Vectors 444
EUKARYOTES 379 19.2 Polymerase Chain Reaction 450
14.1 Overview of Transcription 300
19.3 DNA Libraries and Blotting
14.2 Transcription in Bacteria 302 17.1 Regulatory Transcription
Methods 455
14.3 Transcription in Eukaryotes 307 Factors 380 19.4 Methods for Analyzing DNA- and
14.4 RNA Modification 312 17.2 Chromatin Remodeling,
RNA-Binding Proteins 462
Key Terms 319 Histone Variation, and Histone 19.5 DNA Sequencing and Site-Directed
Chapter Summary 319 Modification 386
Mutagenesis 464
Problem Sets & Insights 320 17.3 DNA Methylation 391
Key Terms 467
15 17.4 Insulators 394 Chapter Summary 468
17.5 Regulation of RNA Processing, RNA
Problem Sets & Insights 468
Stability, and Translation 396
 TRANSLATION OF mRNA 324 20
Experiment
15.1 The Genetic Basis for Protein Fire and Mello Show That Double-Stranded
 BIOTECHNOLOGY 474
Synthesis 324 RNA Is More Potent Than Antisense RNA
15.2 The Relationship Between at Silencing mRNA 400
20.1 Uses of Microorganisms in
the Genetic Code and Protein Key Terms 405
Biotechnology 474
Synthesis 327 Chapter Summary 405
20.2 Genetically Modified Animals 477
15.3 Experimental Determination of the Problem Sets & Insights 406 20.3 Reproductive Cloning and Stem
Genetic Code 333
18 Cells 483
Experiment 20.4 Genetically Modified Plants 488
Synthetic RNA Helped to Determine the   GENE MUTATION AND DNA 20.5 Human Gene Therapy 491
Genetic Code 334
REPAIR 411
Experiment
15.4 Structure and Function of
Adenosine Deaminase Deficiency Was the
tRNA 338 18.1 Effects of Mutations on Gene
First Inherited Disease Treated with Gene
15.5 Ribosome Structure and Structure and Function 412
Therapy 492
Assembly 341 18.2 Random Nature of Mutations 418
Key Terms 495
18.3 Spontaneous Mutations 421
Chapter Summary 496
Problem Sets & Insights 496
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TABLE OF CONTENTS vii
21
23.3 Prions 563 Experiment
23.4 Genetic Basis of Cancer 565 Heritability of Dermal Ridge Count in
  GENOMICS I: ANALYSIS OF
Key Terms 578 Human Fingerprints Is Very High 659
DNA AND TRANSPOSABLE
ELEMENTS 499 Chapter Summary 578 26.5 Selective Breeding 663
Problem Sets & Insights 579 Key Terms 666
21.1 Overview of Chromosome 24 Chapter Summary 666
Mapping 500 Problem Sets & Insights 667
21.2 Cytogenetic Mapping via
  DEVELOPMENTAL GENETICS 27
Microscopy 501
AND IMMUNOGENETICS 585
21.3 Linkage Mapping via Crosses 503
21.4 Physical Mapping via Cloning 507 24.1 Overview of Animal   EGVEONELUTITCISO N6A7R2Y
21.5 Genome-Sequencing Projects 512 Development 586
21.6 Transposition 517 24.2 Invertebrate Development 589 27.1 Origin of Species 673
Key Terms 525 24.3 Vertebrate Development 599 27.2 Phylogenetic Trees 679
Chapter Summary 526 24.4 Plant Development 602 27.3 Molecular Evolution and Molecular
Problem Sets & Insights 526 24.5 Immunogenetics 605 Clocks 686
22 Key Terms 608 27.4 Evo-Devo: Evolutionary
Chapter Summary 608 Developmental Biology 692
Problem Sets & Insights 609 Key Terms 696
  GENOMICS II: FUNCTIONAL
GENOMICS, PROTEOMICS, 25 Chapter Summary 696
AND BIOINFORMATICS 531 Problem Sets & Insights 697
 POPULATION GENETICS 614
22.1 Functional Genomics 532
22.2 Proteomics 535 25.1 Genes in Populations and the Appendix A
22.3 Bioinformatics 540 Experimental Techniques A-1
Hardy-Weinberg Equation 614
Key Terms 547 25.2 Overview of Microevolution 619 Appendix B
Chapter Summary 547 25.3 Natural Selection 620 Solutions to Concept Checks
Problem Sets & Insights 548
and Even-Numbered Problems A-7
Experiment
The Grants Have Observed Natural Glossary G-1
Selection in Galápagos Finches 626
25.4 Genetic Drift 628 Credits C-1
25.5 Migration 630 Index I-1
25.6 Nonrandom Mating 631
25.7 Sources of New Genetic
Variation 633
Key Terms 638
Chapter Summary 638
Problem Sets & Insights 639
26
PART VI
GENETIC ANALYSIS   QUANTITATIVE
GENETICS 646
OF INDIVIDUALS AND
23POPULATIONS 551 26.1 Overview of Quantitative
Traits 646
  MEDICAL GENETICS AND 26.2 Statistical Methods for Evaluating
CANCER 551 Quantitative Traits 648
26.3 Polygenic Inheritance 651
23.1 Inheritance Patterns of Genetic 26.4 Heritability 656
Diseases 552
23.2 Detection of Disease-Causing
Alleles 558
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P R E F A C E
::
Based on our discussions with instructors from many institutions, mary, which allows students to connect the concepts that
I have learned that most instructors want a broad textbook that were learned in each section.
clearly explains concepts in a way that is interesting, accurate, (cid:129) Connecting molecular genetics and traits It is commonly
concise, and up-to-date. Concepts of Genetics has been written to mentioned that students often have trouble connecting the
achieve these goals. It is intended for students who want to gain concepts they have learned in molecular genetics with the
a conceptual grasp of the various fields of genetics. The content traits that occur at the level of a whole organism (i.e., What
reflects current trends in genetics and the pedagogy is based on does transcription have to do with blue eyes?). To try to
educational research. In particular, a large amount of formative make this connection more meaningful, certain figure leg-
assessment is woven into the content. As an author, researcher, ends in each chapter, designated Genes→Traits, remind stu-
and teacher, I want a textbook that gets students actively involved dents that molecular and cellular phenomena ultimately lead
in learning genetics. To achieve this goal, I have worked with a to the traits that are observed in each species.
talented team of editors, illustrators, and media specialists who (cid:129) Interactive exercises Working with education specialists,
have helped me to make the first edition of Concepts of Genetics a the author has crafted interactive exercises in which the stu-
fun learning tool. The features that we feel are most appealing to dents can make their own choices in problem-solving activi-
students are the following. ties and predict what the outcomes will be. Many of these
exercises are focused on inheritance patterns and human
(cid:129) Formative assessment Perhaps the most difficult challenge genetic diseases. (For example, see Chapters 5 and 23.) In
for each student is to figure out what it is they don’t know addition, we have many interactive exercises
or don’t fully understand. Formative assessment is often a for the molecular chapters. These types of
self-reflective process in which a student answers questions exercises engage students in the learning
and the feedback from those questions allows her or him to process. The interactive exercises are found
recognize the status of their learning. When it works well, online and the corresponding material in the chapter is indi-
it helps to guide a student through the learning process. In cated with an Interactive Exercise icon.
Concepts of Genetics, a student is given formative assessment (cid:129) Animations Our media specialists have created over 50 ani-
in multiple ways. First, most of the figure legends contain mations for a variety of genetic processes. These animations
“Concept check” questions that test a student’s understand- were made specifically for this textbook and
ing of the material. The answers to these questions are use the art from the textbook. The anima-
provided in the back of the book, so the student can imme- tions literally make many of the figures in the
diately determine if their own answer is correct. Second, the textbook “come to life.” The animations are
end of each section of each chapter contains multiple choice found online and the corresponding material in the chapter
questions that test the broader concepts that were described is indicated with an Online Animation icon.
in that section. The answers are at the end of the chapter, (cid:129) Experiments Many chapters have an experiment that is
which allows for immediate feedback for the student. Third, presented according to the scientific method. These experi-
a rigorous set of problems is provided at the end of each ments are not “boxed off” from the rest of the chapter.
chapter. These problem sets are divided into Conceptual Rather, they are integrated within the chapters and flow
questions, Application and Experimental questions, and with the rest of the text. As you are reading the experiments,
Questions for Student Discussion/Collaboration. you will simultaneously explore the scientific method and
(cid:129) Chapter organization In genetics, it is sometimes easy to the genetic principles that have been discovered using this
“lose the forest for the trees.” Genetics is often times a dense approach. For students, I hope this textbook helps you to see
subject. To circumvent this difficulty, the content in Con- the fundamental connection between scientific analysis and
cepts of Genetics has been organized to foster a better appre- principles. For both students and instructors, I expect that
ciation for the big picture of genetic principles. The chapters this strategy makes genetics much more fun to explore.
are divided into several sections, and each section ends with (cid:129) Art A large proportion of a student’s efforts is aimed at
a summary that touches on the main points. As mentioned, studying figures. As described later in this preface, the art is
multiple choice questions at the end of each section are also clearly a strength of this textbook. Most of the work in pro-
intended to help students grasp the broader concepts in ducing this book has gone into the development of the art. It
genetics. Finally, the end of each chapter contains a sum- is designed to be complete, clear, consistent, and realistic.
viii
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