(eBook PDF) Principles of Genetics, 7th

Edition
Visit to download the full and correct content document:
https://ebooksecure.com/download/ebook-pdf-principles-of-genetics-7th-edition/
 r
Section Summary. The content of each major section of text is briefly summarized
at the beginning of that section. These opening summaries focus attention on the
main ideas developed in a chapter.
r
Key Points. These learning aids appear at the end of each major section in a chap-
ter. They are designed to help students review for exams and to recapitulate the
main ideas of the chapter.
r
Problem-Solving Skills Boxes. Each chapter contains a box that guides the student
through the analysis and solution of a representative problem. We have chosen a
problem that involves important material in the chapter. The box lists the facts
and concepts that are relevant to the problem, and then explains how to obtain the
solution. Ramifications of the problem and its analysis are discussed in the Student
Companion site.
r
Solve It Boxes. Each of these boxes poses a problem related to concepts students
encounter as they read the text. The step-by-step solution to each of the prob-
lems is presented in the Student Companion site and within WileyPLUS, and for
selected problems, it is presented in video format. The two Solve It boxes in each
chapter allow students to test their understanding of key concepts.
r
Basic Exercises. At the end of each chapter we present several worked-out problems
to reinforce each of the fundamental concepts developed in the chapter. These
simple, one-step exercises are designed to illustrate basic genetic analysis or to
emphasize important information.
r
Testing Your Knowledge. Each chapter also has more complicated worked-out
problems to help students hone their analytical and problem-solving skills. The
problems in this section are designed to integrate different concepts and tech-
niques. In the analysis of each problem, we walk the students through the solution
step by step.
r
Questions and Problems. Each chapter ends with a set of questions and problems of
varying difficulty organized according to the sequence of topics in the chapter. The
more difficult questions and problems have been designated with colored numbers.
These sets of questions and problems provide students with the opportunity to
enhance their understanding of the concepts covered in the chapter and to develop
their analytical skills. Also, some of the questions and problems—called GO prob-
lems—have been selected for interactive solutions on the Student Companion site
and within WileyPLUS. The GO problems are designated with a special icon.
r
Genomics on the Web. Information about genomes, genes, DNA sequences,
mutant organisms, polypeptide sequences, biochemical pathways, and evolution-
ary relationships is now freely available on an assortment of web sites. Researchers
routinely access this information, and we believe that students should become
familiar with it. To this end, we have incorporated a set of questions at the end of
each chapter that can be answered by using the National Center for Biotechnology
Information (NCBI) web site, which is sponsored by the U. S. National Institutes
of Health.
r
Appendices. These features, found on the Student Companion site, present techni-
cal material that is useful in genetic analysis.
r
Glossary. This section of the book defines important terms. Students find it useful
in clarifying topics and in preparing for exams.
r
Answers. Answers to the odd-numbered Questions and Problems are given at the
end of the text.

vi

FM.indd 6 9/10/2015 7:38:05 PM

 TEST BANK
ONLINE RESOURCES
The test bank is available on both the Instructor Companion
site and within WileyPLUS. The test bank contains approxi-
mately 50 test questions per chapter. It is available online as
WileyPLUS is a research-based online environment for MS Word files and as a computerized test bank. This easy-
effective teaching and learning. to-use test-generation program fully supports graphics, print
WileyPLUS builds students’ confidence because it takes tests, student answer sheets, and answer keys. The software’s
the guesswork out of studying by providing students with a advanced features allow you to produce an exam to your exact
clear roadmap: what to do, how to do it, if they did it right. specifications.
This interactive approach focuses on the following:
Confidence: Research shows that students experience a LECTURE POWERPOINT PRESENTATIONS
great deal of anxiety over studying. That’s why we pro-
vide a structured learning environment that helps stu- Highly visual lecture PowerPoint presentations are available
dents focus on what to do, along with the support of for each chapter and help convey key concepts illustrated by
immediate resources. imbedded text art. The presentations may be accessed on the
Instructor Companion site and within WileyPLUS.
Motivation: To increase and sustain motivation through-
out the semester, WileyPLUS helps students learn how
to do it at a pace that’s right for them. Our integrated PRE AND POSTLECTURE ASSESSMENT
resources—available 24/7—function like a personal tutor,
directly addressing each student’s demonstrated needs This assessment tool allows instructors to assign a quiz prior to
with specific problem-solving techniques. lecture to assess student understanding and encourage reading,
Success: WileyPLUS helps to assure that each study ses- and following lecture to gauge improvement and weak areas.
sion has a positive outcome by putting students in con- Two quizzes are provided for every chapter.
trol. Through instant feedback and study objective
reports, students know if they did it right and where to
focus next, so they achieve the strongest result.
PERSONAL RESPONSE SYSTEM
QUESTIONS
With WileyPLUS, our efficacy research shows that students
These questions are designed to provide readymade pop quizzes
improve their outcomes by as much as one letter grade. WileyPLUS
and to foster student discussion and debate in class. Available on
helps students take more initiative, so you’ll have greater impact
the Instructor Companion site and within WileyPLUS.
on their achievement in the classroom and beyond.
What do students receive with WileyPLUS?
PRACTICE QUIZZES
r The complete digital textbook, saving students up to 60%
off the cost of a printed text. Available on the Student Companion site and within
WileyPLUS, these quizzes contain 20 questions per chapter
r Interactive problem sets with question assistance, including for students to quiz themselves and receive instant feedback.
links to relevant sections in the online digital textbook.
r Immediate feedback and proof of progress, 24/7.
MILESTONES IN GENETICS
r Integrated, multimedia resources—including animations,
video solutions, GO tutorial problems, and much more— The Milestones are available on the Student Companion site
that provide multiple study paths and encourage more and within WileyPLUS. Each of them explores a key devel-
active learning. opment in genetics—usually an experiment or a discovery.
We cite the original papers that pertain to the subject of
What do instructors receive with WileyPLUS? the Milestone, and we include two Questions for Discussion
r Reliable resources that reinforce course goals inside and to provide students with an opportunity to investigate the
outside the classroom. current significance of the subject. These questions are suit-
able for cooperative learning activities in the classroom, or
r The ability to easily identify those students who are falling for reflective writing exercises that go beyond the technical
behind. aspects of genetic analysis.
r Media-rich course materials and assessment content
including—Instructor’s Manual, Test Bank, PowerPoint®
FOCUS ON
Slides, Learning Objectives, Solutions Manual, Study
Guide, Computerized Test Bank, Pre- and Post-Lecture Special topics are presented in separate Focus On features on the
Quizzes, and much more. Student Companion site and within WileyPLUS. The material
in these features supports or develops concepts, techniques, or
www. wileyplus.com skills that have been introduced in the printed text.

vii

FM.indd 7 9/10/2015 7:38:06 PM

 SOLVE IT ILLUSTRATIONS AND PHOTOS
Solve It boxes provide students with opportunities to test their All line illustrations and photos from Principles of Genetics, 7th
understanding of concepts as they encounter them in the text. Edition, are available on the Instructor Companion site and
Each chapter poses two Solve It problems; step-by-step explana- within WileyPLUS in both jpeg files and PowerPoint format.
tions of the answers are presented on the book’s web site and Line illustrations are enhanced to provide the best presentation
within WileyPLUS, some in video format. Students can view experience.
Camtasia videos, prepared by Dubear Kroening at the University
of Wisconsin-Fox Valley. These tutorials enhance interactivity
and hone problem-solving skills to give students the confidence
BOOK COMPANION WEB SITE
they need to tackle complex problems in genetics. (www.wiley.com/college/snustad)
This text-specific web site provides students with additional
resources and extends the chapters of the text to the resources
ANIMATIONS
of the World Wide Web. Resources include:
Located within WileyPLUS, these animations illustrate key r For Students: practice quizzes covering key concepts
concepts from the text and aid students in grasping some of the for each chapter of the text, flashcards, and the Biology
most difficult concepts in genetics. Also included are animations NewsFinder.
that will give students a refresher in basic biology.
r For Instructors: Test Bank, PowerPoint Presentations,
line art and photos in jpeg and PowerPoint formats, per-
ANSWERS TO QUESTIONS AND PROBLEMS sonal response system questions, and all answers to end-of-
chapter Questions and Problems.
Answers to odd-numbered Questions and Problems are located
at the end of the text for easy access for students. Answers to all
Questions and Problems in the text are available only to instruc-
tors on the Instructor Companion site and within WileyPLUS.

viii

FM.indd 8 9/10/2015 7:38:06 PM

 of Michigan; Harald Vaessin, The Ohio State University –
Acknowledgments Columbus; Sarah VanVickle-Chavez, Washington University
in St. Louis; Willem Vermerris, University of Florida; Alan S.
As with previous editions, this edition of Principles of Genetics has Waldman, University of South Carolina – Columbia
been influenced by the genetics courses we teach. We thank our Many people contributed to the development and produc-
students for their constructive feedback on both content and peda- tion of this edition. Kevin Witt, Director, and Bonnie Roth,
gogy, and we thank our colleagues at the University of Minnesota Senior Acquisitions Editor, initiated the project, and the inaugural
for sharing their knowledge and expertise. Genetics professors at editorial team of Marian Provenzano, Brian Baker, and Christina
other institutions also provided many helpful suggestions. In par- Volpe helped to get it underway. Gladys Soto, Production
ticular, we acknowledge the help of the following reviewers: Manager, Marcus Van Harpen, Project Specialist, Janet Wehner,
Development Editor, Swathi Chandrasekar, Production Editor,
7 TH EDITION REVIEWERS and Carolyn Thompson, Editorial Assistant, worked diligently
and thoughtfully to bring the project to completion. Along
Gregory C. Booton, The Ohio State University; Kathleen the way, they enlisted the efforts of SPi-Global who did the
Fitzpatrick, Simon Fraser University; David W. Foltz, Louisiana copyediting, proofreading, and prepared the index. Mary Ann
State University; Elliott S. Goldstein, Arizona State University; Price, Senior Photo Editor, obtained several new images for this
Andrew Zelhof, Indiana University; Jianzhi Zhang, University edition, Elizabeth Swain, Production Editor, helped by provid-
of Michigan ing archived material from previous editions, and Clay Stone,
Executive Marketing Manager, developed a plan to get this edi-
tion into the hands of readers. Many thanks to all these people
REVIEWERS OF PREVIOUS EDITIONS
for their ideas and their help.
Ann Aguano, Manhattan Marymount College; Mary A. Bedell, D. Peter Snustad, the lead author of Principles of Genetics for
University of Georgia; Michelle Boissere, Xavier University so many years, was too ill to contribute directly to this edition;
of Louisiana; Stephen P. Bush, Coastal Carolina University; he passed away while it was being written. However, the book
Jonathan Clark, Weber State University; Sarah Crawford, still contains much that is Pete’s—carefully researched content,
Southern Connecticut State University; Robert Fowler, San Jose thoughtfully designed illustrations, and intriguing questions
State University; Cheryl Hertz, Loyola Marymount University; and problems that could only have been crafted by an accom-
Shawn Kaeppler, University of Wisconsin; Todd Kelson, plished geneticist and esteemed teacher. There is no doubt that
Brigham Young University – Idaho; Xiongbin Lu, University the richness of Pete’s legacy will continue to be appreciated by
of South Carolina – Columbia; Richard D. Noyes, University all who use this textbook.
of Central Arkansas; Maria E. Orive, University of Kansas; With an eye toward the next edition, students, teaching
Rongsun Pu, Kean University Valery N. Soyfer, George Mason assistants, instructors, and other readers may send comments
University; David Starkey, University of Central Arkansas; on this edition to John Wiley & Sons, Inc., 111 River Street,
Frans Tax, University of Arizona; Tzvi Tzfira, University Hoboken, NJ, 07030.

ix

FM.indd 9 9/10/2015 7:38:06 PM

FM.indd 10 9/10/2015 7:38:06 PM
 Contents

CHAPTER 1 SOLVE IT How Much DNA in Human Meiotic Cells 27

MEIOSIS II AND THE OUTCOMES OF MEIOSIS 31
SOLVE IT How Many Chromosome Combinations
The Science of Genetics 1 in Sperm 31
The Personal Genome 1
Life Cycles of Some Model Genetic
An Invitation 2
Organisms 32
Three Great Milestones in Genetics 2 SACCHAROMYCES CEREVISIAE, BAKER’S YEAST 32
MENDEL: GENES AND THE RULES OF INHERITANCE 2 ARABIDOPSIS THALIANA, A FLOWERING PLANT 33
WATSON AND CRICK: THE STRUCTURE OF DNA 3 MUS MUSCULUS, THE MOUSE 34
THE HUMAN GENOME PROJECT: SEQUENCING DNA PROBLEMSOLVING SKILLS Counting
AND CATALOGING GENES 4
Chromosomes and Chromatids 36
DNA as the Genetic Material 6
DNA REPLICATION: PROPAGATING GENETIC INFORMATION 6
GENE EXPRESSION: USING GENETIC INFORMATION 7
MUTATION: CHANGING GENETIC INFORMATION 9 CHAPTER 3
Genetics and Evolution 10
Levels of Genetic Analysis 11
Mendelism: The Basic Principles
CLASSICAL GENETICS 11 of Inheritance 40
MOLECULAR GENETICS 11 The Birth of Genetics: A Scientific Revolution 40
POPULATION GENETICS 12 Mendel’s Study of Heredity 41
Genetics in the World: Applications of Genetics MENDEL’S EXPERIMENTAL ORGANISM, THE GARDEN PEA 41
to Human Endeavors 12 MONOHYBRID CROSSES: THE PRINCIPLES OF DOMINANCE
AND SEGREGATION 42
GENETICS IN AGRICULTURE 12
DIHYBRID CROSSES: THE PRINCIPLE OF INDEPENDENT
GENETICS IN MEDICINE 14 ASSORTMENT 44
GENETICS IN SOCIETY 15
Applications of Mendel’s Principles 46
THE PUNNETT SQUARE METHOD 46
THE FORKEDLINE METHOD 46
CHAPTER 2 THE PROBABILITY METHOD 47
SOLVE IT Using Probabilities in a
Cellular Reproduction 18 Genetic Problem 48
Dolly 18 Testing Genetic Hypotheses 48
Cells and Chromosomes 19 TWO EXAMPLES: DATA FROM MENDEL AND DEVRIES 49
THE CELLULAR ENVIRONMENT 19 THE CHISQUARE TEST 49
PROKARYOTIC AND EUKARYOTIC CELLS 20 SOLVE IT Using the Chi-Square Test 52
CHROMOSOMES: WHERE GENES ARE LOCATED 20
CELL DIVISION 23
Mendelian Principles in Human Genetics 52
PEDIGREES 53
Mitosis 24 MENDELIAN SEGREGATION IN HUMAN FAMILIES 54
Meiosis 27 GENETIC COUNSELING 54
MEIOSIS: AN OVERVIEW 27 PROBLEMSOLVING SKILLS Making Predictions
MEIOSIS I 27 from Pedigrees 56

xi

FM.indd 11 9/10/2015 7:38:06 PM

 THE CHROMOSOMAL BASIS OF MENDEL’S PRINCIPLES
CHAPTER 4 OF SEGREGATION AND INDEPENDENT ASSORTMENT 94
SOLVE IT Sex Chromosome Nondisjunction 94
Extensions of Mendelism 62 PROBLEMSOLVING SKILLS Tracking X-Linked
Genetics Grows beyond Mendel’s Monastery and Autosomal Inheritance 96
Garden 62
Sex-Linked Genes in Humans 97
Allelic Variation and Gene Function 63
HEMOPHILIA, AN XLINKED BLOODCLOTTING DISORDER 97
INCOMPLETE DOMINANCE AND CODOMINANCE 63
COLOR BLINDNESS, AN XLINKED VISION DISORDER 97
MULTIPLE ALLELES 64
GENES ON THE HUMAN Y CHROMOSOME 99
ALLELIC SERIES 65
GENES ON BOTH THE X AND Y CHROMOSOMES 99
TESTING GENE MUTATIONS FOR ALLELISM 65
SOLVE IT Calculating the Risk for Hemophilia 99
SOLVE IT The Test for Allelism 66
VARIATION AMONG THE EFFECTS OF MUTATIONS 66
Sex Chromosomes and Sex Determination 99
GENES FUNCTION TO PRODUCE POLYPEPTIDES 67 SEX DETERMINATION IN HUMANS 100
WHY ARE SOME MUTATIONS DOMINANT SEX DETERMINATION IN DROSOPHILA 101
AND OTHERS RECESSIVE? 68 SEX DETERMINATION IN OTHER ANIMALS 101
Gene Action: From Genotype to Phenotype 69 Dosage Compensation of X-Linked Genes 103
INFLUENCE OF THE ENVIRONMENT 69 HYPERACTIVATION OF XLINKED GENES IN MALE
ENVIRONMENTAL EFFECTS ON THE EXPRESSION DROSOPHILA 103
OF HUMAN GENES 70 INACTIVATION OF XLINKED GENES IN FEMALE
PENETRANCE AND EXPRESSIVITY 70 MAMMALS 103
GENE INTERACTIONS 71
EPISTASIS 71
EPISTASIS AND GENETIC PATHWAYS 72
PLEIOTROPY 74
CHAPTER 6
PROBLEMSOLVING SKILLS Going from Pathways
to Phenotypic Ratios 75 Variation in Chromosome
Inbreeding: Another Look at Pedigrees 76 Number and Structure 109
THE EFFECTS OF INBREEDING 76
Chromosomes, Agriculture, and Civilization 109
GENETIC ANALYSIS OF INBREEDING 77 Cytological Techniques 110
USES OF THE INBREEDING COEFFICIENT 80 ANALYSIS OF MITOTIC CHROMOSOMES 110
SOLVE IT Compound Inbreeding 80 THE HUMAN KARYOTYPE 112
MEASURING GENETIC RELATIONSHIPS 81 CYTOGENETIC VARIATION: AN OVERVIEW 113
Polyploidy 114
STERILE POLYPLOIDS 114
CHAPTER 5 FERTILE POLYPLOIDS 115
TISSUESPECIFIC POLYPLOIDY AND POLYTENY 116

The Chromosomal Basis SOLVE IT Chromosome Pairing in Polyploids 116

of Mendelism 88 Aneuploidy 118

Sex, Chromosomes, and Genes 88 TRISOMY IN HUMANS 119
MONOSOMY 120
Chromosomes 89
PROBLEMSOLVING SKILLS Tracing Sex
CHROMOSOME NUMBER 89
Chromosome Nondisjunction 122
SEX CHROMOSOMES 89
DELETIONS AND DUPLICATIONS OF CHROMOSOME
The Chromosome Theory of Heredity 91 SEGMENTS 122
EXPERIMENTAL EVIDENCE LINKING THE INHERITANCE Rearrangements of Chromosome
OF GENES TO CHROMOSOMES 91
Structure 124
NONDISJUNCTION AS PROOF OF THE CHROMOSOME
THEORY 92 INVERSIONS 124

xii

FM.indd 12 9/10/2015 7:38:06 PM

 TRANSLOCATIONS 125
COMPOUND CHROMOSOMES AND ROBERTSONIAN
CHAPTER 8
TRANSLOCATIONS 126
SOLVE IT Pollen Abortion in Translocation The Genetics of Bacteria
Heterozygotes 127 and Their Viruses 161
Multi-Drug-Resistant Bacteria: A Ticking
Timebomb? 161
Viruses and Bacteria in Genetics 162
CHAPTER 7
The Genetics of Viruses 163
Linkage, Crossing BACTERIOPHAGE T4 163
BACTERIOPHAGE LAMBDA 164
Over, and Chromosome The Genetics of Bacteria 167
Mapping in Eukaryotes 133 MUTANT GENES IN BACTERIA 168
The World’s First Chromosome Map 133 UNIDIRECTIONAL GENE TRANSFER IN BACTERIA 169
Linkage, Recombination, and Mechanisms of Genetic Exchange
Crossing Over 134 in Bacteria 170
EARLY EVIDENCE FOR LINKAGE AND RECOMBINATION 134
TRANSFORMATION 171
CROSSING OVER AS THE PHYSICAL BASIS
MECHANISM OF TRANSFORMATION 172
OF RECOMBINATION 136
CONJUGATION 173
EVIDENCE THAT CROSSING OVER CAUSES
RECOMBINATION 137 USING CONJUGATION TO MAP E. COLI GENES 175
CHIASMATA AND THE TIME OF CROSSING OVER 138 PLASMIDS AND EPISOMES 177

Chromosome Mapping 139 PROBLEMSOLVING SKILLS Mapping Genes Using

Conjugation Data 178
CROSSING OVER AS A MEASURE OF GENETIC
DISTANCE 139 F FACTORS AND SEXDUCTION 179

RECOMBINATION MAPPING WITH A TWOPOINT TRANSDUCTION 180

TESTCROSS 140 SOLVE IT How Can You Map Closely Linked Genes
RECOMBINATION MAPPING WITH A THREEPOINT Using Partial Diploids? 181
TESTCROSS 140 EVOLUTIONARY SIGNIFICANCE OF GENETIC EXCHANGE
SOLVE IT Mapping Two Genes with Testcross IN BACTERIA 183
Data 141 SOLVE IT How Do Bacterial Genomes Evolve? 183
PROBLEMSOLVING SKILLS Using a
Genetic Map to Predict the Outcome of a
Cross 144
RECOMBINATION FREQUENCY AND GENETIC MAP
CHAPTER 9
DISTANCE 144

Cytogenetic Mapping 146 DNA and the Molecular Structure

LOCALIZING GENES USING DELETIONS AND of Chromosomes 189
DUPLICATIONS 146 Discovery of Nuclein 189
GENETIC DISTANCE AND PHYSICAL DISTANCE 147
Proof That Genetic Information Is Stored
SOLVE IT Cytological Mapping of a Drosophila
in DNA and RNA 190
Gene 148
PROOF THAT DNA MEDIATES TRANSFORMATION 190
Linkage Analysis in Humans 148 PROOF THAT DNA CARRIES THE GENETIC INFORMATION
AN EXAMPLE: LINKAGE BETWEEN BLOOD GROUPS IN BACTERIOPHAGE T2 191
AND THE NAILPATELLA SYNDROME 149 PROOF THAT RNA STORES THE GENETIC INFORMATION
DETECTING LINKAGE WITH MOLECULAR MARKERS 150 IN SOME VIRUSES 193

Recombination and Evolution 151 The Structures of DNA and RNA 194
EVOLUTIONARY SIGNIFICANCE OF RECOMBINATION 151 NATURE OF THE CHEMICAL SUBUNITS IN DNA AND RNA 194
SUPPRESSION OF RECOMBINATION BY INVERSIONS 152 DNA STRUCTURE: THE DOUBLE HELIX 195

xiii

FM.indd 13 9/10/2015 7:38:06 PM

 PROBLEMSOLVING SKILLS Calculating base UNWINDING DNA WITH HELICASES, DNABINDING PROTEINS,
Content in DNA 199 AND TOPOISOMERASES 232

DNA STRUCTURE: ALTERNATE FORMS OF THE DOUBLE MULTIPLE DNA POLYMERASES 235
HELIX 199 PROOFREADING 237
SOLVE IT What Are Some Important Features THE PRIMOSOME AND THE REPLISOME 238
of Double-Stranded DNA? 200 ROLLINGCIRCLE REPLICATION 240
DNA STRUCTURE: NEGATIVE SUPERCOILS IN VIVO 200 Unique Aspects of Eukaryotic Chromosome
Chromosome Structure in Viruses and Replication 241
Prokaryotes 201 THE CELL CYCLE 241
MULTIPLE REPLICONS PER CHROMOSOME 241
Chromosome Structure in Eukaryotes 203
TWO OR MORE DNA POLYMERASES AT A SINGLE REPLICATION
CHEMICAL COMPOSITION OF EUKARYOTIC FORK 242
CHROMOSOMES 203
SOLVE IT Understanding Replication of the Human
ONE LARGE DNA MOLECULE PER CHROMOSOME 204
X Chromosome 243
NUCLEOSOMES 205
DUPLICATION OF NUCLEOSOMES AT REPLICATION FORKS 243
PACKAGING OF CHROMATIN IN EUKARYOTIC
TELOMERASE: REPLICATION OF CHROMOSOME TERMINI 244
CHROMOSOMES 207
TELOMERE LENGTH AND AGING IN HUMANS 245
SOLVE IT How Many Nucleosomes in One Human
X Chromosome? 207
Special Features of Eukaryotic
Chromosomes 208 CHAPTER 11
COMPLEXITY OF DNA IN CHROMOSOMES: UNIQUE AND
REPETITIVE SEQUENCES 209
CENTROMERES 211
Transcription and RNA
TELOMERES 211 Processing 252
Storage and Transmission of Information with
Simple Codes 252
Transfer of Genetic Information: The Central
CHAPTER 10 Dogma 253
TRANSCRIPTION AND TRANSLATION 253
Replication of DNA and FIVE TYPES OF RNA MOLECULES 254

Chromosomes 217 The Process of Gene Expression 255

Monozygotic Twins: Are They Identical? 217 AN mRNA INTERMEDIARY 255
Basic Features of DNA Replication In Vivo 218 GENERAL FEATURES OF RNA SYNTHESIS 257

SEMICONSERVATIVE REPLICATION OF DNA MOLECULES 218 PROBLEMSOLVING SKILLS Distinguishing RNAs

SEMI CONSERVATIVE REPLICATION OF EUKARYOTIC Transcribed from Viral and Host DNAs 258
CHROMOSOMES 220 Transcription in Prokaryotes 259
ORIGINS OF REPLICATION 221
RNA POLYMERASES: COMPLEX ENZYMES 259
SOLVE IT Semiconservative Replication of DNA 221 INITIATION OF RNA CHAINS 260
PROBLEMSOLVING SKILLS Predicting Patterns ELONGATION OF RNA CHAINS 260
of 3H Labeling in Chromosomes 223 TERMINATION OF RNA CHAINS 261
REPLICATION FORKS 224 CONCURRENT TRANSCRIPTION, TRANSLATION, AND mRNA
BIDIRECTIONAL REPLICATION 225 DEGRADATION 262

DNA Replication in Prokaryotes 228 Transcription and RNA Processing

CONTINUOUS SYNTHESIS OF ONE STRAND; DISCONTINUOUS in Eukaryotes 263
SYNTHESIS OF THE OTHER STRAND 228 FIVE RNA POLYMERASES/FIVE SETS OF GENES 263
COVALENT CLOSURE OF NICKS IN DNA BY DNA LIGASE 229 INITIATION OF RNA CHAINS 265
INITIATION OF DNA REPLICATION 230 SOLVE IT Initiation of Transcription by RNA
INITIATION OF DNA CHAINS WITH RNA PRIMERS 230 Polymerase II in Eukaryotes 265

xiv

FM.indd 14 9/10/2015 7:38:06 PM

 RNA CHAIN ELONGATION AND THE ADDITION OF 5 METHYL The Genetic Code 302
GUANOSINE CAPS 266
PROPERTIES OF THE GENETIC CODE 302
TERMINATION BY CHAIN CLEAVAGE AND THE ADDITION
OF 3 POLYA TAILS 267 DECIPHERING THE CODE 302
INITIATION AND TERMINATION CODONS 303
SOLVE IT Formation of the 3 -Terminus of an RNA
Polymerase II Transcript 268 A DEGENERATE AND ORDERED CODE 303
A NEARLY UNIVERSAL CODE 305
RNA EDITING: ALTERING THE INFORMATION CONTENT
OF mRNA MOLECULES 268 PROBLEMSOLVING SKILLS Predicting Amino Acid
Interrupted Genes in Eukaryotes: Exons Substitutions Induced by Mutagens 305
and Introns 269 Codon-tRNA Interactions 306
EVIDENCE FOR INTRONS 270 RECOGNITION OF CODONS BY tRNAs: THE WOBBLE
SOME VERY LARGE EUKARYOTIC GENES 271 HYPOTHESIS 306

INTRONS: BIOLOGICAL SIGNIFICANCE? 271 SUPPRESSOR MUTATIONS THAT PRODUCE tRNAs WITH
ALTERED CODON RECOGNITION 307
Removal of Intron Sequences by RNA SOLVE IT Effects of Base-Pair Substitutions in the
Splicing 272 Coding Region of the HBB Gene 308
SEQUENCE SIGNALS FOR RNA SPLICING 272
tRNA PRECURSOR SPLICING: UNIQUE NUCLEASE AND
LIGASE ACTIVITIES 273
AUTOCATALYTIC SPLICING 273
PREmRNA SPLICING: snRNAS, snRNPs, AND
CHAPTER 13
THE SPLICEOSOME 274
Mutation, DNA Repair, and
Recombination 313
Xeroderma Pigmentosum: Defective Repair
CHAPTER 12 of Damaged DNA in Humans 313
Mutation 314
Translation and the Genetic SOMATIC AND GERMINAL MUTATIONS 314

Code 280 SPONTANEOUS AND INDUCED MUTATIONS 314

FORWARD AND REVERSE MUTATIONS 315
Sickle-Cell Anemia: Devastating Effects of a Single
Amino Acid Change 280 USUALLY DELETERIOUS AND RECESSIVE 315

Protein Structure 281 The Molecular Basis of Mutation 317

POLYPEPTIDES: TWENTY DIFFERENT AMINO ACID SINGLE BASEPAIR CHANGES AND FRAMESHIFT
SUBUNITS 281 MUTATIONS 317
PROTEINS: COMPLEX THREEDIMENSIONAL STRUCTURES 281 SOLVE IT Nucleotide-Pair Substitutions in the Human
Genes Encode Polypeptides 284 HBB Gene 318
TRANSPOSON INSERTION MUTATIONS 318
BEADLE AND TATUM: ONE GENEONE ENZYME 284
MUTATIONS CAUSED BY EXPANDING TRINUCLEOTIDE
CRICK AND COLLEAGUES: EACH AMINO ACID IN A
REPEATS 319
POLYPEPTIDE IS SPECIFIED BY THREE NUCLEOTIDES 286
The Components of Polypeptide Mutagenesis 320
MULLER’S DEMONSTRATION THAT MUTATIONS CAN BE
Synthesis 289 INDUCED WITH XRAYS 320
OVERVIEW OF GENE EXPRESSION 289 INDUCING MUTATIONS WITH RADIATION 321
RIBOSOMES 290 INDUCING MUTATIONS WITH CHEMICALS 323
TRANSFER RNAs 292 SCREENING CHEMICALS FOR MUTAGENICITY: THE AMES
The Process of Polypeptide Synthesis 294 TEST 326

POLYPEPTIDE CHAIN INITIATION 294 PROBLEMSOLVING SKILLS Predicting Amino Acid

POLYPEPTIDE CHAIN ELONGATION 298 Changes Induced by Chemical Mutagens 327
POLYPEPTIDE CHAIN TERMINATION 300 Assigning Mutations to Genes by the
SOLVE IT Control of Translation in Eukaryotes 300 Complementation Test 329

xv

FM.indd 15 9/10/2015 7:38:07 PM

 LEWIS’S TEST FOR ALLELISM 329 ANALYSIS OF RNAs BY REVERSE TRANSCRIPTASEPCR
APPLYING THE COMPLEMENTATION TEST: AN EXAMPLE 331 RTPCR 366
ANALYSIS OF PROTEINS BY WESTERN BLOT
SOLVE IT How Can You Assign Mutations
TECHNIQUES 368
to Genes? 331
The Molecular Analysis of Genes and
DNA Repair Mechanisms 333
Chromosomes 368
LIGHTDEPENDENT REPAIR 333
PHYSICAL MAPS OF DNA MOLECULES BASED ON RESTRICTION
EXCISION REPAIR 333 ENZYME CLEAVAGE SITES 369
OTHER DNA REPAIR MECHANISMS 334 NUCLEOTIDE SEQUENCES OF GENES AND CHROMOSOMES 370
INHERITED HUMAN DISEASES WITH DEFECTS
IN DNA REPAIR 336
PROBLEMSOLVING SKILLS Determining the
Nucleotide Sequences of Genetic Elements 373
DNA Recombination Mechanisms 338
RECOMBINATION: CLEAVAGE AND REJOINING
OF DNA MOLECULES 338
GENE CONVERSION: DNA REPAIR SYNTHESIS ASSOCIATED
WITH RECOMBINATION 341
CHAPTER 15
Genomics 379
Genomes from Denisova Cave 379
CHAPTER 14 Genomics: An Overview 380
THE SCOPE OF GENOMICS 380
The Techniques of Molecular GENOMICS DATABASES 380
PROBLEMSOLVING SKILLS Using Bioinformatics
Genetics 350 to Investigate DNA Sequences 382
Treatment of Pituitary Dwarfism with Human
Growth Hormone 350 Correlated Genetic, Cytological, and Physical
Basic Techniques Used to Identify, Amplify, Maps of Chromosomes 382
and Clone Genes 351 GENETIC, CYTOLOGICAL, AND PHYSICAL MAPS 383
DNA CLONING: AN OVERVIEW 351 HIGHDENSITY GENETIC MAPS OF MOLECULAR MARKERS 384
RESTRICTION ENDONUCLEASES 351 CONTIG MAPS AND CLONE BANKS 385
MAPBASED CLONING OF GENES 387
SOLVE IT How Many NotI Restriction Fragments
in Chimpanzee DNA? 354 The Human Genome Project 387
PRODUCING RECOMBINANT DNA MOLECULES IN VITRO 354 MAPPING THE HUMAN GENOME 388
AMPLIFICATION OF RECOMBINANT DNA MOLECULES SEQUENCING THE HUMAN GENOME 388
IN CLONING VECTORS 354 GENERAL FEATURES OF THE HUMAN GENOME 390
CLONING LARGE GENES AND SEGMENTS OF GENOMES REPEATED SEQUENCES IN THE HUMAN GENOME 390
IN BACs, PACs, AND YACs 357
GENES IN THE HUMAN GENOME 391
AMPLIFICATION OF DNA SEQUENCES BY THE POLYMERASE
CHAIN REACTION PCR 358 SOLVE IT What Can You Learn about DNA Sequences
Using Bioinformatics? 392
Construction and Screening of DNA
SINGLENUCLEOTIDE POLYMORPHISMS AND THE HUMAN
Libraries 360 HAPMAP PROJECT 395
CONSTRUCTION OF GENOMIC LIBRARIES 360
RNA and Protein Assays of Genome
CONSTRUCTION OF cDNA LIBRARIES 361
Functions 397
SCREENING DNA LIBRARIES FOR GENES OF INTEREST 361
MICROARRAYS AND GENE CHIPS 397
SOLVE IT How Can You Clone a Specific NotI
THE GREEN FLUORESCENT PROTEIN AS A REPORTER
Restriction Fragment from the Orangutan OF PROTEIN PRESENCE 400
Genome? 363
Genome Diversity and Evolution 401
The Molecular Analysis of DNA, RNA,
PROKARYOTIC GENOMES 401
and Protein 364 A LIVING BACTERIUM WITH A CHEMICALLY SYNTHESIZED
ANALYSIS OF DNAs BY SOUTHERN BLOT HYBRIDIZATIONS 364 GENOME 403
ANALYSIS OF RNAs BY NORTHERN BLOT HYBRIDIZATIONS 365 THE GENOMES OF MITOCHONDRIA AND CHLOROPLASTS 404

xvi

FM.indd 16 9/10/2015 7:38:07 PM

 EUKARYOTIC GENOMES 407 Reverse Genetics: Dissecting Biological
COMPARATIVE GENOMICS: A WAY TO STUDY EVOLUTION 408 Processes by Inhibiting Gene Expression 442
PALEOGENOMICS 409
KNOCKOUT MUTATIONS IN THE MOUSE 443
SOLVE IT What Do We Know about the Mitochondrial TDNA AND TRANSPOSON INSERTIONS 445
Genome of the Extinct Woolly Mammoth? 411 RNA INTERFERENCE 446
SOLVE IT How Might RNA Interference Be Used
to Treat Burkitt’s Lymphoma? 448
Genome Engineering 448
CHAPTER 16 THE CRISPR/CAS9 SYSTEM FOR CLEAVING DNA
MOLECULES 448
Applications of Molecular TARGETED MUTAGENESIS WITH THE CRISPR/CAS9
SYSTEM 450
Genetics 417 DELETING, REPLACING, AND EDITING GENES WITH THE CRISPR/
Gene Therapy Improves Sight in Child with CAS9 SYSTEM 452
Congenital Blindness 417
Use of Recombinant DNA Technology
to Identify Human Genes and Diagnose
Genetic Diseases 418 CHAPTER 17
HUNTINGTON’S DISEASE 418
PROBLEMSOLVING SKILLS Testing for Regulation of Gene Expression
Mutant Alleles that Cause Fragile X Mental
Retardation 421 in Prokaryotes 459
CYSTIC FIBROSIS 421 D’Hérelle’s Dream 459
MOLECULAR DIAGNOSIS OF HUMAN DISEASES 424 Strategies for Regulating Genes in
Human Gene Therapy 426 Prokaryotes 460
DIFFERENT TYPES OF GENE THERAPY 426 Constitutive, Inducible, and Repressible
GENE THERAPY VECTORS 427 Gene Expression 461
CRITERIA FOR APPROVING GENE THERAPY 427
Positive and Negative Control of Gene
GENE THERAPY FOR AUTOSOMAL IMMUNODEFICIENCY
DISEASE 428 Expression 462
GENE THERAPY FOR XLINKED IMMUNODEFICIENCY Operons: Coordinately Regulated Units
DISEASE 428
of Gene Expression 464
SUCCESSFUL GENE THERAPY AND FUTURE PROSPECTS 430
DNA Profiling 431 The Lactose Operon in E. coli: Induction and
DNA PROFILING 431
Catabolite Repression 466
PATERNITY TESTS 435 SOLVE IT Constitutive Mutations in the E. coli lac
FORENSIC APPLICATIONS 435 Operon 468
SOLVE IT How Can DNA Profiles Be Used to Establish INDUCTION 468
Identity? 435 CATABOLITE REPRESSION 469
PROBLEMSOLVING SKILLS Testing Your
Production of Eukaryotic Proteins in
Understanding of the lac Operon 471
Bacteria 437
PROTEINDNA INTERACTIONS THAT CONTROL
HUMAN GROWTH HORMONE 437 TRANSCRIPTION OF THE lac OPERON 472
PROTEINS WITH INDUSTRIAL APPLICATIONS 438
The Tryptophan Operon in E. coli: Repression
Transgenic Animals and Plants 439 and Attenuation 474
TRANSGENIC ANIMALS: MICROINJECTION OF DNA INTO REPRESSION 474
FERTILIZED EGGS AND TRANSFECTION OF EMBRYONIC
ATTENUATION 475
STEM CELLS 439
TRANSGENIC PLANTS: THE TI PLASMID OF AGROBACTERIUM SOLVE IT Regulation of the Histidine Operon
TUMEFACIENS 440 of Salmonella typhimurium 477

xvii

FM.indd 17 9/10/2015 7:38:07 PM

 Posttranscriptional Regulation of Gene Activation and Inactivation of Whole
Expression in Prokaryotes 479 Chromosomes 503
TRANSLATIONAL CONTROL OF GENE EXPRESSION 479 INACTIVATION OF X CHROMOSOMES IN MAMMALS 504
POSTTRANSLATIONAL REGULATORY MECHANISMS 479 HYPERACTIVATION OF X CHROMOSOMES IN DROSOPHILA 505
HYPOACTIVATION OF X CHROMOSOMES
IN CAENORHABDITIS 506

CHAPTER 18
CHAPTER 19
Regulation of Gene Expression
in Eukaryotes 484 Inheritance of Complex
African T rypanosomes: A Wardrobe of Molecular Traits 511
Disguises 484 Cardiovascular Disease: A Combination of Genetic
Ways of Regulating Eukaryotic Gene and Environmental Factors 511
Expression: An Overview 485 Complex Traits 512
DIMENSIONS OF EUKARYOTIC GENE REGULATION 485 QUANTIFYING COMPLEX TRAITS 512
CONTROLLED TRANSCRIPTION OF DNA 485 GENETIC AND ENVIRONMENTAL FACTORS INFLUENCE
ALTERNATE SPLICING OF RNA 486 QUANTITATIVE TRAITS 512
CYTOPLASMIC CONTROL OF MESSENGER RNA MULTIPLE GENES INFLUENCE QUANTITATIVE TRAITS 512
STABILITY 486 THRESHOLD TRAITS 514
SOLVE IT Counting mRNAs 487 Statistics of Quantitative Genetics 515
Induction of Transcriptional Activity by FREQUENCY DISTRIBUTIONS 515
Environmental and Biological Factors 487 THE MEAN AND THE MODAL CLASS 516
TEMPERATURE: THE HEATSHOCK GENES 488 THE VARIANCE AND THE STANDARD DEVIATION 516
SIGNAL MOLECULES: GENES THAT RESPOND Statistical Analysis of Quantitative Traits 517
TO HORMONES 488
THE MULTIPLE FACTOR HYPOTHESIS 518
Molecular Control of Transcription PARTITIONING THE PHENOTYPIC VARIANCE 518
in Eukaryotes 490 BROADSENSE HERITABILITY 519
DNA SEQUENCES INVOLVED IN THE CONTROL SOLVE IT Estimating Genetic and Environmental
OF TRANSCRIPTION 490 Variance Components 519
PROTEINS INVOLVED IN THE CONTROL OF TRANSCRIPTION: NARROWSENSE HERITABILITY 520
TRANSCRIPTION FACTORS 491
PREDICTING PHENOTYPES 521
PROBLEMSOLVING SKILLS Defining the
SOLVE IT Using the Narrow-Sense Heritability 522
Sequences Required for a Gene’s Expression 492
ARTIFICIAL SELECTION 522
Posttranscriptional Regulation of Gene
Molecular Analysis of Complex Traits 523
Expression by RNA Interference 494
QUANTITATIVE TRAIT LOCI 523
RNAi PATHWAYS 494
GENOMEWIDE ASSOCIATION STUDIES OF HUMAN DISEASES 526
SOURCES OF SHORT INTERFERING RNAs AND
MicroRNAs 496 PROBLEMSOLVING SKILLS Detecting
Dominance at a QTL 527
SOLVE IT Using RNAi in Cell Research 497
Gene Expression and Chromatin Correlations between Relatives 531
CORRELATING QUANTITATIVE PHENOTYPES BETWEEN
Organization 497 RELATIVES 531
EUCHROMATIN AND HETEROCHROMATIN 498 INTERPRETING CORRELATIONS BETWEEN RELATIVES 533
MOLECULAR ORGANIZATION OF TRANSCRIPTIONALLY
ACTIVE DNA 498 Quantitative Genetics of Human
CHROMATIN REMODELING 499 Behavioral Traits 535
DNA METHYLATION 500 INTELLIGENCE 535
IMPRINTING 502 PERSONALITY 536

xviii

FM.indd 18 9/10/2015 7:38:07 PM

 CHAPTER 20 SOLVE IT Accumulating Drug-Resistance Genes W C - 5
Cut-and-Paste Transposons in Eukaryotes WC-7
Population Genetics 541 Ac AND Ds ELEMENTS IN MAIZE WC7
A Remote Colony 541 P ELEMENTS AND HYBRID DYSGENESIS IN DROSOPHILA WC9
The Theory of Allele Frequencies 542 PROBLEMSOLVING SKILLS Analyzing
ESTIMATING ALLELE FREQUENCIES 542
Transposon Activity in Maize W C - 10
RELATING GENOTYPE FREQUENCIES TO ALLELE Retroviruses and Retrotransposons WC-11
FREQUENCIES: THE HARDYWEINBERG PRINCIPLE 543
RETROVIRUSES WC12
APPLICATIONS OF THE HARDYWEINBERG PRINCIPLE 543
RETROVIRUSLIKE ELEMENTS WC14
EXCEPTIONS TO THE HARDYWEINBERG PRINCIPLE 545
RETROPOSONS WC16
SOLVE IT The Effects of Inbreeding on Hardy–
Weinberg Frequencies 546
Transposable Elements in Humans WC-17
USING ALLELE FREQUENCIES IN GENETIC The Genetic and Evolutionary Significance
COUNSELING 547 of Transposable Elements WC-20
Natural Selection 548 TRANSPOSONS AS MUTAGENS WC20
THE CONCEPT OF FITNESS 548 GENETIC TRANSFORMATION WITH TRANSPOSONS WC20
NATURAL SELECTION AT THE LEVEL OF THE GENE 549 SOLVE IT Transposon-Mediated Chromosome
SOLVE IT Selection against a Harmful Recessive Rearrangements W C - 22
Allele 550 TRANSPOSONS AND GENOME ORGANIZATION WC22

Random Genetic Drift 552

RANDOM CHANGES IN ALLELE FREQUENCIES 552
THE EFFECTS OF POPULATION SIZE 553
PROBLEMSOLVING SKILLS Applying Genetic
CHAPTER 22 (Online)
Drift to Pitcairn Island 554
The Genetic Control
Populations in Genetic Equilibrium 554
BALANCING SELECTION 555
of Animal Development WC-28
Stem-Cell Therapy WC-28
MUTATIONSELECTION BALANCE 556
MUTATIONDRIFT BALANCE 557 A Genetic Perspective on Development WC-29
Maternal Gene Activity in Development WC-31
Answers to Odd-Numbered Questions
MATERNALEFFECT GENES WC31
and Problems 563
DETERMINATION OF THE DORSALVENTRAL AND
ANTERIORPOSTERIOR AXES WC32
Glossary 584
SOLVE IT A Maternal-Effect Mutation in the
Index 607 cinnamon Gene W C- 32
Zygotic Gene Activity in Development WC-35
BODY SEGMENTATION WC35
CHAPTER 21 (Online) ORGAN FORMATION WC37
SPECIFICATION OF CELL TYPES WC39
Transposable Genetic SOLVE IT Cave Blindness W C - 39
Elements WC-1 PROBLEMSOLVING SKILLS The Effects of
M aize: A Staple Crop with a Cultural Heritage WC-1 Mutations during Eye Development W C - 41
Transposable Elements: An Overview W C -2 Genetic Analysis of Development
in Vertebrates WC-41
Transposable Elements in Bacteria W C -3
VERTEBRATE HOMOLOGUES OF INVERTEBRATE
IS ELEMENTS WC3 GENES WC41
COMPOSITE TRANSPOSONS WC5 THE MOUSE: RANDOM INSERTION MUTATIONS
THE Tn3 ELEMENT WC5 AND GENESPECIFIC KNOCKOUT MUTATIONS WC42

xix

FM.indd 19 9/10/2015 7:38:07 PM

 STUDIES WITH MAMMALIAN STEM CELLS WC43 The Emergence of Evolutionary Theory WC-77
REPRODUCTIVE CLONING WC44
DARWIN’S THEORY OF EVOLUTION WC77
GENETIC CHANGES IN THE DIFFERENTIATION OF
EVOLUTIONARY GENETICS WC78
VERTEBRATE IMMUNE CELLS WC45
Genetic Variation in Natural Populations WC-79
VARIATION IN PHENOTYPES WC79

CHAPTER 23 (Online) VARIATION IN CHROMOSOME STRUCTURE WC80

VARIATION IN PROTEIN STRUCTURE WC81
VARIATION IN NUCLEOTIDE SEQUENCES WC81
The Genetic Basis of Molecular Evolution WC-82
Cancer WC-51 MOLECULES AS “DOCUMENTS OF EVOLUTIONARY
A Molecular Family Connection WC-51 HISTORY” WC83
Cancer: A Genetic Disease WC-52 MOLECULAR PHYLOGENIES WC84
THE MANY FORMS OF CANCER WC52 RATES OF MOLECULAR EVOLUTION WC84
CANCER AND THE CELL CYCLE WC53 PROBLEMSOLVING SKILLS Using Mitochondrial
CANCER AND PROGRAMMED CELL DEATH WC54 DNA to Establish a Phylogeny W C - 85
A GENETIC BASIS FOR CANCER WC54 THE MOLECULAR CLOCK WC87
VARIATION IN THE EVOLUTION OF PROTEIN SEQUENCES WC87
Oncogenes WC-55
SOLVE IT Calculating Divergence Times W C - 87
TUMORINDUCING RETROVIRUSES AND VIRAL
ONCOGENES WC55 VARIATION IN THE EVOLUTION OF DNA SEQUENCES WC88
CELLULAR HOMOLOGUES OF VIRAL ONCOGENES: THE NEUTRAL THEORY OF MOLECULAR EVOLUTION WC89
THE PROTOONCOGENES WC56 MOLECULAR EVOLUTION AND PHENOTYPIC EVOLUTION WC90
SOLVE IT The v-erbB and v-fms Viral Oncogenes WC-56 SOLVE IT Evolution by Mutation and Genetic
MUTANT CELLULAR ONCOGENES AND CANCER WC57 Drift WC-90
CHROMOSOME REARRANGEMENTS AND CANCER WC59 Speciation WC-92
Tumor Suppressor Genes WC-60 WHAT IS A SPECIES? WC92
INHERITED CANCERS AND KNUDSON’S TWOHIT MODES OF SPECIATION WC94
HYPOTHESIS WC60
Human Evolution WC-96
CELLULAR ROLES OF TUMOR SUPPRESSOR PROTEINS WC63
HUMANS AND THE GREAT APES WC96
pRB WC63
HUMAN EVOLUTION IN THE FOSSIL RECORD WC96
PROBLEMSOLVING SKILLS Estimating Mutation
DNA SEQUENCE VARIATION AND HUMAN ORIGINS WC97
Rates in Retinoblastoma WC-63
p53 WC65
SOLVE IT Downstream of p53 WC-65 Appendices (Online)
pAPC WC67
phMSH2 WC68
Appendix A: The Rules of Probability WA-1
pBRCA1 AND pBRCA2 WC69 Appendix B: Binomial Probabilities WA-3
Genetic Pathways to Cancer WC-70 Appendix C: Evolutionary Rates WA-5

CHAPTER 24 (Online)
Evolutionary Genetics WC-76
D’ou venons nous? Que sommes nous? Ou allons
nous? WC-76

xx

FM.indd 20 9/10/2015 7:38:07 PM

 The Science of Genetics
1
CHAPTER OUTLINE
▶ An Invitation
▶ Three Great Milestones in Genetics
▶ DNA as the Genetic Material
▶ Genetics and Evolution
▶ Levels of Genetic Analysis
▶ Genetics in the World: Applications
of Genetics to Human Endeavors

▶
The Personal Genome
Each of us is composed of trillions of cells, and each of those cells
contains very thin fibers a few centimeters long that play a major role
in who we are, as human beings and as persons. These all-important
intracellular fibers are made of DNA. Every time a cell divides, its
DNA is replicated and apportioned equally to two daughter cells. The
DNA content of these cells—what we call the genome—is thereby
conserved. This genome is a master set of instructions, in fact a whole
library of information, that cells use to maintain the living state.
Ultimately, all the activities of a cell depend on it. To know the DNA is
therefore to know the cell, and, in a larger sense, to know the organism
to which that cell belongs.
Given the importance of the DNA, it should come as no surprise that
great efforts have been expended to study it, down to the finest details. In
fact, in the last decade of the twentieth century a worldwide campaign, the
Human Genome Project, took shape, and in 2001 it produced a compre-
hensive analysis of human DNA samples that had been collected from a
small number of anonymous donors. This work—stunning in scope and
significance—laid the foundation for all future research on the human
genome. Then, in 2007, the analysis of human DNA took a new turn.
Two of the architects of the Human Genome Project had their own DNA
decoded. The technology for analyzing complete genomes has advanced
Science Photo Library/Getty Images, Inc.

significantly, and the cost for this analysis is no longer exorbitant. In fact, it
may soon be possible for each of us to have our own genome analyzed—
a prospect that is sure to influence our lives and change how we think
about ourselves.

Computer artwork of deoxyribonucleic acid (DNA).

1

CH01.indd 1 9/8/2015 9:46:13 AM

 2 Chapter 1 The Science of Genetics

An Invitation
This book is about genetics, the science that deals with DNA. Genetics is also one of
the sciences that has a profound impact on us. Through applications in agriculture
and medicine, it helps to feed us and keep us healthy. It also provides insight into what
makes us human and into what distinguishes each of us as individuals. Genetics is a
relatively young science—it emerged only at the beginning of the twentieth century,
but it has grown in scope and significance, so much so that it now has a prominent, and
some would say commanding, position in all of biology.
Genetics began with the study of how the characteristics of organisms are passed
from parents to offspring—that is, how they are inherited. Until the middle of the
twentieth century, no one knew for sure what the hereditary material was. However,
geneticists recognized that this material had to fulfill three requirements. First, it had
to replicate so that copies could be transmitted from parents to offspring. Second, it
had to encode information to guide the development, functioning, and behavior of
cells and organisms to which they belong. Third, it had to change, even if only once in
a great while, to account for the differences that exist among individuals. For several
decades, geneticists wondered what the hereditary material could be. Then in 1953
the structure of DNA was elucidated and genetics had its great clarifying moment. In
a relatively short time, researchers discovered how DNA functions as the hereditary
material—that is, how it replicates, how it encodes and expresses information, and
how it changes. These discoveries ushered in a new phase of genetics in which phe-
nomena could be explained at the molecular level. In time, geneticists learned how to
analyze the DNA of whole genomes, including our own. This progress—from studies
of heredity to studies of whole genomes—has been amazing.
As experienced geneticists and as teachers, we have written this book to explain
the science of genetics to you. As its title indicates, this book is designed to convey
the principles of genetics, and to do so in sufficient detail for you to understand them
clearly. We invite you to read each chapter, to study its illustrations, and to wrestle
with the questions and problems at the end of the chapter. We all know that learning—
and research, teaching, and writing too—takes effort. As authors, we hope your effort
studying this book will be rewarded with a good understanding of genetics.
This introductory chapter provides an overview of what we will explain in more
detail in the chapters to come. For some of you, it will be a review of knowledge
gained from studying basic biology and chemistry. For others, it will be new fare. Our
advice is to read the chapter without dwelling on the details. The emphasis here is on
the grand themes that run through genetics. The many details of genetics theory and
practice will come later.

Three Great Milestones in Genetics

Genetics is rooted in the research of Gregor Scientific knowledge and understanding usually advance incremen-
tally. In this book we will examine the advances that have occurred
Mendel, a monk who discovered how traits are
in genetics during its short history—barely a hundred years. Three
inherited. The molecular basis of heredity was great milestones stand out in this history: (1) the discovery of rules
revealed when James Watson and Francis Crick governing the inheritance of traits in organisms, (2) the identifica-
tion of the material responsible for this inheritance and the eluci-
elucidated the structure of DNA. The Human dation of its structure, and (3) the comprehensive analysis of the
Genome Project is currently engaged in the hereditary material in human beings and other organisms.
detailed analysis of human DNA.

MENDEL: GENES AND THE RULES OF INHERITANCE

Although genetics developed during the twentieth century, its origin is rooted in the work
of Gregor Mendel (◾ Figure 1.1), a Moravian monk who lived in the nineteenth century.

CH01.indd 2 9/8/2015 9:46:13 AM

 Three Great Milestones in Genetics 3

Mendel carried out his path-breaking research in relative obscurity.

He studied the inheritance of different traits in peas, which he
grew in the monastery garden. His method involved interbreed-
ing plants that showed different traits—for example, short plants
were bred with tall plants—to see how the traits were inherited by
the offspring. Mendel’s careful analysis enabled him to discern pat-
terns, which led him to postulate the existence of hereditary factors
responsible for the traits he studied. We now call these factors genes.
Mendel studied several genes in the garden pea. Each of the
genes was associated with a different trait—for example, plant
height, or flower color, or seed texture. He discovered that these
genes exist in different forms, which we now call alleles. One form
of the gene for height, for example, allows pea plants to grow
more than 2 meters tall; another form of this gene limits their
growth to about half a meter.
Mendel proposed that pea plants carry two copies of each

James King-Holmes/Photo Researchers, Inc.

gene. These copies may be the same or different. During repro-
duction, one of the copies is randomly incorporated into each sex
cell or gamete. The female gametes (eggs) unite with the male
gametes (sperm) at fertilization to produce single cells, called
zygotes, which then develop into new plants. The reduction
in gene copies from two to one during gamete formation and
the subsequent restoration of two copies during fertilization
underlie the rules of inheritance that Mendel discovered.
Mendel emphasized that the hereditary factors—that is,
the genes—are discrete entities. Different alleles of a gene can
be brought together in the same plant through hybridization and
can then be separated from each other during the production
of gametes. The coexistence of alleles in a plant therefore does ◾ FIGURE 1.1 Gregor Mendel.
not compromise their integrity. Mendel also found that alleles of
different genes are inherited independently of each other.
These discoveries were published in 1866 in the proceedings of the Natural
History Society of Brünn, the journal of the scientific society in the city where Men-
del lived and worked. The article was not much noticed, and Mendel went on to do
other things. In 1900, 16 years after he died, the paper finally came to light, and the
science of genetics was born. In short order, the type of analysis that Mendel pioneered
was applied to many kinds of organisms, and with notable success. Of course, not
every result fit exactly with Mendel’s principles. Exceptions were encountered, and
when they were investigated more fully, new insights into the behavior and proper-
ties of genes emerged. We will delve into Mendel’s research and its applications to the Nitrogen-containing base
study of inheritance, including heredity in humans, in Chapter 3, and we will explore H H
some ramifications of Mendel’s ideas in Chapter 4. In Chapters 5–7 we will see how N
Mendel’s principles of inheritance are related to the behavior of chromosomes—the Phosphate N C
cellular structures where genes reside. C N
O H H C
–
C C
O P O C H N N H
– O
WATSON AND CRICK: THE STRUCTURE OF DNA O
C C
The rediscovery of Mendel’s paper launched a plethora of studies on inheritance in H H
plants, animals, and microorganisms. The big question on everyone’s mind was “What H H
C C
is a gene?” In the middle of the twentieth century, this question was finally answered.
Genes were shown to consist of complex molecules called nucleic acids. O
H H
Nucleic acids are made of elementary building blocks called nucleotides (◾ Figure 1.2).
Each nucleotide has three components: (1) a sugar molecule; (2) a phosphate molecule, Sugar
which has acidic chemical properties; and (3) a nitrogen-containing molecule, which ◾ FIGURE 1.2 Structure of a nucleotide. The mol-
has slightly basic chemical properties. In ribonucleic acid, or RNA, the constituent sugar ecule has three components: a phosphate group,
is ribose; in deoxyribonucleic acid, or DNA, it is deoxyribose. Within RNA or DNA, one a sugar (in this case deoxyribose), and a nitrogen-
nucleotide is distinguished from another by its nitrogen-containing base. In RNA, the containing base (in this case adenine).

CH01.indd 3 9/8/2015 9:46:14 AM

Another random document with
no related content on Scribd:
Kemmerbund, 320
Kemmercheen, 318
Kerbela, 271
Kerbelai, 387
Kermanshah, 109
cheapness of, 112
Kerman shawls, 162
wine, 235
Kerrij, 27
Kerrind, 126
Khana Zinyūn, 225, 351
Khan Wakeel, 243
Khedkhoda, a, 268
Kherrah, 393
Khona Khora, 260
Khonsar, 131
Khosro Mirza, 203, 205, 217
Khyat, a, 191
“King Panther,” 45
King’s palace, 49
poet, 51
relative, 90
Kishmish wine, 159
Kit for Persia, 3
Knitting socks, 142
Kōhrūd Pass, the, 384
Kola, the, 320
Mūschir, 222
Kolajah, 318
Konar Khora, 356
Koom (or Kūm), 387
Koomishah (or Kūmishah), 268
famine at, 254
Koordi tobacco, 33
Koran reading, 337
Kosh gūzeran, 223
Kossid, a, 355
Kotol, a, 282
Kotul Dokter, 349
Peri Zun, 350
Kotuls, the, 349
Kūh Sufi, 162
Kūm, 387
Kūmishah, 357
Kumrahs, 230
Kūrdi bread, 336
Kurrachee, 344
Kūrsi, 138
Kūrūk, the custom of, 370
Kuttl-i-aum, or general massacre, 272

Lady patients, 38
Shiel, 154
La Fontaine, M., 7
Lake Jeukjar, 18
Lallahs, 326
Law, teachers of the, 338
as to cheques, 239
muleteers, 382
Lawn-tennis, 369
Laying carpets, mode of, 152
Lazarist Fathers, 165
Led horses, 56
Lemur, 343
Letter, a Persian, 289
Lighted charcoal, mode of producing, 390
Lika-ul-Molk, 270
Lilium candidum, 173
Lilliane, 131
Lily, painting the, 173
Linga, 345
Lion and Sun, Order of, 258
country, 351
cubs, 222
the tame, 306
Lioness, story of a, 350
Lisbon, 341
Little bishop, 158
Living, cost of, 186
Lizards, 93
Lodahs, 231
Lost arts, 162
Lottery, Indian, 340
Lutf-Ali-Khan, 264
Lūti-pūti, 239
Lūtis, 306
Lying, 315

Macheelah plain, 347

Madame O⸺, 340
Mad dog, 83
Magazine rifle, 224
Mahomed Ali, 19
Mahomed’s pigeon, 94
Mahommed Ali Khan, 146
Houssein Khan, 19
Major S⸺, 208
Major’s dervish, the, 42
Major St. John, 350
Maker of antiquities, 201
Malek Mahommed Beg, 329
Malekneas Khan, 126
Managing Persians, 179
Man nailed to post, 112
nurse, 276
Manuring, 174
Marching by night, 353
in Persia, 413
March to Shiraz, 206
Mardiros, Kashish, 141
Mare, I buy a, 349
Marg, 269
“Marjahn,” 302
Marnūn, 364
Marriage of Armenian priests, 141
Martyr, a, 154
Mary’s flower, 173
Mashallah, 290
Masreh, 396
Mast, 171
Master of ceremonies, 49
of the mint, 369
Matting, varieties of, 197
Maxūd Beg, 268, 357
Mayar, 357
McGowan, Sergeant, 384
McIntyre, Sergeant, 357
McL⸺, Sergeant, 386
“Meana bug,” the, 26, 217
Medical missionary, 163
practice, 182
Medresseh, 338
at Ispahan, 196
Mehdi, 317
Mejdabad, 388
Melons, 169, 311
Memorial to Sergeant Collins, 295
Merand, 115
Merchants, 188
Meshed carpets, 149
Meshedi, 387
Aga Jan, 224
Mesrop, priest, 140
Milking sheep, 389
Millingen, Dr., 7
Minarets, the Shaking, 361
Minor crops, 174
Mir-achor, the, 103
Mirza Abdul Wahab, 145
Ali Akbar, 244
Hassan Ali Khan, C.I.E., 225, 242
Mahmoud, 271
Naim, 272
Zeynal Abdeen, 125
Missionary, American, 330
church, 165
medical, 163
M⸺, M., 210
Moallim, a, 337
Mob of boys, 393
Mocha coffee, 298
Modakel, 66, 81
Modern college, 338
Mohurrim, 279
Mokhlis caravanserai, 182
Mole crickets, 216
Money table, 63
Mongoose, 303
Monk, the, 159
Monteforte, Count, 371
Month of fasting, 284
mourning, 279
Moollah, Hadji Ali Akbar, 229
Moonshee, the, 81
Mordecai, tomb of, 75
Morning rides, 64
Mortar, blowing from, 203
Mortaza Ali, plane of, 364
Moscow, 211
Mosque, interior of, 197
I put up in a, 131
ruined, 177
sleepers in, 197
tile, 197
Mosquitoes, 340
Mote and beam, picture of, 161
Mother, the, 314
Mothers-in-law, 326
Motummad-ul-Molk, 271
Mouth cloth, 132
M. P⸺, 331
M. Schwab, 401
Mr. Ayrton, 5
Mud as mourning, 126
Muggerpir, 344
Mule-buying, 127
Mules, bargaining for, 381
worn out, 193
Muleteers’ manners, 381
ponies, 347
Mūllas, 198
Mūllavi, the, 380
Mumbar, 197
Munjil, 399
Mūrb ab, 401
Mūrchicah, 374
Murder of a Syud, 265
Mūrghab, 355
carpets, 151
Mūschir, 240, 257
bastinadoed, 271
Mūschir’s coachman, 352
life attempted, 271
Mūschir-ul-Molk, 270
Mūshtaheds, 188
Musical amateur, a, 312
Musicians, 114
and singers, 91
Musjid-i-Shah Ispahan, 135
Mussulman converts, 164
My cornet-playing, 71
Myedesht, 126
My first horse, 62
“hold-all,” 55
house in Julfa, 206
landlord, 360
road, 363
Mystery of a Persian traveller, 225

Naib-ul-Ayalut, 120
Naksh, 131, 325
Naksh-i-Rūstam, 119
Name of God in conversation, 290
Houssein, 281
Nammad carpets, 152
coats, 152
Narghil, 30
Narrow escape, 203
Nastorange, 309
Natanz, 373
Native agents, 71
bits, 54, 329
Natural hot bath, 348
Needlework, 334
New coinage, 371
year, 48
festival, 51
presents, 379
Night marching, 353
Nishan, the, 250
Nose rings, 323
Nawalla, 103
Nude dervish, 43
Nummud, 40
Nun, cruelty to a, 140
expelled, 163
Nunnery, 139, 163
scandals at, 140
school, 140, 163
Nuns, 163
prayers of the, 139

O⸺, Madame, 340

Odd disorders, 65
Odling, Dr., 351
Oil lamps, 75
paintings, 377
Old Woman, pass of the, 350
Omar, ridicule of, 283
Omen, mode of taking, 277
Omens, 277
Opera at Moscow, 211
Opium, 180
adulteration of, 180
collecting the, 173
eater, an, 380
eating, 181
packing, 181
 preparation, 180
Orcheeni, 269
Ordinary executions, 202
Orphanage at Shiraz, 253
Orphans, fate of, famine, 253
Orūssēe, 57
Our cook, 379
telegraph staff, a grievance of, 133
Out-door costume of women, 325
Oysters at Kurrachee, 345

P⸺, Mr., 70, 225

Packing opium, 181
Pah Chenar, 397
Painters, 200
Painting, 333
the eyebrows, 327
the face, 41
the lily, 173
Paintings in cathedral, 160
Palaces, summer, 372
Palgrave, Mr. Gifford, 212
Pane, 302
Paraphrase, a, 285
Partridges sold alive, 221
tame, 308
Pass of the Old Woman, 350
of the Virgin, 350
Passanghūm, 387
Patient, a grandee, 243
Peacocks, 376
Pehliwans, 98
Pera, 8
Perhan, 322
Peri-bazaar, 210, 401
Persepolis, Ussher on, 217
Persian cat, 305
character, 314
cleanliness of the, 316
colonel, 80
consul, 15
costume, 317
court, 49
cuisine, 290
dinner, 91
drunkards, 141
Gulf to Ispahan, 347
justice, 121, 295
letter, 289
lying, 60
medicine, 33
opium, 181
patients, 64
prince, dinner with a, 114
home of a, 113
proverb, 123
Relief Committee, 252
roads, 22
sick-room, 244
singers, 114
tea, 16
woodcut (in facsimile), 287
Persia viâ Trebizonde, 212
Petrovsk, 404
Phantom cheese, tale of the, 172
Pharaoh and the magicians, 378
and the Red Sea, 378
Photography, 331
Pickles, 171
Pictures, the bishop’s, 159
Pierson, Capt. W.H., R.E., 32, 56, 269
death of his horse, 61
Pierson’s house, 57
stud, 61
Pigeon-fanciers, 95
flying, 95
ornaments, 96
shooting, 129
towers, 130
Pigeons, breeds of, 94
in kanāats, 129
Pig, wild, 177
Pig’s flesh, 179
“Pig-sticking,” 176
“Pip,” 347
Pipe at departure, 16
Pipes, details about, 29
Piræus, 212
Plane trees, 196
of Mortaza Ali, 364
Plaster work, 39
“Pocrat,” 82
Poetry, 285
at schools, 338
quoting of, 288, 338
to produce sleep, 286
Pole-buying, 80
Police, new, at Teheran, 371
Politeness of Zil-es-Sultan, 366
Pollak, Dr., 182
Pomegranates, 310
Poosseen Afghan, 319
Poppies, 173
Porcupines in kanāats, 129
Pork as an aphrodisiac, 399
wild, 179
Port Said, 342
Post, a man nailed to a, 112
Post-house, a night in a, 25
Post-houses, interior, 25
Posting, rate of, 328
rules for, 24, 259
Post-stages, length of, 23
Potatoes, a novelty, 170
Potters, 191
Preparation of opium, 180
Presentations at court, 151
Present of an arm-chair, 123
a fig, 179
 sweetmeats, 111
Price of Persian opium, 181
provisions, 187
Prideaux, Colonel, 346
Priests, Armenian, 197, 199, 363
Primitive forms of church, 140
Prince’s flirtations, 280
hakim-bashi, 145
physician, 145
Prison, dispensary over the, 182
Prisoners, 199
Procrastination, 315
Property, 120
Proverb, a Persian, 123
Provincial grandee, 89
Provisions, price of, 187
Pseudo-masonry, 124
Public at a tazzia, 280
Pulad, 332
Pul-i-Dellak, 388
Pul-i-Kojū, 195
Pulpit, 197, 279
Punishment of “the sticks,” 146
Put up in a mosque, 131

Quail-shooting, 90
Quarantine, 4
Quarters at Julfa, 206
Quinces, 170, 310
Quinine, 70
a general taking of, 398
Quotation of poetry, 288

Racecourse at Ispahan, 364

Races at Teheran, 214
Rahim Khan, 73
Railway, Moscow to Petersburg, 211
Rain, 175
Ramazan, fast of the, 284
Rammals, 120
Rams, fighting, 308
Raphael, a suspicious, 161
Rawlinson, Sir H., 109
Reading poetry, 145
Real ancient relic, 80
Red tape, 317
Réflet Métallique, 191
Relations of master and servant, 326
Religion of people, 339
teachers of, 338
Religious affectation, 285
toleration, 339
Removal of ancient building, 364
Repudiation, a, 273
Resht, 210
embroideries, 333
Resht-i-Behesht, 226
Respect to parents, 314
Rev. R. B⸺, 340
Riding-trousers, Persian, 322
Ring, a curious, 376
Ripsimeh, St., 160
Rise of the Zenda Rūd, 194
River Kara Sū, 108
Road-cooking, 107
Road to Shiraz, 217
Roads in Turkey, 213
want of, 248
Robber-chief, 264
Robbers, 263
alarm of, 130
fate of, 269
fight amongst, 265
Rock sculptures, 119
Rodolphe, 162
Roman Catholic Armenians, 166
Rookhnabad, 218
Rookhni, spring of, 241
Room-fellow, a would-be, 246
Roseh-Khana, 283
Rose-water, 309
Ross, Colonel, 346
Rotten Row of Shiraz, 219
Row at the bath, 71
Royal bounty, 51
edict, 63
farrashes, 51
firman, 257
ornaments, 50
Rūbandah, 334
Rūdbar, 399
Rudeness of Zil-es-Sultan, 367
Ruhdesht, 176
Ruined bazaar, 200
mosque, 177
Running footmen, 370
Russian bread, 18
cigarettes, 340
goods, 373 (Appendix D.)
Russian passengers, 10
post-house, 13
steamer, 9
subjects in Persia, 159
wines, 10
Rūstumabad, 209

S⸺, Captain, 179

S⸺, Colonel, 208
S⸺, Mr., 340, 385
Saadi, a moral tale of, 277
at schools, 338
 tomb of, 278
Sacred trees, 364
Sacrifice of an ox, 258
Saddle-bags, 22
Saddle for riding post, 4
St. George’s church, 143
St. J⸺, Captain, 225
St. John, Major, 350
St. Michael, picture of, 158
Saint, shrine of a, 362
Salaam, the, 51
Salt lake, 247
marsh, 393
Samovar, 311
Sana, 108
Sanctuary, 137
Sang, 334
Sangak bread, 334
Sarhang, the, 80
Sau-sau-Rac, 274
Scandals at nunnery, 140
Scars on horses, 61
Scenery in North Persia, 397
School discipline, 337
Schools, 163
Schwab, Mr., 401
Scorpions, 249
stings of, 249
suicide of, 249
varieties of, 249
Sealing, 184
Seals, 184
Securing doors, mode of, 142
Segah, the, 326
Seidūn, 260
Sergeant Collins, 293
Hockey, 127
Sergipatoffski, Mr., 214
Serrum-u-Dowlet, 112
Servants, 67
honesty of, 313
posting, 260
wages, 67
Severe governors, 206
Shah Abbas the Great, 161, 390
bribing the, 271
Paleng, 45
the, 50, 370
Shah’s tower, 402
Shahtirs, 370
Shaking Minarets, the, 361
Sharp ride, a, 208
Shashgird, 389
Shawls, 274
Sheep, 175