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Garland Science About the Author
Vice President: Denise Schanck I became fascinated with the natural world when I was very
Editor: Elizabeth Owen young. I began my research career studying the effects of metal
Editorial Assistants: David Borrowdale and Louise Dawnay pollution on microorganisms and the tolerance that some plants
Production Editor and Layout: EJ Publishing Services display to high concentrations of toxic metals. I then became
Illustrator and Cover Design: Matthew McClements, Blink Studio, Ltd. excited by DNA and worked on mitochondrial genes in fungi
Copyeditors: Richard K. Mickey and Bruce Goatly in order to learn the new (in those days) techniques for gene
Proofreader: Jo Clayton cloning and DNA sequencing. I contributed to the discovery
of mitochondrial introns and to work that described the base-
paired structure of these introns. I then became interested in
ancient DNA and was one of the first people to carry out DNA
Cover image courtesy of Richard Wheeler extractions with bones and preserved plant remains. This work
has required close collaboration with archaeologists, and has
led to my current interests in the origins of agriculture, genetic
profiling of archaeological skeletons, and the evolution of
disease.
© 2012 by Garland Science, Taylor & Francis Group, LLC I obtained my PhD from University College London in
1977 and then worked in New York, Oxford, Colchester,
and Manchester before beginning in 1984 as a Lecturer in
Biotechnology at the University of Manchester Institute of
This book contains information obtained from authentic and highly Science and Technology (UMIST). I was appointed Professor of
regarded sources. Reprinted material is quoted with permission, Biomolecular Archaeology in 2000 and was Head of Biomolecular
and sources are indicated. A wide variety of references are listed. Sciences at UMIST from 2002–2004. I was then Associate Dean in
Reasonable efforts have been made to publish reliable data and the Faculty of Life Sciences of the University of Manchester until
information, but the author and the publisher cannot assume 2006, before taking a break from administration in order to have
responsibility for the validity of all materials or for the consequences more time to do research.
of their use. All rights reserved. No part of this publication may be My other undergraduate textbooks include Genomes,
reproduced, stored in a retrieval system or transmitted in any form Third Edition (Garland Science), Gene Cloning and DNA
or by any means—graphic, electronic, or mechanical, including Analysis: An Introduction, Sixth Edition (Wiley-Blackwell) and,
photocopying, recording, taping, or information storage and retrieval with Keri Brown, Biomolecular Archaeology: An Introduction
systems—without permission of the copyright holder. (Wiley-Blackwell).

ISBN 978-0-8153-6509-9

Library of Congress Cataloging-in-Publication Data

Brown, Terry.
Introduction to genetics : a molecular approach / Terry Brown.
p. cm.
Includes index.
ISBN 978-0-8153-6509-9 (alk. paper)
1. Molecular genetics. I. Title.
QH442.B77 2012
576.5--dc23
2011024255
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 preface

There are so many genetics texts available in the bookshops that the author of
an entirely new one has a duty to explain why his own contribution should be
necessary. In my case the decision to write a genetics text was prompted by my
strong feeling that genetics is today inexorably centered on DNA, and that the
teaching of genetics should reflect this fact. The theme of this book is therefore
the progression from molecules (DNA and genes) to processes (gene expres-
sion and DNA replication) to systems (cells, organisms, and populations). This
progression reflects both the basic logic of life and the way in which mod-
ern biological research is structured. My experience in teaching (and of once
being taught) an introductory course in genetics has led me to believe that this
“molecular approach” enables students who might otherwise be daunted by
the intricacies of genetics to gradually build up their confidence in the subject.
The molecular approach is particularly suitable for the large number of stu-
dents for whom genetics is a part of a broader degree course in, for example,
biology, biochemistry, biomedical sciences, or biotechnology.
The difficulty in attempting to write an introductory textbook, in any subject,
lies in presenting the material in an understandable fashion without falling
into the trap of over-simplification. To be of value the book should ensure that
the basic facts and concepts are grasped by the reader, and yet should pro-
vide a sufficient depth of knowledge to stimulate the student’s interest and to
engender the desire to progress on to more advanced aspects of the subject.
With an introductory text in genetics these objectives are perhaps relatively
easy to attain, as even the most fundamental facts are fascinating and, in my
experience at least, most undergraduates arrive already primed with a curi-
osity about genes. I hope that this book will help to turn that curiosity into a
lifelong pursuit.

Acknowledgments
I would like to thank the reviewers who provided helpful comments on the
original proposal for Introduction to Genetics: A Molecular Approach, and who
gave detailed feedback on chapters from the various iterations that the book
went through before evolving into its final form.
Shivanthi Anandan (Drexel University, USA); Thierry Backeljau (University of
Antwerp, Belgium); Edward L. Bolt (University of Nottingham, UK); Laura C.
Bridgewater (Brigham Young University, USA); John Bright (Sheffield Hallam
University, UK); Kuttalaprakash Chudalayandi (Birla Institute of Technology
and Science, Pilani, India); H. Neval Erturk (Converse College, USA); Bill
Field (Aston University, UK); Paula L. Fischhaber (California State University,
Northridge, USA); Adrian J. Hall (Sheffield Hallam University, UK); Ralph Hillman
(Temple University, USA); Eric A. Hoffman (University of Central Florida, USA);
David T. Kirkpatrick (University of Minnesota, USA); Sarah Lewis (University
of Bristol, UK); Cindy S. Malone (California State University, Northridge, USA);
Patrick H. Masson (University of Wisconsin-Madison, USA); Mike J. McPherson
(University of Leeds, UK); Melissa Michael (University of Illinois at Urbana-
Champaign, USA); Roger L. Miesfeld (University of Arizona, USA); Marcus
Munafò (University of Bristol, UK); Philip Oliver (University of Cambridge, UK);
Christine Rushlow (New York University, USA); Inder Saxena (The University
of Texas at Austin, USA); Stephanie C. Schroeder (Webster University, USA);
vi PREFACE

Robert J. Slater (University of Hertfordshire, UK); Tahar Taybi (Newcastle

University, UK); John J. Taylor (Newcastle University, UK); Jeffrey Townsend
(Yale University, USA); David Veal (University of the West of England, UK);
Jemima Whyte (Stanford University California, UK).
Thanks also go to the many Garland staff who have contributed to the crea-
tion of Introduction to Genetics: A Molecular Approach and have helped convert
my own contribution—words not necessarily in the right order and scribbled
diagrams—into an actual textbook.
Finally, but not least, I would like to thank my wife Keri for putting up with “not
another book.”
Terry Brown
Manchester, UK
 vii

NOTE TO THE READER

I have tried to make Introduction to Genetics: A Molecular Approach as user

friendly as possible. The book therefore includes a number of devices intended
to help the reader and to make the book an effective teaching aid.

Organization of Introduction to Genetics: A Molecular Approach

The book is divided into three parts. In Part I we examine the function of the
gene as a unit of biological information. First, we must become familiar with
the structure of DNA (Chapter 2) and with the way in which genes are organ-
ized within DNA molecules (Chapter 3). Then we will be ready to follow the
process, called gene expression, which results in the information contained in
a gene being utilized by the cell. We will study the way in which DNA is cop-
ied into RNA (Chapter 4), and we will look in detail at the roles in the cell of
the different types of RNA molecule that are made (Chapters 5 and 6). We will
then discover how the genetic code is used to direct the synthesis of protein
molecules whose structures and functions are specified by the information
contained in the genes (Chapters 7 and 8). Finally, we will examine how all
of these events are controlled so that only those genes whose information is
needed are active at a particular time (Chapter 9).
In Part II we will study the role of the gene as a unit of inheritance. To do this,
we will ask three questions. The first is how a complete set of the genes is
passed to the daughter cells when the parent cell divides. We will therefore
study the mechanism by which DNA molecules replicate so that new, identi-
cal copies are made (Chapter 10), and we will examine how DNA molecules,
and the genes that they contain, are passed on to the progeny when an ani-
mal or plant cell divides (Chapter 11), when a bacterium divides (Chapter 12),
and during the infection cycle of a virus (Chapter 13). The second question
concerns the inheritance of genes during sexual reproduction. We will study
how DNA molecules are passed from parents to their offspring (Chapter 14),
and we will investigate how the genes on these DNA molecules specify the
biological characteristics of the offspring in such a way that these offspring
resemble, but are not identical to, their parents (Chapter 15). The third ques-
tion concerns the link between the inheritance of genes and the evolution of
species. To answer this question we will study how the information contained
in a gene can change due to errors that are sometimes made during DNA rep-
lication and as a result of mutation (Chapter 16), and we will examine how the
new gene variants that are created in this way can spread through a popula-
tion (Chapter 17).
In Part III, we will explore some of the areas of research that are responsible
for the high profile that genetics has in our modern world. The first topic that
we will study is the role of genes in development. How do genes control the
pathway that begins with a fertilized egg cell and ends with an adult organ-
ism? Finding the answer to this question is one of the biggest challenges in
all of genetics (Chapter 18). Then we will devote three chapters to our own
species. In Chapter 19 we will look closely at the human genome, and in par-
ticular we will ask what it is about our genome that makes us special. Then
we will look at the ways in which defects in genes can give rise to inherited
diseases such as cystic fibrosis and to cancer (Chapter 20). In Chapter 21 we
will examine how genetic profiles are obtained and why these have become
so important in forensic biology. We will also learn how genetics can be used
to study human evolution and to trace the routes taken by early humans as
viii NOTE TO THE READER

they migrated out of Africa and colonized the globe. We will then look at the
important applications of genetics in industry and agriculture, in the produc-
tion of important pharmaceuticals and in the design of genetically modified
crops (Chapter 22). This will lead us into some of the controversial aspects of
modern genetics. We must not ignore these controversies and so in the final
chapter we will examine some of the ethical issues raised by genetics, and we
will ask how these issues should be debated so that the controversies can be
resolved.

Organization of chapters
The chapters include Research Briefings, Questions and Problems, and Further
Reading lists, all designed to help you in your exploration of genetics.

Research Briefings
Each Research Briefing is a self-contained illustration of the importance of
research in genetics. Some of the Research Briefings describe classic projects
of the past or present, such as the discovery of the structure of DNA by Watson
and Crick in 1953 (Research Briefing 2.1), and the research currently being
carried out on the genetics of Neanderthals (Research Briefing 21.1). A few
describe a single important method or group of techniques, such as the
polymerase chain reaction (Research Briefing 10.2), and the methods used to
map the positions of genes on chromosomes (Research Briefing 15.2). Others
describe research strategies, such as the design of a project to work out in
which cells a particular gene is expressed (Research Briefing 3.1), and the
strategies used to identify a gene that causes an inherited disease (Research
Briefing 20.1). The overall aim of the Research Briefings is to show you how
research in genetics is conducted and how past research has established what
we look on as the “facts” about genetics. Each Research Briefing relates to the
information contained in the chapter in which it is placed, and can be read
as part of that chapter, or the Research Briefings can be studied separately in
order to gain a comprehensive overview of research methods.

Questions and Problems

Each set of Questions and Problems is divided into three sections, designed
to help you in different ways in individual and group study programs. The
first section asks you to define the key terms encountered in a chapter. All the
terms are defined in the Glossary and you should check that you can remember
the definitions yourself; they are provided as flashcards in the online Student
Resources. If you can remember the definitions, then you have an excellent
grasp of the main facts for that particular chapter. You should then move on
to the Self-study Questions, which are aimed to test not just your recall of the
facts, but also your understanding of the concepts behind those facts. Each
Self-study Question can be answered in 50–100 words, or possibly by a table
or annotated diagram. The questions cover the entire content of each chapter
in a fairly straightforward manner. You can check your answers by compar-
ing them with the relevant parts of the text, or by going to the online Student
Resources site where you’ll find either full written answers or hints on how to
answer some questions. You can use the Self-study Questions to work system-
atically through a chapter, or you can select individual ones in order to confirm
that you have the correct understanding of a specific topic.
Finally, there are Discussion Topics. These vary in nature and in difficulty. The
simplest can be answered by a well-directed search of the genetics literature,
the intention being that you advance your learning a few stages from where the
book leaves off. In some cases the questions point you forward to issues that
will be discussed later in the book, to help you see how the basic information
that we deal with in the early chapters is relevant to the more complex topics
 NOTE TO THE READER ix

that we study later on. Other problems require you to evaluate a statement or a
hypothesis, based on your understanding of the material in the book, possibly
supplemented by reading around the subject. These problems are intended to
make you think carefully about the subject, and perhaps to realize for yourself
that often there are hidden complexities that are not immediately apparent.
A few problems are very difficult, in some cases to the extent that there is no
solid answer to the question posed. These are designed to stimulate debate
and speculation, stretching your knowledge and that of your colleagues with
whom you discuss the problems. If you find these discussions stimulating, then
you will know that you have become a real geneticist. Tips to help you with the
Discussion Topics can be found on the online Student Resources site.

Further Reading
The reading lists at the end of each chapter are intended to help you obtain fur-
ther information, for example when writing extended essays or dissertations
on particular topics. In some cases, I have appended a few words summa-
rizing the particular value of each entry, to help you decide which ones you
wish to seek out. The lists are not all-inclusive and I encourage you to spend
some time searching your library and the internet for other books and articles.
Browsing is an excellent way to discover interests that you never realized you
had!

Glossary
I am very much in favor of glossaries as learning aids and I have provided an
extensive one for Introduction to Genetics: A Molecular Approach. Every term
that is highlighted in bold in the text is defined in the Glossary, along with a
number of additional terms that you might come across when referring to
books or articles in the Further Reading sections. An online version of the
glossary can also be found on the Student Resources site.

Student and Instructor Resources Websites

Accessible from www.garlandscience.com, these websites provide learning
and teaching tools created for Introduction to Genetics: A Molecular Approach.
The Student Resources site is open to everyone, and users have the option to
register in order to use book-marking and note-taking tools. The Instructor
Resources site requires registration and access is available only to qualified
instructors. To access the Instructor Resources site, please contact your local
sales representative or email [email protected].
Below is an overview of the resources available for this book. On the website,
the resources may be browsed by individual chapters and there is a search
engine. You can also access the resources available for other Garland Science
titles.

Student Resources
The following resources are available on the Student Resources site:

Animations and Videos

Animations and videos have been carefully selected and created to dynami-
cally illustrate important concepts from the book, and make many of the more
difficult topics accessible.

Quizzes
Each chapter contains a multiple-choice quiz, written by Sheryl L. Fuller-Espie,
Cabrini College (USA), to test comprehension.
x NOTE TO THE READER

Flashcards
Each chapter contains a set of flashcards that allow students to review key
terms from the text. The flashcards form the answers to the definition questions.

Self-study Questions and Discussion Topics

Answers to, or hints on how to answer, the Self-study Questions and Discussion
Topics at the end of each chapter are given.

Glossary
The complete glossary from the book is available on the website and can be
searched and browsed as a whole or sorted by chapter.

Instructor Resources
The following resources are available on the Instructor Resources site:

The Art of Introduction to Genetics

The images from the book are available in two convenient formats: MS
PowerPoint® and JPEG. They have been optimized for display on a computer.
Figures are searchable by figure number, figure name, or by keywords used in
the figure legend from the book.

Animations and Videos

The animations and videos that are available to students are also available on
the Instructor Resources website in two formats. The WMV formatted movies
are created for instructors who wish to use the movies in PowerPoint pres-
entations on Windows® computers; the QuickTime formatted movies are for
use in PowerPoint for Apple computers or Keynote® presentations. The mov-
ies can easily be downloaded to your PC using the “download” button on the
movie preview page.

Instructor’s Lecture Outlines

The section headings, concept headings, and figures from the text have been
integrated into PowerPoint presentations.

Question Bank
Written by Sheryl L. Fuller-Espie, Cabrini College (USA), the question bank
contains over 400 multiple-choice, fill-in-the-blank, matching, true-false, and
written-answer questions that can be used for creating tests, quizzes, or ques-
tions for personal response systems (that is, “clickers”). The question bank is
available in MS Word® format and pre-loaded into Diploma® generator soft-
ware, which is fully compatible with the major course management systems.
Questions are organized by chapter and type, and can be additionally cat-
egorized by the instructor according to difficulty or subject. Diploma software
allows questions to be scrambled (to create multiple tests) and edited, and
new questions to be added.

PowerPoint and Word are registered trademarks of Microsoft Corporation in the United
States and/or other countries.
Keynote is a registered trademark of Apple, Inc. in the United States and/or other
countries.
Diploma is a registered trademark of Wimba, Inc. in the United States and/or other
countries.
 xi

Contents

Chapter 1 The Scope of Modern Genetics 1

Part I GENES AS UNITS OF BIOLOGICAL INFORMATION 10

Chapter 2 DNA 11
Chapter 3 Genes 31
Chapter 4 Transcription of DNA to RNA 49
Chapter 5 Types of RNA Molecule: Messenger RNA 75
Chapter 6 Types of RNA Molecule: Noncoding RNA 95
Chapter 7 The Genetic Code 113
Chapter 8 Protein Synthesis 133
Chapter 9 Control of Gene Expression 157

Part II GENES AS UNITS OF INHERITANCE 186

Chapter 10 DNA Replication 187
Chapter 11 Inheritance of Genes During Eukaryotic Cell Division 211
Chapter 12 Inheritance of Genes in Bacteria 235
Chapter 13 Inheritance of Genes During Virus Infection Cycles 255
Chapter 14 Inheritance of DNA Molecules During Eukaryotic
Sexual Reproduction 275
Chapter 15 Inheritance of Genes During Eukaryotic Sexual
Reproduction 289
Chapter 16 Mutation and DNA Repair 313
Chapter 17 Inheritance of Genes in Populations 339

PART III GENETICS IN OUR MODERN WORLD 364

Chapter 18 Genes in Differentiation and Development 365
Chapter 19 The Human Genome 391
Chapter 20 Genes and Medicine 413
Chapter 21 DNA in Forensics and Studies of Human History 437
Chapter 22 Genes in Industry and Agriculture 463
Chapter 23 The Ethical Issues Raised by Modern Genetics 485
DETAILED CONTENTS

Chapter 1 The Scope of Modern Genetics 1 Chapter 3 Genes 31

1.1 What Is Genetics? 1 3.1 The nature of the information
Genes are units of biological information 1 contained in genes 31
The biological information in genes is read by the Genes are segments of DNA molecules 31
process called gene expression 2 Genes contain instructions for making RNA and protein
The expression of individual genes can be switched molecules 32
on and off 3 Protein synthesis is the key to expression of biological
Genes are also units of inheritance 3 information 33
Children inherit genes from their parents 4 The RNA molecules that are not translated into
protein are also important 35
The inheritance of genes underlies evolution 5
1.2 Genetics in Our Modern World 6 3.2 Variations in the information content
of individual genes 37
Key concepts 8 Genetic variants are called alleles 38
There may be many variants of the same gene 39
Part I GENES AS UNITS OF BIOLOGICAL 3.3 Families of genes 40
INFORMATION 10 Multiple gene copies enable large amounts of RNA
to be synthesized rapidly 40
Chapter 2 DNA 11 In some multigene families the genes are active at
different stages in development 41
2.1 The structure of DNA 11
Nucleotides are the basic units of a DNA molecule 11 Research Briefing 3.1 Studying the
expression profile of a gene 42
Nucleotides join together to make a polynucleotide 13
The globin families reveal how genes evolve 44
In living cells, DNA is a double helix 14
The double helix exists in several different forms 15 Key concepts 46
Research Briefing 2.1 The discovery of Questions and Problems 47
the double helix 16 Further Reading 48
2.2 The molecular explanation of the
biological role of DNA 19
Biological information is contained in the nucleotide Chapter 4 Transcription of DNA
sequence of a DNA molecule 19 to RNA 49
Complementary base pairing enables DNA molecules to
4.1 Gene expression in different types
replicate 20
of organisms 49
2.3 How DNA is sequenced 21 There are three major groups of organisms 49
Clone libraries contain DNA fragments ready to be Gene expression is more than simply “DNA makes
sequenced 21 RNA makes protein” 52
Each fragment in a clone library is individually
sequenced 22 4.2 Enzymes for making RNA 54
Capillary gel electrophoresis is used to read the The RNA polymerase of Escherichia coli comprises five
sequence 23 subunits 55
Eukaryotes possess more complex RNA polymerases 55
Research Briefing 2.2 Genes are made
of DNA 24 4.3 Recognition sequences for
transcription initiation 56
Key Concepts 27
Bacterial RNA polymerases bind to promoter sequences 56
Questions and Problems 27 Eukaryotic promoters are more complex 57
Further Reading 29 Some eukaryotic genes have more than one promoter 58
 detailed CONTENTS xiii

4.4 Initiation of transcription in bacteria Chapter 6 Types of RNA Molecule:

and eukaryotes 59 Noncoding RNA 95
The s subunit recognizes the bacterial promoter 60
6.1 Ribosomal RNA 95
Formation of the RNA polymerase II initiation complex 60
Ribosomes and their components were first studied
Initiation of transcription by RNA polymerases I by density gradient centrifugation 95
and III 61
Understanding the fine structure of the ribosome 97
4.5 The elongation phase of transcription 63 Electron microscopy and X-ray crystallography have
Bacterial transcripts are synthesized by the RNA revealed the three-dimensional structure of the
polymerase core enzyme 64 ribosome 98
All eukaryotic mRNAs have a modified 5’ end 64 6.2 Transfer RNA 100
Some eukaryotic mRNAs take hours to synthesize 66 All tRNAs have a similar structure 100
4.6 Termination of transcription 67 6.3 Processing of precursor rRNA
Hairpin loops in the RNA are involved in termination and tRNA molecules 101
of transcription in bacteria 67
Ribosomal RNAs are transcribed as long precursor
Eukaryotes use diverse mechanisms for termination molecules 102
of transcription 69
Transfer RNAs are also cut out of longer transcription
Key concepts 70 units 104
Questions and Problems 71 Transfer RNAs display a diverse range of chemical
modifications 104
Further Reading 73 Ribosomal RNAs are also modified, but less extensively 105
6.4 Removal of introns from pre-rRNAs
Chapter 5 Types of RNA Molecule: and pre-tRNAs 106
Messenger RNA 75 Some rRNA introns are enzymes 107
Some eukaryotic pre-tRNAs contain introns 109
5.1 Transcriptomes 76
Transcriptomes are studied by microarray analysis 76 Key concepts 109
Transcriptome analysis has been important in Questions and Problems 110
cancer studies 77 Further Reading 111
Research Briefing 5.1 ’Omes 78
The composition of a transcriptome can change over Chapter 7 The Genetic Code 113
time 80
7.1 Protein structure 113
There are various pathways for nonspecific mRNA
Amino acids are linked by peptide bonds 113
turnover 81
There are four levels of protein structure 115
Individual mRNAs in eukaryotes are degraded by
the Dicer protein 83 The amino acid sequence is the key to protein structure 117
Amino acid sequence also determines protein function 118
5.2 Removal of introns from eukaryotic
mRNAs 84 7.2 The genetic code 119
Intron–exon boundaries are marked by special There is a colinear relationship between a gene and
sequences 85 its protein 119
The splicing pathway 86 Each codeword is a triplet of nucleotides 120
It is still not clear how errors are avoided during The genetic code is degenerate and includes
splicing 88 punctuation codons 121
Alternative splicing is common in many eukaryotes 88 The genetic code is not universal 123
Trans-splicing links exons from different transcripts 90 Research Briefing 7.1 The genetic code 124
5.3 Editing of mRNAs 91 7.3 The role of tRNAs in protein synthesis 126
There are various types of RNA editing 91 Aminoacyl-tRNA synthetases attach amino acids
Key concepts 92 to tRNAs 126
Unusual types of aminoacylation 127
Questions and Problems 93
The mRNA sequence is read by base pairing between
Further Reading 94 the codon and anticodon 129
xiv detailed CONTENTS

Key concepts 130 9.3 Regulation of transcription initiation

in eukaryotes 168
Questions and Problems 131
RNA polymerase II promoters are controlled by a
Further Reading 132 variety of regulatory sequences 168
Research Briefing 9.1 Proteins that bind
Chapter 8 Protein Synthesis 133 to DNA 170
Signals from outside the cell must be transmitted to
8.1 The role of the ribosome in protein the nucleus in order to influence gene expression 172
synthesis 133
The RNA polymerase II initiation complex is activated
Initiation in bacteria requires an internal ribosome via a mediator protein 174
binding site 133
9.4 Other strategies for regulating gene
Research Briefing 8.1 Studying the expression 175
proteome 136
Modification of the bacterial RNA polymerase enables
Initiation in eukaryotes is mediated by the cap different sets of genes to be expressed 175
structure and poly(A) tail 138
Transcription termination signals are sometimes
Translation of a few eukaryotic mRNAs initiates ignored 176
without scanning 140
Attenuation is a second control strategy targeting
Elongation of the polypeptide begins with formation transcription termination 179
of the first peptide bond 140
Bacteria and eukaryotes are both able to regulate
Elongation continues until a termination codon is the initiation of translation 180
reached 142
Termination requires special release factors 142 Key concepts 182
8.2 Post-translational processing Questions and ProblemS 183
of proteins 144 Further Reading 185
Some proteins fold spontaneously in the test tube 144
Inside cells, protein folding is aided by molecular
chaperones 146
Part II GENES AS UNITS OF
Some proteins are chemically modified 148
INHERITANCE 186
Some proteins are processed by proteolytic cleavage 150 Chapter 10 DNA Replication 187
8.3 Protein degradation 152
10.1 The overall pattern of DNA replication 187
There are various protein degradation pathways, but
DNA replicates semiconservatively, but this causes
it is not clear how specific proteins are targeted 152
topological problems 187
Key concepts 153 DNA topoisomerases solve the topological problem 189
Questions and Problems 154 Variations on the semiconservative theme 191
Further Reading 155 Research Briefing 10.1 DNA replication is
semiconservative 192
10.2 DNA polymerases 194
Chapter 9 Control of Gene Expression 157
DNA polymerases synthesize DNA but can also
9.1 The importance of gene regulation 157 degrade it 194
Gene regulation enables bacteria to respond to Bacteria and eukaryotes possess several types of
changes in their environment 158 DNA polymerase 196
Gene regulation in eukaryotes must be responsive The limitations of DNA polymerase activity cause
to more sophisticated demands 159 problems during replication 197
The underlying principles of gene regulation are Research Briefing 10.2 The polymerase
the same in all organisms 160 chain reaction 198
9.2 Regulation of transcription initiation 10.3 DNA replication in bacteria 201
in bacteria 162 E. coli has a single origin of replication 201
Four genes are involved in lactose utilization by
E. coli 162 The elongation phase of bacterial DNA replication 202
The regulatory gene codes for a repressor protein 164 Replication of the E. coli genome terminates within
Glucose also regulates the lactose operon 165 a defined region 204
Operons are common features in prokaryotic genomes 167 10.4 DNA replication in eukaryotes 205
 detailed CONTENTS xv

Eukaryotic genomes have multiple replication origins 205 The E. coli nucleoid contains supercoiled DNA
The eukaryotic replication fork: variations on the attached to a protein core 236
bacterial theme 206 Plasmids are independent DNA molecules within
a bacterial cell 237
Little is known about termination of replication in Plasmids can be classified according to the genes
eukaryotes 207 they carry 238
Key concepts 208 A single bacterium can have multiple copies of the
same or different plasmids 239
Questions and Problems 209
How daughter cells acquire copies of the bacterial
Further Reading 210 chromosome and plasmids is not well understood 240
12.2 Variations on the E. coli theme 241
Chapter 11 Inheritance of Genes Bacterial genomes vary greatly in size, and some
During Eukaryotic Cell Division 211 are linear DNA molecules 241
Some bacteria have multipartite genomes 242
11.1 Genomes and chromosomes 211 12.3 Transfer of genes between bacteria 243
Eukaryotic genomes are contained in chromosomes 211 Plasmids can be transferred between bacteria by
Chromosomes contain DNA and proteins 213 conjugation 244
Chromosomal genes can also be transferred during
Histones are constituents of the nucleosome 214
conjugation 246
Nucleosomes associate to form the 30-nm chromatin Bacterial genes can also be transferred without contact
fiber 216 between donor and recipient 246
How DNA is packaged into more compact chromosome
Research Briefing 12.1 Using conjugation
structures is poorly understood 217 to map genes in bacteria 248
11.2 The special features of metaphase Transferred bacterial DNA can become a permanent
chromosomes 218 feature of the recipient’s genome 250
Individual metaphase chromosomes have distinct Key concepts 252
morphologies 218 Questions and Problems 252
Centromeres contain repetitive DNA and modified Further Reading 254
nucleosomes 219
Telomeres protect chromosome ends 219
Chromosomes should get progressively shorter during
Chapter 13 Inheritance of Genes
multiple rounds of replication 221
During Virus Infection Cycles 255
11.3 The cell cycle 223 13.1 Bacteriophages 255
Bacteriophages have diverse structures and equally
Research Briefing 11.1 Telomerase, diverse genomes 255
senescence, and cancer 224 The lytic infection cycle of bacteriophage T4 257
There are four phases within the cell cycle 226 The lytic infection cycle is regulated by expression
DNA replication must be coordinated with the rest of early and late genes 259
of the cell cycle 226 The lysogenic infection cycle of bacteriophage l 260
Control can also be exerted during S phase 227 Many genes are involved in establishment and
Mitosis ensures the correct partitioning of maintenance of lysogeny 261
chromosomes 229 There are some unusual bacteriophage life cycles 263
Key concepts 231 13.2 Viruses of eukaryotes 263
Questions and Problems 232 Eukaryotic viruses have diverse structures and
infection strategies 263
Further Reading 233 Viral retroelements integrate into the host-cell DNA 265
Some retroviruses cause cancer 266
Chapter 12 Inheritance of Genes in Research Briefing 13.1 Reconstruction
Bacteria 235 of the 1918 influenza virus 268
12.1 Inheritance of genes in E. coli 236 13.3 Toward and beyond the edge of life 270
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There are cellular versions of viral retroelements 270 Epistasis is an interaction in which alleles of one
Satellite RNAs, virusoids, viroids, and prions are gene mask the effect of a second gene 299
all probably beyond the edge of life 271 Interactions between multiple genes result in
quantitative traits 300
Key concepts 272
15.3 Inheritance of genes located on the
Questions and Problems 273
same chromosome 301
Further Reading 274 Crossing over results in gametes with recombinant
genotypes 302
Chapter 14 Inheritance of DNA The frequency of recombinants enables the map
positions of genes to be worked out 302
Molecules During Eukaryotic Sexual
In practice, gene mapping requires planned breeding
Reproduction 275 experiments or pedigree analysis 304
14.1 Inheritance of DNA molecules during Gene mapping in humans is carried out by
meiosis 276 pedigree analysis 305
Meiosis requires two successive cell divisions 276 Research Briefing 15.2 Mapping genes
During meiosis I, bivalents are formed between in eukaryotes 306
homologous chromosomes 277 Key concepts 309
Formation of bivalents ensures that siblings are Questions and Problems 309
not identical to one another 278
Further Reading 311
Recombination occurs between homologous
chromosomes within a bivalent 280
14.2 The molecular basis of recombination 281 Chapter 16 Mutation and DNA Repair 313
Homologous recombination begins with formation of 16.1 The causes of mutations 313
a DNA heteroduplex 282 Errors in replication are a source of point mutations 315
Cleavage of the Holliday structures results in Replication errors can also lead to insertion and
recombination 283 deletion mutations 317
The biochemical pathways for homologous Mutagens are one type of environmental agent that
recombination have been studied in E. coli 284 causes damage to cells 318
The biochemical basis of recombination in eukaryotes There are many types of chemical mutagens 319
is less well understood 285
There are also several types of physical mutagens 322
Key concepts 286
16.2 DNA repair 323
Questions and Problems 286 Direct repair systems fill in nicks and correct some
Further Reading 287 types of nucleotide modification 324
Many types of damaged nucleotide can be repaired
by base excision 325
Chapter 15 Inheritance of Genes Nucleotide excision repair is used to correct more
During Eukaryotic Sexual Reproduction 289 extensive types of damage 326
15.1 Relationships between pairs of alleles 289 Mismatch repair corrects errors of replication 327
The allele for round peas is dominant over the one DNA breaks can also be repaired 328
for wrinkled peas 290 In an emergency, DNA damage can be bypassed
Some pairs of alleles display incomplete dominance 291 during genome replication 330
Defects in DNA repair underlie human diseases,
Research Briefing 15.1 Mendel’s discovery including cancers 330
of the First Law of Genetics 292 16.3 The effects of mutations on genes,
Lethal alleles result in death of a homozygote 294 cells, and organisms 331
Some alleles are codominant 295 Mutations have various effects on the biological
15.2 Interactions between alleles of information contained in a gene 331
different genes 296 Mutations have various effects on multicellular
Functional alleles of interacting genes can have organisms 332
additive effects 297 A second mutation may reverse the phenotypic effect
Important interactions occur between genes controlling of an earlier mutation 335
different steps in a biochemical pathway 299 Key concepts 336