Concepts of genetics:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
San Francisco, Calif. [u.a.]
Pearson Education
2009
|
| Ausgabe: | 9. ed. ; international ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Bis 8. Aufl. u.d.T.: Klug, William S.: Concepts of genetics |
| Beschreibung: | getr. Zähl. Ill., graph. Darst. |
| ISBN: | 0321540980 9780321540980 |
Internformat
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| 245 | 1 | 0 | |a Concepts of genetics |c William S. Klug ... |
| 246 | 1 | 3 | |a Genetics |
| 250 | |a 9. ed. ; international ed. | ||
| 264 | 1 | |a San Francisco, Calif. [u.a.] |b Pearson Education |c 2009 | |
| 300 | |a getr. Zähl. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Bis 8. Aufl. u.d.T.: Klug, William S.: Concepts of genetics | ||
| 650 | 4 | |a Genetics | |
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Datensatz im Suchindex
| _version_ | 1804137713674223616 |
|---|---|
| adam_text | Brief
Contents
PART ONE
GENES, CHROMOSOMES,
AND HEREDITY
ι
2
3
4
5
6
7
8
7
Introduction to Genetics
Mitosis and Meiosis
18
Mendelian Genetics
42
Extensions of Mendelian Genetics
70
Chromosome Mapping in Eukaryotes
705
Genetic Analysis and Mapping in Bacteria and
Bacteriophages
143
Sex Determination and Sex Chromosomes
173
Chromosome Mutations: Variation in Chromosome
Number and Arrangement
198
Extranuclear Inheritance
227
PART TWO
DNA:
STRUCTURE,
REPLICATION, AND VARIATION
10 DNA
Structure and Analysis
245
11 DNA
Replication and Recombination
278
12 DNA
Organization in Chromosomes
302
13
Recombinant
DNA
Technology
and Gene Cloning
322
PART THREE
GENE EXPRESSION,
REGULATION, AND
DEVELOPMENT
14
The Genetic Code and Transcription
352
15
Translation and Proteins
381
16
Gene Mutation and
DNA
Repair
410
17
Regulation of Gene Expression in Prokaryotes
435
Regulation of Gene Expression in Eukaryotes
457
Developmental Genetics of Model Organisms
484
18
19
PART FOUR
GENOMICS
21
Genomics, Bioinformatics, and Proteomics
537
22
Genome Dynamics:
Transposons, Immunogenetics,
and Eukaryotic Viruses
574
23
Genomic Analysis—Dissection of Gene Function
605
24
Applications and Ethics of Genetic Engineering
and Biotechnology
633
PART FIVE
GENETICS OF ORGANISMS
AND POPULATION
25
Quantitative Genetics and Multifactorial Traits
668
26
Genetics and Behavior
688
27
Population Genetics
710
28
Evolutionary Genetics
737
29
Conservation Genetics
762
Appendix A Glossary A-1
Appendix
В
Answers to Selected Problems A
-18
Appendix
С
Selected Readings A-57
Credits C-1
Index
1-і
20
Cancer and Regulation of the Cell Cycle
57 7
viii
Contents
Preface
xxvi
PART ONE
GENES, CHROMOSOMES,
AND HEREDITY
1
Introduction to Genetics
7
1.1
Genetics Progressed from Mendel to
DNA
in Less Than a Century
2
Mendel s Work on Transmission of Traits
2
The Chromosome Theory of Inheritance:
Uniting Mendel and Meiosis
3
Genetic Variation
4
The Search for the Chemical Nature of Genes:
DNA
or Protein?
.
1.2
Discovery of the Double Helix Launched the Era of
Molecular Genetics
5
The Structure of
DNA
and
RNA
5
Gene Expression: From
DNA
to Phenotype
5
Proteins and Biological Function
6
Linking Genotype to Phenotype: Sickle-Cell Anemia
7
1.3
Development of
Recombinant
DNA
Technology Began
the Era of Cloning
8
1.4
The Impact of Biotechnology Is
Continually Expanding
8
Plants, Animals, and the Food Supply
9
Who Owns Transgenic Organisms?
9
Biotechnology in Genetics and Medicine
10
1.5
Genomics, Proteomics, and Bioinformadcs Are New
and Expanding Fields
10
1.6
Genetic Studies Rely on the Use of
Model Organisms
12
The Modem Set of Genetic Model Organisms
12
Model Organisms and Human Diseases
13
1.7
We Live in the Age of Genetics
14
The Nobel Prize and Genetics
14
Genetics and Society
15
Щ
GENETICS, TECHNOLOGY, AND SOCIETY
Genetics and Society: The Application and Impact of Science and
Technology
75
■
EXPLORING GENOMICS
Internet Resources for Learning about the Genomes of Model
Organisms
16
Chapter Summary
17
Problems and Discussion Questions
17
Mitosis and Meiosis
18
2.1
Cell Structure Is Closely Tied to Genetic Function
2.2
Chromosomes Exist in Homologous Pairs
in Diploid Organisms
21
2.3
Mitosis Partitions Chromosomes into
Dividing Cells
23
Interphase
and the Cell Cycle
24
Prophase
24
Prometaphase
and Metaphase
25
Anaphase 25
Telophase
26
Cell-Cycle Regulation and Checkpoints
27
19
CONTENTS
2.4
Meiosis
Reduces the
Chromosome
Number from
Diploid
to Haploid in Germ Cells and
Spores
28
An
Overview of Meiosis
28
The First Meiotic Division: Prophase
I
28
Metaphase,
Anaphase,
and Telophase
I
31
The Second Meiotic Division
31
2.5
The Development
of Gametes
Varies in
Spermatogenesis
Compared to
Oogénesis
31
2.6
Meiosis
Is Critical to the Successful Sexual Reproduction
of All Diploid Organisms
32
2.7
Electron Microscopy Has Revealed the Physical
Structure of Mitotic and Meiotic Chromosomes
34
The Synaptonemal Complex
36
■
GENETICS, TECHNOLOGY, AND SOCIETY
Breast Cancer: The Double-Edged Sword of Genetic Testing
■
EXPLORING GENOMICS
PubMed: Exploring and Retrieving
Biomedical
Literature
Chapter Summary
38
Insights and Solutions
39
Problems and Discussion Questions
40
Extra-Spicy Problems
47
37
38
■3
3.1
Mendelian Genetics
42
Mendel Used a Model Experimental Approach to Study
Patterns of Inheritance
43
3.2
The
Monohybrid
Cross Reveals How One Trait Is
Transmitted from Generation to Generation
43
Mendel s First Three Postulates
45
Modern Genetic Terminology
45
Mendel s Analytical Approach
45
Punnett Squares
46
The Testcross: One Character
46
3.3
Mendel s Dihybrid Cross Generated a Unique
F2 Ratio
47
Mendel s Fourth Postulate: Independent Assortment
47
| How Mendel s Peas Become Wrinkled:
A Molecular Explanation
48
The Testcross: Two Characters
49
ЗЛ
The Trihybrid Cross Demonstrates That Mendel s
Principles Apply to Inheritance of Multiple Traits
49
The Forked-Line Method, or Branch Diagram
50
3.S Mendel s Work Was Rediscovered in the Early
Twentieth Century
52
3.6
The Correlation of Mendel s Postulates with the Behavior
of Chromosomes Provided the Foundation of Modern
Transmission Genetics
52
The Chromosomal Theory of Inheritance
52
Unit Factors, Genes, and Homologous Chromosomes
52
3.7
Independent Assortment Leads to Extensive
Genetic Variation
54
3.8
Laws of Probability Help to Explain Genetic Events
54
Conditional Probability
55
The Binomial Theorem
55
3.9
Chi-Square Analysis Evaluates the Influence of Chance
on Genetic Data
56
Chi-Square Calculations and the Null Hypothesis
57
Interpreting Probability Values
58
3.10
Pedigrees Reveal Patterns of Inheritance
of Human Traits
59
Pedigree Conventions
59
Pedigree Analysis
60
■
GENETICS, TECHNOLOGY, AND SOCIETY
Тау
-Sachs Disease: The Molecular Basis of a Recessive Disorder in
Humans
61
■
EXPLORING GENOMICS
Online Mendelian Inheritance in Man
62
Chapter Summary
63
Insights and Solutions
63
Problems and Discussion Questions
66
Extra-Spicy Problems
68
4
Extensions of Mendelian Genetics
70
4.1
Alíeles
Alter Phenotypes in Different Ways
71
42
Geneticists Use a Variety of Symbols for
Alíeles
72
43
Neither
Alíele
Is Dominant in Incomplete, or Partial,
Dominance
72
4.4
In Codominance, the Influence of Both
Alíeles
in a
Hétérozygote
Is Clearly Evident
73
4.5
Multiple
Alíeles
of a Gene May Exist
in a Population
74
The ABO Blood Groups
74
The A and
В
Antigens
75
The Bombay Phenotype
76
The white Locus in
Drosophila
76
CONTENTS
Insights and Solutions
97
Problems and Discussion Questions
Extra-Spicy Problems
702
98
Chromosome Mapping
in Eukaryotes
105
4.6
Lethal
Alíeles
Represent Essential Genes
77
Recessive Lethal Mutations
77
Dominant Lethal Mutations
78
4.7
Combinations of Two Gene Pairs with Two Modes of
Inheritance Modify the
9:3:3:1
Ratio
78
4.8
Phenotypes Are Often Affected by More
Than One Gene
79
Epistasis
79
Novel Phenotypes
82
Other Modified Dihybrid Ratios
84
4.9
Complementation Analysis Can Determine If Two
Mutations Causing a Similar Phenotype Are
Alíeles
84
4.10
Expression of a Single Gene
May Have Multiple Effects
84
4.11
Х
-Linkage Describes Genes on the X Chromosome
85
X-Linkage in
Drosophila
86
Х
-Linkage in Humans
86
И
Lesch-Nyhan Syndrome: The Molecular Basis of a Rare X-Linked
Recessive Disorder
88
4.12
In Sex-Limited and Sex-Influenced Inheritance, an
Individual s Sex Influences the Phenotype
89
4.13
Genetic Background and the Environment May Alter
Phenotypic Expression
90
Penetrance
and Expressivity
90
Genetic Background: Suppression and Position Effects
91
Temperature Effects—An Introduction to Conditional Mutations
91
Nutritional Effects
92
Onset of Genetic Expression
92
Genetic Anticipation
93
Genomic (Parental) Imprinting
93
■
GENETICS, TECHNOLOGY, AND SOCIETY
Improving the Genetic Fate of Purebred Dogs
94
■
EXPLORING GENOMICS
The Human Epigenome Project
95
Chapter Summary
96
5.1
Genes Linked on die Same Chromosome
Segregate Togedier
706
The Linkage Ratio
707
5.2
Crossing Over Serves as the Basis for Determining
the Distance between Genes in Chromosome
Mapping
709
Morgan and Crossing Over
709
Sturtevant and Mapping
709
Single Crossovers
7 7 7
53
Determining the Gene Sequence during Mapping Requires
the Analysis of Multiple Crossovers
712
Multiple Exchanges
772
Three-Point Mapping in
Drosophila
113
Determining the Gene Sequence
7 75
A Mapping Problem in Maize
716
ЅЛ
Interference Affects die Recovery
of Multiple Exchanges
7 79
5.5
As die Distance between Two Genes Increases,
the Results of Mapping Experiments Become
Less Accurate
720
5.6
Drosophila
Genes Have Been Extensively Mapped
727
5.7
Lod
Score Analysis and Somatic Cell Hybridization
Were Historically Important in Creating Human
Chromosome Maps
727
5.8
Chromosome Mapping Is Now Possible Using
DNA
Markers and Annotated Computer Databases
724
5.9
Crossing Over Involves a Physical Exchange between
Chromatids
725
5.10
Recombination Occurs between
M
і
to tic
Chromosomes
725
5.11
Exchanges Also Occur between Sister Chromatids
726
5.12
Linkage and Mapping Studies Can Be Performed in
Haploid Organisms
727
Gene-to-Centromere Mapping
729
Ordered versus Unordered Tetrad Analysis
730
Linkage and Mapping
730
CONTENTS
5.13
Did Mendel Encounter Linkage?
133
| Why Didn t
Gregor
Mendel Find Linkage?
133
■
EXPLORING GENOMICS
Human Chromosome Maps on the Internet
Chapter Summary
735
Insights and Solutions
735
Problems and Discussion Questions
737
Extra-Spicy Problems
747
134
Љ
6.1
Genetic Analysis and Mapping
in Bacteria and Bacteriophages
143
Bacteria Mutate Spontaneously and Grow
at an Exponential Rate
144
6.2
Conjugation Is One Means of Genetic Recombination
in Bacteria
145
F+ and
F
Bacteria
746
Hfr Bacteria and Chromosome Mapping
747
Recombination in F+ X
F
Matings:
A Reexaminaron
757
The F State and Merozygotes
757
6.3
Rec
Proteins Are Essential to Bacterial
Recombination
757
6.4
The
F
Factor Is an Example of a Plasmid
753
6.5
Transformation Is Another Process Leading to Genetic
Recombination in Bacteria
753
The Transformation Process
754
Transformation and Linked Genes
755
6.6
Bacteriophages Are Bacterial Viruses
755
Phage T4: Structure and Life Cycle
755
The Plaque Assay
756
Lysogeny
757
6.7
Transduction Is Virus-Mediated Bacterial
DNA
Transfer 75S
The Lederberg-Zinder Experiment
758
The Nature ofTransduction
755
Transduction and Mapping
760
6.8
Bacteriophages Undergo Intergenic
Recombination
160
Bacteriophage Mutations
760
Mapping in Bacteriophages
767
6.9
Intragenic Recombination Occurs in Phage T4
767
The rll Locus of Phage T4
762
Complementation by rll Mutations
Recombinational Analysis
763
Deletion Testing of the rll Locus
763
The rll Gene Map
764
GENETICS, TECHNOLOGY, AND SOCIETY
Bacterial Genes and Disease: From Gene Expression to Edible
Vaccines
766
767
■
EXPLORING GENOMICS
Microbial Genome Program (MGP)
Chapter Summary
168
Insights and Solutions
168
Problems and Discussion Questions
769
Extra-Spicy Problems
777
r7
Sex Determination
and Sex Chromosomes
173
162
7.1
Life Cycles Depend on Sexual Differentiation
774
Chlamydomonas
174
Zea
mays
175
Caenorhabditis
elegans
7 76
7.2
X and
Y
Chromosomes Were First Linked to Sex
Determination Early in the Twentieth Century
777
73
The
Y
Chromosome Determines Maleness
in Humans
775
Klinefelter and Turner Syndromes 77S
47,XXX Syndrome 7S0
47,XYY Condition
7
SO
Sexual Differentiation in Humans 7S7
The
Y
Chromosome and Male Development
182
CONTENTS
xiii
7.4 The Ratio
of
Males
to Females in Humans
Is Not
1.0 183
7.5
Dosage Compensation Prevents Excessive
Expression of X-Linked Genes in Humans
and Other Mammals
184
Barr
Bodies
784
The
Lyon
Hypothesis
185
The Mechanism of Inactivation
186
7.6
The Ratio of X Chromosomes to Sets of
Autosomes
Determines Sex in
Drosophila
187
Dosage Compensation in
Drosophila
189
Drosophila
Mosaics
790
7.7
Temperature Variation Controls Sex Determination
in Reptiles
190
■
GENETICS, TECHNOLOGY, AND SOCIETY
A Question of Gender: Sex Selection in Humans
792
■
EXPLORING GENQMICS
The Ovarian Kaleidoscope Database (OKDB)
Chapter Summary
794
Insights and Solutions
794
Problems and Discussion Questions
794
Extra-Spicy Problems
795
793
8.1
8.2
8.4
Chromosome Mutations:
Variation in Chromosome Number
and Arrangement
795
Specific Terminology Describes Variations
in Chromosome Number
799
Variation in the Number of Chromosomes Results
from Nondisjunction
799
Monosomy, the Loss of a Single Chromosome, May
Have Severe Phenotypic Effects
200
Trisomy Involves the Addition of a Chromosome to a
Diploid Genome
200
Down Syndrome
207
Patau Syndrome
203
Edwards Syndrome
204
Viability in Human Aneuploidy
204
Polyploidy, in Which More Than Two Haploid Sets of
Chromosomes Are Present, Is Prevalent in Plants
205
Autopolyploidy
205
Allopolyploidy
206
Endopolyploidy
208
8.5
Variation Occurs in the Internal Composition and
Arrangement of Chromosomes
208
8.6
A Deletion Is a Missing Region of a Chromosome
209
Cri
du Chat
Syndrome in Humans
270
Drosophila
Heterozygous for Deficiencies May Exhibit
Pseudodominance
270
8.7
A Duplication Is a Repeated Segment of the Genetic
Material
27 7
Gene Redundancy and Amplification: Ribosomal
RNA
Genes
27 7
The Bar Mutation in
Drosophila
212
The Role of Gene Duplication in Evolution
273
Ц
Copy Number Variants (CNVs)—Duplications and Deletions of
Specific
DNA
Sequences
274
8.8
Inversions Rearrange the Linear Gene Sequence
274
Consequences
ofinversions
during Gamete Formation
275
Position Effects
ofinversions
276
Evolutionary Advantages
ofinversions
277
8.9
Translocations
Alter the Location of Chromosomal
Segments in the Genome
277
Translocations
in Humans: Familial Down Syndrome
278
8.10
Fragile Sites in Humans Are Susceptible to
Chromosome Breakage
278
Fragile X Syndrome (Martin-Bell Syndrome)
279
■
GENETICS, TECHNOLOGY, AND SOCIETY
The Link between Fragile Sites and Cancer
220
■
EXPLORING GENOMICS
Atlas of Genetics and Cytogenetics in Oncology
and Haematology
227
Chapter Summary
222
Insights and Solutions
223
Problems and Discussion Questions
224
Extra-Spicy Problems
225
r9
9.1
9.2
Extranuclear Inheritance
227
Organelle
Heredity Involves
DNA in
Chloroplasts and Mitochondria
228
Chloroplasts: Variegation in Four O clock Plants
228
Chloroplast Mutations in Chlamydomonas
228
Mitochondrial Mutations: The Case of poky in
Neurospora
229
Petites
in Saccharomyces
230
Knowledge of Mitochondrial and Chloroplast
DNA
Helps Explain
Organelle
Heredity
237
Organelle DNA
and the Endosymbiotic Theory
237
Molecular Organization and Gene Products
of Chloroplast
DNA 232
CONTENTS
Molecular Organization and Gene Products
of Mitochondrial
DNA 233
9.3
Mutations in Mitochondrial
DNA
Cause Human
Disorders
234
9.4
Infectious Heredity Is Based on a Symbiotic
Relationship between Host Organism and Invader
236
Kappa in Paramecium
236
Infective Particles in
Drosophila
236
9.5
In Maternal Effect, the Maternal Genotype Has a Strong
Influence during Early Development
237
Ephestia Pigmentation
237
Limnaea Coiling
238
Embryonic Development in
Drosophila
239
■
GENETICS, TECHNOLOGY, AND SOCIETY
Mitochondrial
DNA
and the Mystery of the Romanovs
239
■
EXPLORING GENOMICS
Mitochondrial Genes and Mitomap
240
Chapter Summary
241
Insights and Solutions
242
Problems and Discussion Questions
242
Extra-Spicy Problems
243
PART TWO
DNA:
STRUCTURE,
REPLICATION, AND VARIATION
10
DNA
Structure and Analysis
245
10.1
The Genetic Material Must Exhibit Four
Characteristics
246
10.2
Until
1944,
Observations Favored Protein
as the Genetic Material
247
10.3
Evidence Favoring
DNA
as the Genetic Material Was
First Obtained during the Study of Bacteria and
Bacteriophages
247
Transformation: Early Studies
247
Transformation: The Avery, MacLeod, and McCarty
Experiment
249
The Hershey-Chase Experiment
250
Transfection Experiments
257
10.4
Indirect and Direct Evidence Supports the Concept that
DNA
Is the Genetic Material in
Eu
kary o
tes
253
Indirect Evidence: Distribution
of
DNA 253
Indirect Evidence: Mutagenesis
253
Direct Evidence: Recombinant
DNA
Studies
254
10.5
RNA
Serves as
the Genetic Material in
Some Viruses
254
10.6
Knowledge of Nucleic Acid Chemistry Is Essential
to the Understanding of
DNA
Structure
255
Nucleotides: Building Blocks of Nucleic Acids
255
Nucleoside Diphosphates and Triphosphates
256
Polynucleotides
256
10.7
The Structure of
DNA
Holds the Key to Understanding
Its Function
257
Base-Composition Studies
258
Х
-Ray Diffraction Analysis
259
The Watson-Crick Model
259
Щ
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose
Nucleic Acid
267
10.8
Alternative Forms of
DNA
Exist
262
10.9
The Structure of
RNA
Is Chemically Similar to
DNA,
but Single Stranded
263
10.10
Many Analytical Techniques Have Been Useful during
the Investigation of
DNA
and
RNA
264
Absorption of Ultraviolet Light
264
Sedimentation Behavior
264
Denaturation and Renaturation of Nucleic Acids
266
Molecular Hybridization
267
Fluorescent in situ Hybridization (FISH)
268
Reassociation
Kinetics and Repetitive
DNA 268
Electrophoresis of Nucleic Acids
270
■
GENETICS, TECHNOLOGY, AND SOCIETY
The Twists and Turns of the Helical Revolution
277
■
EXPLORING GENOMICS
Introduction to Bioinformatics: BLAST
272
Chapter Summary
273
Insights and Solutions
274
Problems and Discussion Questions
275
Extra-Spicy Problems
276
CONTENTS
11
DNA
Replication
and Recombination
278
rl2
DNA
Organization
in Chromosomes
302
11.1 DNA
Is Reproduced by Semiconservative
Replication
279
The Meselson-Stahl Experiment
280
Semiconservative Replication in Eukaryotes
281
Origins, Forks, and Units of Replication
282
11.2 DNA
Synthesis in Bacteria Involves Five Polymerases,
as Well as Other Enzymes
283
DNA Polymerase
I
283
Synthesis of Biologically Active
DNA 284
DNA
Polymerases II, III, IV, and V
285
11.3
Many Complex Tasks Must Be Performed during
DNA
Replication
286
Unwinding the
DNA
Helix
286
Initiation of
DNA
Synthesis with an
RNA
Primer
287
Continuous and Discontinuous
DNA
Synthesis of
Antiparallel
Strands
287
Concurrent Synthesis on the Leading and Lagging Strands
288
Integrated Proofreading and Error Correction
288
11.4
A Summary of
DNA
Replication in Prokaryotes
289
11.5
Replication in Prokaryotes Is Controlled by a Variety
of Genes
289
11.6
Eukaryotic
DNA
Synthesis Is Similar to Synthesis
in Prokaryotes, but More Complex
290
Multiple Replication Origins
290
Eukaryotic
DNA
Polymerases
291
11.7
Telomeres Provide Structural Integrity at Chromosome
Ends but Are Problematic to Replicate
292
Telomere Structure
292
Replication at the Telomere
292
11.8 DNA
Recombination, Like
DNA
Replication, Is Directed
by Specific Enzymes
294
11.9
Gene Conversion Is a Consequence of
DNA
Recombination
294
■
GENETICS, TECHNOLOGY, AND SOCIETY
Telomeres: Defining the End of the Line?
296
12.1
Viral and Bacterial Chromosomes Are Relatively Simple
DNA
Molecules
303
12.2
Supercoiling Facilitates Compaction of the
DNA
of Viral
and Bacterial Chromosomes
305
12.3
Specialized Chromosomes Reveal Variations in the
Organization of
DNA 306
Polytene Chromosomes
306
Lampbrush Chromosomes
307
12.4 DNA
Is Organized into Chromatin in Eukaryotes
308
Chromatin Structure and Nucleosomes
308
High-Resolution Studies of the Nucleosome Core
310
Heterochromatin
372
12.5 Chromosome Banding Differentiates Regions along
the Mitotic Chromosome
312
12.6
Eukaryotic Chromosomes Demonstrate Complex
Sequence Organization Characterized
by Repetitive
DNA 373
Satellite
DNA 373
Centromeric DNA
Sequences
314
Telomeric
DNA
Sequences
375
Middle Repetitive Sequences: VNTRs and STRs
376
Repetitive Transposed Sequences: SINEs and LINEs
376
Middle Repetitive Multiple-Copy Genes
376
12.7
The Vast Majority of a Eukaryotic Genome Does Not
Encode Functional Genes
376
■
EXPLORING GENOMICS
UniGeneTranscript Maps
377
Chapter Summary 37S
Insights and Solutions 37S
Problems and Discussion Questions
379
Extra-Spicy Problems
320
■
EXPLORING GENOMICS
Entrez: A
Gateway to Genome Resources
Chapter Summary
298
Insights and Solutions
298
Problems and Discussion Questions
299
Extra-Spicy Problems
300
297
CONTENTS
13
Recombinant
DNA Technology
and Gene Cloning
322
13.1
Recombinant
DNA Technology Combines
Several
Laboratory Techniques
323
13.2
Restriction Enzymes Cut
DNA
at Specific Recognition
Sequences
323
13.3
Vectors Carry
DNA
Molecules to Be Cloned
325
Plasmici
Vectors
325
Lambda
(λ)
Phage Vectors
326
Cosmid Vectors
327
Bacterial Artificial Chromosomes
328
Expression Vectors
328
13.4 DNA Was
First Cloned in Prokaryotic Host Cells
329
13.5
Yeast Cells Are Used as Eukaryotic Hosts
for Cloning
330
13.6
Plant and Animal Cells Can Be Used as Host Cells
for Cloning
330
Plant Cell Hosts
331
Mammalian Cell Hosts
331
13.7
The Polymerase Chain Reaction Makes
DNA
Copies
Without Host Cells
332
Limitations of PCR
333
Other Applications of PCR
333
13.8
Recombinant
Libraries Are Collections
of Cloned Sequences
333
Genomic Libraries
333
Chromosome-Specific Libraries
334
cDNA Libraries
335
13.9
Specific Clones Can Be Recovered from a Library
336
Probes Identify Specific Clones
336
Screening a Library
337
13.10
Cloned Sequences Can Be Analyzed
in Several Ways
338
Restriction Mapping
338
Nucleic Acid Blotting
339
13.11 DNA
Sequencing Is the Ultimate Way to Characterize
a Clone
341
Recombinant
DNA
Technology and Genomics
342
■
GENETICS, TECHNOLOGY, AND SOCIETY
Beyond Dolly: The Cloning of Humans
344
■
EXPLORING GENOMICS
Manipulating
Recombinant
DNA:
Restriction Mapping and
Designing PCR Primers
345
Chapter Summary
346
Insights and Solutions
347
Problems and Discussion Questions
347
Extra-Spicy Problems
350
PART THREE
GENE EXPRESSION,
REGULATION,
AND DEVELOPMENT
14
The Genetic Code
and Transcription
352
14.1
The Genetic Code Uses Ribonucleotide Bases
as Letters
353
14.2
Early Studies Established the Basic Operational
Patterns of the Code
354
The Triplet Nature of the Code
354
The
Nonoverlapping
Nature of the Code
354
The Commaless and Degenerate Nature of the Code
355
14.3
Studies by Nirenberg, Matthaei, and Others Led
to Deciphering of the Code
355
Synthesizing Polypeptides in a Cell-Free System
355
Homopolymer Codes
356
Mixed Copolymers
356
The Triplet Binding Assay
357
Repeating Copolymers
358
14*4
The Coding Dictionary Reveals Several Interesting
Patterns among the
64
Codons
359
Degeneracy and the Wobble Hypothesis
359
The Ordered Nature of the Code
360
Initiation, Termination, and Suppression
367
14.5
The Genetic Code Has Been Confirmed in Studies
of Phage MS2
367
14.6
The Genetic Code Is Nearly Universal
367
14.7
Different Initiation Points Create Overlapping
Genes
362
14Λ
Transcription Synthesizes
RNA
on
a
DNA
Template
363
CONTENTS
14.9
Studies
with Bactena and Phages Provided Evidence
for the Existence of mRNA
363
14.10
RNA
Polymerase Directs
RNA
Synthesis
364
Promoters, Template Binding, and the
σ
Subunit
364
Initiation, Elongation, and Termination of
RNA
Synthesis
365
14.11
Transcription in Eukaryotes Differs from Prokaryotic
Transcription in Several Ways
366
Initiation ofTranscription in Eukaryotes
366
Recent Discoveries Concerning
RNA
Polymerase Function
367
Heterogeneous Nuclear
RNA
and Its Processing: Caps
and Tails
368
14.12
The Coding Regions of
E u kary o ti c
Genes Are
Interrupted by Intervening Sequences
369
Splicing Mechanisms: Autocatalytic RNAs
370
Splicing Mechanisms: The Spliceosome
371
RNA
Editing Modifies the Final Transcript
372
14.13
Transcription Has Been Visualized by Electron
Microscopy
373
GENETICS, TECHNOLOGY, AND SOCIETY
Nucleic Acid-Based Gene Silencing: Attacking the Messenger
373
■
EXPLORING GENOMICS
Transcriptome
Databases and Noncoding
RNA
Databases
374
Chapter Summary
376
Insights and Solutions
376
Problems and Discussion Questions
377
Extra-Spicy Problems
378
15
Translation and Proteins
381
15.1
Translation of mRNA Depends on Ribosomes
and Transfer RNAs
382
Ribosomal Structure
382
tRNA Structure
383
Charging tRNA
385
15.2
Translation of mRNA Can Be Divided
into Three Steps
386
Initiation
386
Elongation
387
Termination
388
Polyribosomes
388
15.3
Crystallographic Analysis Has Revealed Many Details
about the Functional Prokaryotic Ribosome
389
15.4
Translation Is More Complex in Eukaryotes
390
15.5
The Initial Insight That Proteins Are Important
in Heredity Was Provided by the Study of Inborn Errors
of Metabolism
390
Phenylketonuria
397
15.6
Studies of
Neurospora
Led to the One-Gene: One-
Enzyme Hypothesis
392
Analysis of
Neurospora
Mutants by Beadle and Tatum
392
Genes and Enzymes: Analysis of Biochemical Pathways
392
15.7
Studies of Human Hemoglobin Established That One
Gene Encodes One Polypeptide
394
Sickle-Cell Anemia
394
Human Hemoglobins
396
15.8
The Nucleotide Sequence of a Gene and the
Amino
Acid
Sequence of the Corresponding Protein Exhibit
Colinearity
396
15.9
Variation in Protein Structure Provides the Basis
of Biological Diversity
397
15.10
Posttranslational Modification Alters the Final Protein
Product
399
15.11
Proteins Function in Many Diverse Roles
400
15.12
Proteins Are Made Up of One or More
Functional Domains
401
Exon Shuffling
407
The Origin of Protein Domains
402
■
GENETICS, TECHNOLOGY, AND SOCIETY
Mad Cow Disease: The Prion Story
403
■
EXPLORING GENOMICS
Translation Tools, Swiss-Prot, and Protein-Protein
Interaction Databases
404
Chapter Summary
405
Insights and Solutions
406
Problems and Discussion Questions
406
Extra-Spicy Problems
407
CONTENTS
rió
Gene Mutation and DNA
Repair
470
16.1
Gene Mutations Are Classified in Various Ways
411
Spontaneous and Induced Mutations
47 7
The Luria-Delbruck Fluctuation Test: Are Mutations Spontaneous
or Adaptive?
47 7
Classification Based on Location of Mutation
413
Classification Based on Type of Molecular Change
473
Classification Based on Phenotypic Effects
4 74
16.2
Spontaneous Mutations Arise from Replication Errors
and Base Modifications
475
DNA
Replication Errors
475
Replication Slippage
475
Tautomerie
Shifts
475
Depurination and Deamination
475
Oxidative Damage
477
Transposons
477
16.3
Induced Mutations Arise from
DNA
Damage Caused
by Chemicals and Radiation
477
Base Analogs
477
Alkylating Agents and Acridine Dyes
478
Ultraviolet Light
418
Ionizing Radiation
418
16.4
Genomics and Gene Sequencing Have Enhanced Our
Understanding of Mutations in Humans
479
ABO Blood Groups
479
Muscular Dystrophy
420
Fragile X Syndrome,
Myotonie
Dystrophy,
and
Huntington
Disease
420
16.5
The Ames Test Is Used to Assess the Mutagenicity of
Compounds
427
16.6
Organisms Use
DNA
Repair Systems to Counteract
Mutations
427
Proofreading and Mismatch Repair
422
Postreplication Repair and the SOS Repair System
422
Photoreactivation Repair: Reversal of UV Damage
423
Base and Nucleotide Excision Repair
423
Nucleotide Excision Repair and Xeroderma Pigmentosum in
Humans
424
Double-Strand Break Repair in Eukaryotes
425
16.7
Geneticists Use Mutations to Identify Genes and Study
Gene Function
426
| Hemophilia in the Royal Family
427
■
GENETICS, TECHNOLOGY, AND SOCIETY
In the Shadow of Chernobyl
428
■
EXPLORING GENOMICS
Sequence Alignment to Identify a Mutation
429
Chapter Summary
430
Insights and Solutions
437
Problems and Discussion Questions
437
Extra-Spicy Problems
432
17
Regulation of Gene Expression
in Prokaryotes
435
17.1
Prokaryotes Regulate Gene Expression in Response
to Environmental Conditions
436
17.2
Lactose Metabolism in
E. coli
Is Regulated
by an Inducible System
436
Structural Genes
437
The Discovery of Regulatory Mutations
438
The Operon Model: Negative Control
438
Genetic Proof of the Operon Model
439
Isolation ofthe
Repressor
447
173
The Catabolite-Activating Protein (CAP) Exerts Positive
Control over the lac Operon
442
17.4
Crystal Structure Analysis of
Repressor
Complexes Has
Confirmed the Operon Model
443
17.5
The Tryptophan
(trp)
Operon in
E. coli
Is a Repressible
Gene System
444
Evidence for the
trp
Operon
445
17.6
Attenuation Is a Critical Process in Regulation
of the
trp
Operon in
E. coli
446
CONTENTS
17.7
TRAP and AT Proteins Govern Attenuation
in B. subtil is
446
17.8
The
ara Operon
Is Controlled by a Regulator Protein
That Exerts Both Positive and Negative Control
448
■
GENETICS, TECHNOLOGY, AND SOCIETY
Quorum Sensing: How Bacteria Talk to One Another
450
■
EXPLORING GENOMICS
Microarrays and MicrobesOnline
Chapter Summary
452
Insights and Solutions
453
Problems and Discussion Questions
Extra-Spicy Problems
454
451
453
18
Regulation of Gene Expression
in Eukaryotes
457
18.1
Eukaryotic Gene Regulation Can Occur at Any of the
Steps Leading from
DNA
to Protein Product
458
18.2
Eukaryotic Gene Expression Is Influenced by
Chromosome Organization and Chromatin
Modifications
459
Chromosome Territories and Transcription Factories
459
Chromatin Remodeling
460
DNA Methylation 467
18.3
Eukaryotic Gene Transcription Is Regulated at Specific
C/s-Acting Sites
463
Promoters
463
Enhancers and Silencers
464
18.4
Eukaryotic Transcription Is Regulated by Transcription
Factors that Bind to C/ s-Acting Sites
465
The Human Metallothionein MA Gene: Multiple C/s-Acting Elements
and Transcription Factors
465
Functional Domains of Eukaryotic Transcription Factors
466
18.5 Activators and
Repressore
Regulate Transcription by
Binding to Cis-Acting Sites and Interacting with Other
Transcription Factors
467
Formation of the Transcription Initiation Complex
467
Interactions of the General Transcription Factors with Transcription
Activators
467
18.6
Gene Regulation in a Model Organism: Inducible
Transcription of the GAL Genes of Yeast
469
18.7
Posttranscriptional Gene Regulation Occurs at All
the Steps from
RNA
Processing to Protein
Modification
470
Alternative Splicing of mRNA
471
Sex Determination in
Drosophila:
A Model for Regulation
of Alternative Splicing
472
Control of mRNA Stability
473
Translational and Post-translational Controls
474
18.8
RNA
Silencing Controls Gene Expression
in Several Ways
476
The Molecular Mechanisms of
RNA
Silencing
476
RNA
Silencing in Biotechnology and Therapy
477
■
GENETICS, TECHNOLOGY, AND SOCIETY
Gene Regulation and Human Genetic Disorders
478
■
EXPLORING GENOMICS
Tissue-Specific Gene Expression and the ENCODE (ENCyclopedia
of
DNA
Elements) Project
479
Chapter Summary
480
Insights and Solutions
480
Problems and Discussion Questions
481
Extra-Spicy Problems
482
19
Developmental Genetics
of Model Organisms
484
19.1
Developmental Genetics Seeks to Explain How a
Differentiated State Develops from Genomic Patterns
of Expression
485
19.2
Evolutionary Conservation of Developmental
Mechanisms Can Be Studied Using Model
Organisms
486
Model Organisms in the Study of Development
486
Analysis of Developmental Mechanisms
487
Basic Concepts in Developmental Genetics
487
19.3
Genetic Analysis of Embryonic Development in
Drosophila
Revealed How the Body Axis of Animals
Is Specified
487
Overview of
Drosophila
Development
487
Genetic Analysis of
Embryogenesis 488
19.4
Zygotic Genes Program Segment Formation in
Drosophila
489
Gap Genes
490
Pair-Rule Genes
490
Segment Polarity Genes
497
Segmentation Genes in Mice and Humans
497
19.5
Homeotic Selector Genes Specify Parts
of the Adult Body
492
Homeotic Selector (Hox) Genes in
Drosophila
492
CONTENTS
Нох
Genes and Human
Genetic Disorders
493
Control of
Нол
Gene Expression
495
19.6
Cascades of Gene Action Control Differentiation
495
19.7
Plants Have Evolved Systems That Parallel the Hox
Genes of Animals
496
Homeotic Genes in Arabidopsis
496
Evolutionary Divergence in Homeotic Genes
498
19.8
Cell-Cell Interactions in Development Are Modeled
in
C. elegans
498
Signaling Pathways in Development
498
The Notch Signaling Pathway
499
Overview of
C elegans
Development
499
Genetic Analysis of Vulva Formation
500
Notch Signaling Systems in Humans
501
19.9
Transcriptional Networks Control Gene Expression
in Development
502
A General Model of a Transcription Network
502
Transcriptional Networks in
Drosophila
Segmentation
502
■
GENETICS, TECHNOLOGY, AND SOCIETY
Stem Cell Wars
505
■
EXPLORING GENOMICS
Gene Collections for Model Organisms
506
Chapter Summary
506
Insights and Solutions
507
Problems and Discussion Questions
508
Extra-Spicy Problems
509
20
Cancer and Regulation
of the Cell Cycle
57 7
Cell-Cycle Control and Checkpoints
576
Control of Apoptosis
577
20.4
Many Cancer-Causing Genes Disrupt Control
of the Cell Cycle 57S
The
ras Proto-oncogenes
579
The cyclin
DI
and cyclin
E
Proto-oncogenes
520
The p53 Tumor-suppressor Gene
520
The RB
7
Tumor-suppressor Gene
527
20.5
Cancer Cells Metastasize, Invading Other Tissues
522
20.6
Predisposition to Some Cancers Can Be Inherited
522
20.7
Viruses Contribute to Cancer in Both Humans
and Animals
524
20.8
Environmental Agents Contribute
to Human Cancers
525
■
GENETICS, TECHNOLOGY, AND SOCIETY
Cancer in the Cross-Hairs: Taking Aim with Targeted
Therapies
526
■
EXPLORING GENOMICS
The Cancer Genome Anatomy Project (CGAP)
527
Chapter Summary
527
Insights and Solutions
528
Problems and Discussion Questions
529
Extra-Spicy Problems
530
PART FOUR
GENOMICS
21
Genomics, Bioinformatics,
and Proteomics
537
20.1
Cancer Is a Genetic Disease That Arises at the Level of
Somatic Cells
572
What Is Cancer?
572
The Clonal Origin of Cancer Cells
573
Cancer As a Multistep Process, Requiring Multiple
Mutations
573
20.2
Cancer Cells Contain Genetic Defects Affecting
Genomic Stability,
DNA
Repair, and Chromatin
Modifications
574
Genomic Instability and Defective
DNA
Repair
574
Chromatin Modifications and Cancer Epigenetics
575
20.3
Cancer Cells Contain Genetic Defects Affecting
Cell-Cycle Regulation
576
The Cell Cycle and Signal Transduction
576
21.1
Whole-Genome Shotgun Sequencing Is a Widely Used
Method for Sequencing and Assembling Entire
Genomes
532
High-Throughput Sequencing
533
The Clone-by-Clone Approach
534
Draft Sequences and Checking for Errors
536
21.2 DNA
Sequence Analysis Relies on Bioinformatics
Applications and Genome Databases
536
Annotation to Identify Gene Sequences
537
Hallmark Characteristics of a Gene Sequence Can Be Recognized
During Annotation
537
213
Functional Genomics Attempts to Identify Potential
Functions of Genes and Other Elements
in a Genome
540
CONTENTS
Predicting Gene and Protein Functions by Sequence Analysis
540
Predicting Function from Structural Analysis of Protein Domains
and Motifs
547
21.4
The Human Genome Project Reveals Many Important
Aspects of Genome Organization in Humans
541
Origins of the Project
541
Major Features of the Human Genome
542
21.5
The Omics Revolution Has Created a New Era of
Biological Research Methods
545
21.6
Prokaryotic and Eukaryotic Genomes Display Common
Structural and Functional Features and Important
Differences
545
Unexpected Features of Prokaryotic Genomes
546
Organizational Patterns of Eukaryotic Genomes 54S
The Yeast Genome
549
Plant Genomes
549
The Minimum Genome for Living Cells
549
21.7
Comparative Genomics Analyzes and Compares
Genomes from Different Organisms
550
The Dog as a Model Organism
550
The Chimpanzee Genome
557
The Rhesus Monkey Genome
552
The Sea Urchin Genome
552
Evolution and Function of Multigene Families
553
21.8
Metagenomics Applies Genomics Techniques
to Environmental Samples
555
21.9
Transcriptome Analysis Reveals Profiles of Expressed
Genes in Cells and Tissues
556
21.10
Proteomics Identifies and Analyzes the Protein
Composition of Cells
559
Reconciling the Number of Genes and the Number of Proteins
Expressed by a Cell or Tissue
560
Proteomics Technologies: Two-Dimensional Gel Electrophoresis for
Separating Proteins
560
Proteomics Technologies: Mass Spectrometry for Protein
Identification
567
Identification of Collagen in Tyrannosaurus rex and
Mammut
americanum Fossils
563
Environment-Induced Changes in the M. genitalium
Proteome
564
21.11
Systems Biology Is an Integrated Approach
to Studying Interactions of All Components
of an Organism s Cells
565
■
GENETICS, TECHNOLOGY, AND SOCIETY
Personalized Genome Projects and the Quest
for the
$1000
Genome
567
■
EXPLORING GENOMICS
Contigs, Shotgun Sequencing, and Comparative Genomics
Chapter Summary
569
Insights and Solutions
570
Problems and Discussion Questions
577
Extra-Spicy Problems
573
568
r-
22
Genome Dynamics:
Transposons,
Immunogenetics,
and Eukaryotic Viruses
574
22.1
Transposable Elements Are Present in the Genomes
of Both Prokaryotes and Eukaryotes
575
Insertion Sequences
575
Bacterial
Transposons
576
The
Ас
-Ds
System in Maize
577
Mobile Genetic Elements in Peas: Mendel Revisited 57S
Copia
Elements in
Drosophila
578
Ρ
Element
Transposons
in
Drosophila
579
Transposable Elements in Humans
579
22.2
Transposons Use
Two Different Methods to Move
Within Genomes
579
DNA
Transposons
and Transposition
580
Retrotransposons and Transposition
580
22.3
Transposons
Create Mutations and Provide Raw
Material for Evolution
583
Transposon Silencing
583
Transposons,
Mutations, and Gene Expression
583
Transposons
and Evolution
585
ZIA Immunoglobulin
Genes Undergo Programmed Genome
Rearrangements
585
The Immune System and Antibody Diversity
585
CONTENTS
Immunoglobulin and TCR
structure
586
The Generation of Antibody Diversity and Class Switching
587
22.5 Eukaryotic Viruses Shuttle Genes Within and Between
Genomes
589
22.6
Retroviruses Move Genes In and Out of Genomes
and Alter Host Gene Expression
589
The Retroviral Life Cycle
590
Retroviral Repercussions for Genome Rearrangement
592
22.7
Large
DNA
Viruses Gain Genes by Recombining
with Other Host and Viral Genomes
594
Gene Transfer between Cellular and Viral Genomes
594
Gene Transfer between Viruses
596
22.8
RNA
Viruses Acquire Host Genes and Evolve
New Forms
596
The Life Cycle of
RNA
Viruses
597
Gene Transfer and Genome Variability in
RNA
Viruses
598
■
EXPLORING GENOMICS
Avian Influenza Information and Databases
600
Chapter Summary
607
Insights and Solutions
607
Problems and Discussion Questions
602
Extra-Spicy Problems
603
r23
Genomic Analysis—Dissection
of Gene Function
605
23.1
Geneticists Use Model Organisms to Answer Genetic
and Genomic Questions
606
Features of Genetic Model Organisms
606
Yeast as a Genetic Model Organism
606
Drosophila
as a Genetic Model Organism
609
The Mouse as a Genetic Model Organism
67 7
23.2
Geneticists Dissect Gene Function Using Mutations
and Forward Genetics
672
Generating Mutants with Radiation, Chemicals, andTransposon
Insertion
672
Screening for Mutants
672
Selecting for Mutants
674
Defining the Genes
674
Dissecting Genetic Networks and Pathways
675
Extending the Analysis: Suppressors and Enhancers
616
Extending the Analysis: Cloning the Genes
677
Extending the Analysis: Gene Product Functions
677
23.3
Geneticists Dissect Gene Function Using Genomics
and Reverse Genetics
618
Genetic Analysis Beginning with a Purified Protein 67S
Genetic Analysis Beginning with a Mutant Model Organism
679
Genetic Analysis Beginning with the Cloned Gene
or
DNA
Sequence
620
Genetic Analysis Using Gene-Targeting Technologies
622
23.4
Geneticists Dissect Gene Function Using RNAi,
Functional Genomic, and Systems Biology
Technologies
625
RNAi: Genetics without Mutations
625
High-Throughput and Functional Genomics Techniques
626
Systems Biology and Gene Networks
627
■
GENETICS, TECHNOLOGY, AND SOCIETY
Whose
DNA
Is It, Anyway?
627
Щ
EXPLORING GENOMICS
The Knockout Mouse Project
628
Chapter Summary
629
Insights and Solutions
630
Problems and Discussion Questions
631
Extra-Spicy Problems
632
-24
Applications and Ethics of Genetic
Engineering and Biotechnology
633
24.1
Genetically Engineered Organisms Synthesize a Wide
Range of Biological and Pharmaceutical Products
634
Insulin Production in Bacteria
634
Transgenic Animal Hosts and Pharmaceutical Products
635
Recombinant
DNA
Approaches for Vaccine Production and
Transgenic Plants with Edible Vaccines
637
CONTENTS
xxiii
■
EXPLORING GENOMICS
Genomics Applications
to Identify Gene
Expression
Signatures of
Breast Cancer
662
Chapter Summary
663
Insights and Solutions
663
Problems and Discussion Questions
664
Extra-Spicy Problems
666
24.2
Genetic Engineering of Plants Has Revolutionized
Agriculture
638
Transgenic Crops for Herbicide and Pest Resistance
639
Nutritional Enhancement of Crop Plants
641
24.3
Transgenic Animals with Genetically Enhanced
Characteristics Have the Potential to Serve Important
Roles in Agriculture and Biotechnology
647
24.4
Genetic Engineering and Genomics Are Transforming
Medical Diagnosis
643
Genetic Tests Based on Restriction Enzyme Analysis
643
Genetic Tests Using Allele-Specific Oligonucleotides
644
Genetic Testing Using
DNA Microarrays
and Genome Scans
646
Genetic Analysis Using Gene Expression Microarrays
648
Application of Microarrays for Gene Expression and Genotype
Analysis of Pathogens
650
24.5
Genetic Engineering and Genomics Promise New,
More Targeted Medical Therapies
652
Pharmacogenomics and Rational Drug Design
652
Gene Therapy
653
24.6 DNA
Profiles Help Identify Individuals
656
DNA
Profiling Based on
DNA
Minisatellites
(VNTRs)
656
DNA
Profiling Based on
DNA
Microsatellites
657
Terrorism and Natural Disasters Force Development of New
Technologies 65S
Forensic Applications of
DNA
Profiling
658
24.7
Genetic Engineering, Genomics, and Biotechnology
Create Ethical, Social, and Legal Questions
659
Concerns about Genetically Modified Organisms
and GM Foods
659
Genetic Testing and Ethical Dilemmas
659
The Ethical Concerns Surrounding Gene Therapy
660
The Ethical, Legal, and Social Implications (ELSI) Program
660
DNA
and Gene Patents
660
■
GENETICS, TECHNOLOGY, AND SOCIETY
Gene Therapy—Two Steps Forward or Two Steps Back?
667
PART FIVE
GENETICS OF ORGANISMS
AND POPULATION
25
Quantitative Genetics
and Multifactorial Traits
668
25.1
Not All Polygenic Traits Show Continuous
Variation
669
25.2
Quantitative Traits Can Be Explained
in Mendelian Terms
670
The Multiple-Gene Hypothesis for Quantitative Inheritance
670
Additive
Alíeles:
The Basis of Continuous Variation
677
Calculating the Number of Polygenes
677
25.3
The Study of Polygenic Traits Relies
on Statistical Analysis
672
The Mean
672
Variance
673
Standard Deviation
673
Standard Error of the Mean
673
Covariance
673
Analysis of a Quantitative Character
674
25.4
Heritability Values Estimate the Genetic Contribution
to Phenotypic Variability
674
Broad-Sense Heritability
675
Narrow-Sense Heritability
676
Artificial Selection
676
25.5
Twin Studies Allow an Estimation of Heritability
in Humans
678
25.6
Quantitative Trait Loci Can Be Mapped
678
GENETICS, TECHNOLOGY, AND SOCIETY
The Green Revolution Revisited: Genetic Research with Rice
680
■
EXPLORING GENOMICS
ALFRED and Quantitative Trait Loci (QTLs)
Chapter Summary
682
Insights and Solutions
682
681
xxiv
CONTENTS
27
Population Genetics
710
Problems and Discussion Questions
683
Extra-Spicy Problems
685
r26
Genetics and Behavior
688
26.1
Behavioral Differences Between Genetic Strains
Can Be Identified
689
Inbred Mouse Strains: Differences in Alcohol Preference
690
Emotional Behavior Differences in Inbred Mouse Strains
690
26.2
Artificial Selection Can Establish Genetic Strains with
Behavioral Differences
692
Maze Learning in Rats
692
Artificial Selection forGeotaxis in
Drosophila
693
263
Drosophila
Is a Model Organism for Behavior
Genetics
694
Genetic Control of Courtship
695
Dissecting Behavior with Genetic Mosaics
695
Functional Analysis of the Nervous System
699
Drosophila
Can Learn and Remember
700
26.4
Human Behavior Has Genetic Components
701
Single Genes and Behavior:
Huntington
Disease
707
ATransgenic Mouse Model of
Huntington
Disease
701
Mechanisms of
Huntington
Disease
702
Multifactorial Behavioral Traits: Schizophrenia
702
Щ
GENETICS, TECHNOLOGY, AND SOCIETY
Genetics of Sexual Orientation
704
■
EXPLORING GENOMICS
HomoloGene: Searching for Behavioral Genes
Chapter Summary
706
Insights and Solutions
706
Problems and Discussion Questions
707
Extra-Spicy Problems
708
70S
27.1
Alíele
Frequencies in Population Gene Pools Vary
in Space and Time
711
212.
The Hardy-Weinberg Law Describes the Relationship
between
Alíele
Frequencies and Genotype Frequencies
in an Ideal Population
711
21
A The Hardy-Weinberg Law Can Be Applied
to Human Populations
713
Calculating an Allele s Frequency
713
Testing for Hardy-Weinberg Equilibrium
775
27.4
The Hardy-Weinberg Law Can Be Used to Study
Multiple
Alíeles,
Х
-Linked Traits,
and
Hétérozygote
Frequencies
776
Calculating Frequencies for Multiple
Alíeles
in Hardy-Weinberg
Populations
776
Calculating Frequencies forX-linked Traits
776
Calculating
Hétérozygote
Frequency
777
27.5
Natural Selection Is a Major Force Driving
Alíele
Frequency Change 77S
Natural Selection 77S
Fitness and Selection
718
Selection in Natural Populations
720
Natural Selection and Quantitative Traits
727
27.6
Mutation Creates New
Alíeles
in a Gene Pool
722
27.7
Migration and Gene Flow Can Alter
Alíele
Frequencies
724
21Л
Genetic Drift Causes Random Changes in
Alíele
Frequency in Small Populations
726
Founder Effects in Human Populations
726
Alíele
Loss during a Bottleneck
727
27.9
Nonrandom Mating Changes Genotype Frequency
but Not
Alíele
Frequency
728
Coefficient of Inbreeding
728
Outcomes of Inbreeding
729
■
GENETICS, TECHNOLOGY, AND SOCIETY
Tracking Our Genetic Footprints out of Africa
731
■
EXPLORING GENOMICS
Single-Nucleotide Polymorphisms (SNPs) and the
Y
Chromosome
Haplotype Reference Database (YHRD)
732
Chapter Summary
733
Insights and Solutions
733
Problems and Discussion Questions
734
Extra-Spicy Problems
735
CONTENTS xxv
Evolutionary Genetics
737
-29
Conservation Genetics
762
28.1
Speciation Can Occur by Transformation or by Splitting
Gene Pools
738
28.2
Most Populations and Species Harbor Considerable
Genetic Variation
739
Artificial Selection
739
Variations in
Amino
Acid Sequence
740
Variations in Nucleotide Sequence
740
Explaining the High Level of Genetic Variation in Populations
747
28.3
The Genetic Structure of Populations Changes across
Space and Time
742
28.4
Defining a Species Is a Challenge
for Evolutionary Biology
744
28.5
Reduced Gene Flow, Selection, and Genetic Drift
Can Lead to Speciation
745
Examples of Speciation
746
The Minimum Genetic Divergence for Speciation
747
The Rate of Speciation
748
28.6
Genetic Differences Can Be Used to Reconstruct
Evolutionary History
750
Constructing Evolutionary Trees from Genetic Data
750
Molecular Clocks
752
28.7
Reconstructing Evolutionary History Allows Us
to Answer Many Questions
753
Transmission of
HIV 753
Neanderthals and Modern Humans
754
Neanderthal Genomics
754
■
GENETICS, TECHNOLOGY, AND SOCIETY
What Can We Learn from the Failure of the Eugenics
Movement?
756
■
EXPLORING GENOMICS
ClustalW and Phylogenetic Analysis
757
Chapter Summary
758
Insights and Solutions
758
Problems and Discussion Questions
759
Extra-Spicy Problems
759
29.1
Genetic Diversity Is the Goal of Conservation
Genetics
764
Loss of Genetic Diversity
765
Identifying Genetic Diversity
765
29.2
Population Size Has a Major Impact
on Species Survival
766
29.3
Genetic Effects Are More Pronounced in Small, Isolated
Populations
768
Genetic Drift
768
Inbreeding
768
Reduction in Gene Flow
769
29.4
Genetic Erosion Threatens Species Survival
770
29.5
Conservation of Genetic Diversity Is Essential
to Species Survival
777
Ex Situ Conservation: Captive Breeding
777
Rescue of the Black-Footed Ferret through Captive Breeding
772
Ex Situ Conservation and Gene Banks
772
In Situ Conservation
773
Population Augmentation
773
■
GENETICS, TECHNOLOGY, AND SOCIETY
Gene Pools and Endangered Species: The Plight of the Florida
Panther
774
■
EXPLORING GENOMICS
PopSet: Examining the Genomes of Endangered Species
775
Chapter Summary
776
Insights and Solutions
777
Problems and Discussion Questions
777
Extra-Spicy Problems
778
Appendix A Glossary A-1
Appendix
В
Answers to Selected Problems A-18
AppendixC Selected Readings A-57
Credits
С
7
Index
1-1
|
| adam_txt |
Brief
Contents
PART ONE
GENES, CHROMOSOMES,
AND HEREDITY
ι
2
3
4
5
6
7
8
7
Introduction to Genetics
Mitosis and Meiosis
18
Mendelian Genetics
42
Extensions of Mendelian Genetics
70
Chromosome Mapping in Eukaryotes
705
Genetic Analysis and Mapping in Bacteria and
Bacteriophages
143
Sex Determination and Sex Chromosomes
173
Chromosome Mutations: Variation in Chromosome
Number and Arrangement
198
Extranuclear Inheritance
227
PART TWO
DNA:
STRUCTURE,
REPLICATION, AND VARIATION
10 DNA
Structure and Analysis
245
11 DNA
Replication and Recombination
278
12 DNA
Organization in Chromosomes
302
13
Recombinant
DNA
Technology
and Gene Cloning
322
PART THREE
GENE EXPRESSION,
REGULATION, AND
DEVELOPMENT
14
The Genetic Code and Transcription
352
15
Translation and Proteins
381
16
Gene Mutation and
DNA
Repair
410
17
Regulation of Gene Expression in Prokaryotes
435
Regulation of Gene Expression in Eukaryotes
457
Developmental Genetics of Model Organisms
484
18
19
PART FOUR
GENOMICS
21
Genomics, Bioinformatics, and Proteomics
537
22
Genome Dynamics:
Transposons, Immunogenetics,
and Eukaryotic Viruses
574
23
Genomic Analysis—Dissection of Gene Function
605
24
Applications and Ethics of Genetic Engineering
and Biotechnology
633
PART FIVE
GENETICS OF ORGANISMS
AND POPULATION
25
Quantitative Genetics and Multifactorial Traits
668
26
Genetics and Behavior
688
27
Population Genetics
710
28
Evolutionary Genetics
737
29
Conservation Genetics
762
Appendix A Glossary A-1
Appendix
В
Answers to Selected Problems A
-18
Appendix
С
Selected Readings A-57
Credits C-1
Index
1-і
20
Cancer and Regulation of the Cell Cycle
57 7
viii
Contents
Preface
xxvi
PART ONE
GENES, CHROMOSOMES,
AND HEREDITY
1
Introduction to Genetics
7
1.1
Genetics Progressed from Mendel to
DNA
in Less Than a Century
2
Mendel's Work on Transmission of Traits
2
The Chromosome Theory of Inheritance:
Uniting Mendel and Meiosis
3
Genetic Variation
4
The Search for the Chemical Nature of Genes:
DNA
or Protein?
.'
1.2
Discovery of the Double Helix Launched the Era of
Molecular Genetics
5
The Structure of
DNA
and
RNA
5
Gene Expression: From
DNA
to Phenotype
5
Proteins and Biological Function
6
Linking Genotype to Phenotype: Sickle-Cell Anemia
7
1.3
Development of
Recombinant
DNA
Technology Began
the Era of Cloning
8
1.4
The Impact of Biotechnology Is
Continually Expanding
8
Plants, Animals, and the Food Supply
9
Who Owns Transgenic Organisms?
9
Biotechnology in Genetics and Medicine
10
1.5
Genomics, Proteomics, and Bioinformadcs Are New
and Expanding Fields
10
1.6
Genetic Studies Rely on the Use of
Model Organisms
12
The Modem Set of Genetic Model Organisms
12
Model Organisms and Human Diseases
13
1.7
We Live in the Age of Genetics
14
The Nobel Prize and Genetics
14
Genetics and Society
15
Щ
GENETICS, TECHNOLOGY, AND SOCIETY
Genetics and Society: The Application and Impact of Science and
Technology
75
■
EXPLORING GENOMICS
Internet Resources for Learning about the Genomes of Model
Organisms
16
Chapter Summary
17
Problems and Discussion Questions
17
Mitosis and Meiosis
18
2.1
Cell Structure Is Closely Tied to Genetic Function
2.2
Chromosomes Exist in Homologous Pairs
in Diploid Organisms
21
2.3
Mitosis Partitions Chromosomes into
Dividing Cells
23
Interphase
and the Cell Cycle
24
Prophase
24
Prometaphase
and Metaphase
25
Anaphase 25
Telophase
26
Cell-Cycle Regulation and Checkpoints
27
19
CONTENTS
2.4
Meiosis
Reduces the
Chromosome
Number from
Diploid
to Haploid in Germ Cells and
Spores
28
An
Overview of Meiosis
28
The First Meiotic Division: Prophase
I
28
Metaphase,
Anaphase,
and Telophase
I
31
The Second Meiotic Division
31
2.5
The Development
of Gametes
Varies in
Spermatogenesis
Compared to
Oogénesis
31
2.6
Meiosis
Is Critical to the Successful Sexual Reproduction
of All Diploid Organisms
32
2.7
Electron Microscopy Has Revealed the Physical
Structure of Mitotic and Meiotic Chromosomes
34
The Synaptonemal Complex
36
■
GENETICS, TECHNOLOGY, AND SOCIETY
Breast Cancer: The Double-Edged Sword of Genetic Testing
■
EXPLORING GENOMICS
PubMed: Exploring and Retrieving
Biomedical
Literature
Chapter Summary
38
Insights and Solutions
39
Problems and Discussion Questions
40
Extra-Spicy Problems
47
37
38
■3
3.1
Mendelian Genetics
42
Mendel Used a Model Experimental Approach to Study
Patterns of Inheritance
43
3.2
The
Monohybrid
Cross Reveals How One Trait Is
Transmitted from Generation to Generation
43
Mendel's First Three Postulates
45
Modern Genetic Terminology
45
Mendel's Analytical Approach
45
Punnett Squares
46
The Testcross: One Character
46
3.3
Mendel's Dihybrid Cross Generated a Unique
F2 Ratio
47
Mendel's Fourth Postulate: Independent Assortment
47
| How Mendel's Peas Become Wrinkled:
A Molecular Explanation
48
The Testcross: Two Characters
49
ЗЛ
The Trihybrid Cross Demonstrates That Mendel's
Principles Apply to Inheritance of Multiple Traits
49
The Forked-Line Method, or Branch Diagram
50
3.S Mendel's Work Was Rediscovered in the Early
Twentieth Century
52
3.6
The Correlation of Mendel's Postulates with the Behavior
of Chromosomes Provided the Foundation of Modern
Transmission Genetics
52
The Chromosomal Theory of Inheritance
52
Unit Factors, Genes, and Homologous Chromosomes
52
3.7
Independent Assortment Leads to Extensive
Genetic Variation
54
3.8
Laws of Probability Help to Explain Genetic Events
54
Conditional Probability
55
The Binomial Theorem
55
3.9
Chi-Square Analysis Evaluates the Influence of Chance
on Genetic Data
56
Chi-Square Calculations and the Null Hypothesis
57
Interpreting Probability Values
58
3.10
Pedigrees Reveal Patterns of Inheritance
of Human Traits
59
Pedigree Conventions
59
Pedigree Analysis
60
■
GENETICS, TECHNOLOGY, AND SOCIETY
Тау
-Sachs Disease: The Molecular Basis of a Recessive Disorder in
Humans
61
■
EXPLORING GENOMICS
Online Mendelian Inheritance in Man
62
Chapter Summary
63
Insights and Solutions
63
Problems and Discussion Questions
66
Extra-Spicy Problems
68
4
Extensions of Mendelian Genetics
70
4.1
Alíeles
Alter Phenotypes in Different Ways
71
42
Geneticists Use a Variety of Symbols for
Alíeles
72
43
Neither
Alíele
Is Dominant in Incomplete, or Partial,
Dominance
72
4.4
In Codominance, the Influence of Both
Alíeles
in a
Hétérozygote
Is Clearly Evident
73
4.5
Multiple
Alíeles
of a Gene May Exist
in a Population
74
The ABO Blood Groups
74
The A and
В
Antigens
75
The Bombay Phenotype
76
The white Locus in
Drosophila
76
CONTENTS
Insights and Solutions
97
Problems and Discussion Questions
Extra-Spicy Problems
702
98
Chromosome Mapping
in Eukaryotes
105
4.6
Lethal
Alíeles
Represent Essential Genes
77
Recessive Lethal Mutations
77
Dominant Lethal Mutations
78
4.7
Combinations of Two Gene Pairs with Two Modes of
Inheritance Modify the
9:3:3:1
Ratio
78
4.8
Phenotypes Are Often Affected by More
Than One Gene
79
Epistasis
79
Novel Phenotypes
82
Other Modified Dihybrid Ratios
84
4.9
Complementation Analysis Can Determine If Two
Mutations Causing a Similar Phenotype Are
Alíeles
84
4.10
Expression of a Single Gene
May Have Multiple Effects
84
4.11
Х
-Linkage Describes Genes on the X Chromosome
85
X-Linkage in
Drosophila
86
Х
-Linkage in Humans
86
И
Lesch-Nyhan Syndrome: The Molecular Basis of a Rare X-Linked
Recessive Disorder
88
4.12
In Sex-Limited and Sex-Influenced Inheritance, an
Individual's Sex Influences the Phenotype
89
4.13
Genetic Background and the Environment May Alter
Phenotypic Expression
90
Penetrance
and Expressivity
90
Genetic Background: Suppression and Position Effects
91
Temperature Effects—An Introduction to Conditional Mutations
91
Nutritional Effects
92
Onset of Genetic Expression
92
Genetic Anticipation
93
Genomic (Parental) Imprinting
93
■
GENETICS, TECHNOLOGY, AND SOCIETY
Improving the Genetic Fate of Purebred Dogs
94
■
EXPLORING GENOMICS
The Human Epigenome Project
95
Chapter Summary
96
5.1
Genes Linked on die Same Chromosome
Segregate Togedier
706
The Linkage Ratio
707
5.2
Crossing Over Serves as the Basis for Determining
the Distance between Genes in Chromosome
Mapping
709
Morgan and Crossing Over
709
Sturtevant and Mapping
709
Single Crossovers
7 7 7
53
Determining the Gene Sequence during Mapping Requires
the Analysis of Multiple Crossovers
712
Multiple Exchanges
772
Three-Point Mapping in
Drosophila
113
Determining the Gene Sequence
7 75
A Mapping Problem in Maize
716
ЅЛ
Interference Affects die Recovery
of Multiple Exchanges
7 79
5.5
As die Distance between Two Genes Increases,
the Results of Mapping Experiments Become
Less Accurate
720
5.6
Drosophila
Genes Have Been Extensively Mapped
727
5.7
Lod
Score Analysis and Somatic Cell Hybridization
Were Historically Important in Creating Human
Chromosome Maps
727
5.8
Chromosome Mapping Is Now Possible Using
DNA
Markers and Annotated Computer Databases
724
5.9
Crossing Over Involves a Physical Exchange between
Chromatids
725
5.10
Recombination Occurs between
M
і
to tic
Chromosomes
725
5.11
Exchanges Also Occur between Sister Chromatids
726
5.12
Linkage and Mapping Studies Can Be Performed in
Haploid Organisms
727
Gene-to-Centromere Mapping
729
Ordered versus Unordered Tetrad Analysis
730
Linkage and Mapping
730
CONTENTS
5.13
Did Mendel Encounter Linkage?
133
| Why Didn't
Gregor
Mendel Find Linkage?
133
■
EXPLORING GENOMICS
Human Chromosome Maps on the Internet
Chapter Summary
735
Insights and Solutions
735
Problems and Discussion Questions
737
Extra-Spicy Problems
747
134
Љ
6.1
Genetic Analysis and Mapping
in Bacteria and Bacteriophages
143
Bacteria Mutate Spontaneously and Grow
at an Exponential Rate
144
6.2
Conjugation Is One Means of Genetic Recombination
in Bacteria
145
F+ and
F
Bacteria
746
Hfr Bacteria and Chromosome Mapping
747
Recombination in F+ X
F
Matings:
A Reexaminaron
757
The F' State and Merozygotes
757
6.3
Rec
Proteins Are Essential to Bacterial
Recombination
757
6.4
The
F
Factor Is an Example of a Plasmid
753
6.5
Transformation Is Another Process Leading to Genetic
Recombination in Bacteria
753
The Transformation Process
754
Transformation and Linked Genes
755
6.6
Bacteriophages Are Bacterial Viruses
755
Phage T4: Structure and Life Cycle
755
The Plaque Assay
756
Lysogeny
757
6.7
Transduction Is Virus-Mediated Bacterial
DNA
Transfer 75S
The Lederberg-Zinder Experiment
758
The Nature ofTransduction
755
Transduction and Mapping
760
6.8
Bacteriophages Undergo Intergenic
Recombination
160
Bacteriophage Mutations
760
Mapping in Bacteriophages
767
6.9
Intragenic Recombination Occurs in Phage T4
767
The rll Locus of Phage T4
762
Complementation by rll Mutations
Recombinational Analysis
763
Deletion Testing of the rll Locus
763
The rll Gene Map
764
GENETICS, TECHNOLOGY, AND SOCIETY
Bacterial Genes and Disease: From Gene Expression to Edible
Vaccines
766
767
■
EXPLORING GENOMICS
Microbial Genome Program (MGP)
Chapter Summary
168
Insights and Solutions
168
Problems and Discussion Questions
769
Extra-Spicy Problems
777
r7
Sex Determination
and Sex Chromosomes
173
162
7.1
Life Cycles Depend on Sexual Differentiation
774
Chlamydomonas
174
Zea
mays
175
Caenorhabditis
elegans
7 76
7.2
X and
Y
Chromosomes Were First Linked to Sex
Determination Early in the Twentieth Century
777
73
The
Y
Chromosome Determines Maleness
in Humans
775
Klinefelter and Turner Syndromes 77S
47,XXX Syndrome 7S0
47,XYY Condition
7
SO
Sexual Differentiation in Humans 7S7
The
Y
Chromosome and Male Development
182
CONTENTS
xiii
7.4 The Ratio
of
Males
to Females in Humans
Is Not
1.0 183
7.5
Dosage Compensation Prevents Excessive
Expression of X-Linked Genes in Humans
and Other Mammals
184
Barr
Bodies
784
The
Lyon
Hypothesis
185
The Mechanism of Inactivation
186
7.6
The Ratio of X Chromosomes to Sets of
Autosomes
Determines Sex in
Drosophila
187
Dosage Compensation in
Drosophila
189
Drosophila
Mosaics
790
7.7
Temperature Variation Controls Sex Determination
in Reptiles
190
■
GENETICS, TECHNOLOGY, AND SOCIETY
A Question of Gender: Sex Selection in Humans
792
■
EXPLORING GENQMICS
The Ovarian Kaleidoscope Database (OKDB)
Chapter Summary
794
Insights and Solutions
794
Problems and Discussion Questions
794
Extra-Spicy Problems
795
793
8.1
8.2
8.4
Chromosome Mutations:
Variation in Chromosome Number
and Arrangement
795
Specific Terminology Describes Variations
in Chromosome Number
799
Variation in the Number of Chromosomes Results
from Nondisjunction
799
Monosomy, the Loss of a Single Chromosome, May
Have Severe Phenotypic Effects
200
Trisomy Involves the Addition of a Chromosome to a
Diploid Genome
200
Down Syndrome
207
Patau Syndrome
203
Edwards Syndrome
204
Viability in Human Aneuploidy
204
Polyploidy, in Which More Than Two Haploid Sets of
Chromosomes Are Present, Is Prevalent in Plants
205
Autopolyploidy
205
Allopolyploidy
206
Endopolyploidy
208
8.5
Variation Occurs in the Internal Composition and
Arrangement of Chromosomes
208
8.6
A Deletion Is a Missing Region of a Chromosome
209
Cri
du Chat
Syndrome in Humans
270
Drosophila
Heterozygous for Deficiencies May Exhibit
Pseudodominance
270
8.7
A Duplication Is a Repeated Segment of the Genetic
Material
27 7
Gene Redundancy and Amplification: Ribosomal
RNA
Genes
27 7
The Bar Mutation in
Drosophila
212
The Role of Gene Duplication in Evolution
273
Ц
Copy Number Variants (CNVs)—Duplications and Deletions of
Specific
DNA
Sequences
274
8.8
Inversions Rearrange the Linear Gene Sequence
274
Consequences
ofinversions
during Gamete Formation
275
Position Effects
ofinversions
276
Evolutionary Advantages
ofinversions
277
8.9
Translocations
Alter the Location of Chromosomal
Segments in the Genome
277
Translocations
in Humans: Familial Down Syndrome
278
8.10
Fragile Sites in Humans Are Susceptible to
Chromosome Breakage
278
Fragile X Syndrome (Martin-Bell Syndrome)
279
■
GENETICS, TECHNOLOGY, AND SOCIETY
The Link between Fragile Sites and Cancer
220
■
EXPLORING GENOMICS
Atlas of Genetics and Cytogenetics in Oncology
and Haematology
227
Chapter Summary
222
Insights and Solutions
223
Problems and Discussion Questions
224
Extra-Spicy Problems
225
r9
9.1
9.2
Extranuclear Inheritance
227
Organelle
Heredity Involves
DNA in
Chloroplasts and Mitochondria
228
Chloroplasts: Variegation in Four O'clock Plants
228
Chloroplast Mutations in Chlamydomonas
228
Mitochondrial Mutations: The Case of poky in
Neurospora
229
Petites
in Saccharomyces
230
Knowledge of Mitochondrial and Chloroplast
DNA
Helps Explain
Organelle
Heredity
237
Organelle DNA
and the Endosymbiotic Theory
237
Molecular Organization and Gene Products
of Chloroplast
DNA 232
CONTENTS
Molecular Organization and Gene Products
of Mitochondrial
DNA 233
9.3
Mutations in Mitochondrial
DNA
Cause Human
Disorders
234
9.4
Infectious Heredity Is Based on a Symbiotic
Relationship between Host Organism and Invader
236
Kappa in Paramecium
236
Infective Particles in
Drosophila
236
9.5
In Maternal Effect, the Maternal Genotype Has a Strong
Influence during Early Development
237
Ephestia Pigmentation
237
Limnaea Coiling
238
Embryonic Development in
Drosophila
239
■
GENETICS, TECHNOLOGY, AND SOCIETY
Mitochondrial
DNA
and the Mystery of the Romanovs
239
■
EXPLORING GENOMICS
Mitochondrial Genes and Mitomap
240
Chapter Summary
241
Insights and Solutions
242
Problems and Discussion Questions
242
Extra-Spicy Problems
243
PART TWO
DNA:
STRUCTURE,
REPLICATION, AND VARIATION
10
DNA
Structure and Analysis
245
10.1
The Genetic Material Must Exhibit Four
Characteristics
246
10.2
Until
1944,
Observations Favored Protein
as the Genetic Material
247
10.3
Evidence Favoring
DNA
as the Genetic Material Was
First Obtained during the Study of Bacteria and
Bacteriophages
247
Transformation: Early Studies
247
Transformation: The Avery, MacLeod, and McCarty
Experiment
249
The Hershey-Chase Experiment
250
Transfection Experiments
257
10.4
Indirect and Direct Evidence Supports the Concept that
DNA
Is the Genetic Material in
Eu
kary o
tes
253
Indirect Evidence: Distribution
of
DNA 253
Indirect Evidence: Mutagenesis
253
Direct Evidence: Recombinant
DNA
Studies
254
10.5
RNA
Serves as
the Genetic Material in
Some Viruses
254
10.6
Knowledge of Nucleic Acid Chemistry Is Essential
to the Understanding of
DNA
Structure
255
Nucleotides: Building Blocks of Nucleic Acids
255
Nucleoside Diphosphates and Triphosphates
256
Polynucleotides
256
10.7
The Structure of
DNA
Holds the Key to Understanding
Its Function
257
Base-Composition Studies
258
Х
-Ray Diffraction Analysis
259
The Watson-Crick Model
259
Щ
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose
Nucleic Acid
267
10.8
Alternative Forms of
DNA
Exist
262
10.9
The Structure of
RNA
Is Chemically Similar to
DNA,
but Single Stranded
263
10.10
Many Analytical Techniques Have Been Useful during
the Investigation of
DNA
and
RNA
264
Absorption of Ultraviolet Light
264
Sedimentation Behavior
264
Denaturation and Renaturation of Nucleic Acids
266
Molecular Hybridization
267
Fluorescent in situ Hybridization (FISH)
268
Reassociation
Kinetics and Repetitive
DNA 268
Electrophoresis of Nucleic Acids
270
■
GENETICS, TECHNOLOGY, AND SOCIETY
The Twists and Turns of the Helical Revolution
277
■
EXPLORING GENOMICS
Introduction to Bioinformatics: BLAST
272
Chapter Summary
273
Insights and Solutions
274
Problems and Discussion Questions
275
Extra-Spicy Problems
276
CONTENTS
11
DNA
Replication
and Recombination
278
rl2
DNA
Organization
in Chromosomes
302
11.1 DNA
Is Reproduced by Semiconservative
Replication
279
The Meselson-Stahl Experiment
280
Semiconservative Replication in Eukaryotes
281
Origins, Forks, and Units of Replication
282
11.2 DNA
Synthesis in Bacteria Involves Five Polymerases,
as Well as Other Enzymes
283
DNA Polymerase
I
283
Synthesis of Biologically Active
DNA 284
DNA
Polymerases II, III, IV, and V
285
11.3
Many Complex Tasks Must Be Performed during
DNA
Replication
286
Unwinding the
DNA
Helix
286
Initiation of
DNA
Synthesis with an
RNA
Primer
287
Continuous and Discontinuous
DNA
Synthesis of
Antiparallel
Strands
287
Concurrent Synthesis on the Leading and Lagging Strands
288
Integrated Proofreading and Error Correction
288
11.4
A Summary of
DNA
Replication in Prokaryotes
289
11.5
Replication in Prokaryotes Is Controlled by a Variety
of Genes
289
11.6
Eukaryotic
DNA
Synthesis Is Similar to Synthesis
in Prokaryotes, but More Complex
290
Multiple Replication Origins
290
Eukaryotic
DNA
Polymerases
291
11.7
Telomeres Provide Structural Integrity at Chromosome
Ends but Are Problematic to Replicate
292
Telomere Structure
292
Replication at the Telomere
292
11.8 DNA
Recombination, Like
DNA
Replication, Is Directed
by Specific Enzymes
294
11.9
Gene Conversion Is a Consequence of
DNA
Recombination
294
■
GENETICS, TECHNOLOGY, AND SOCIETY
Telomeres: Defining the End of the Line?
296
12.1
Viral and Bacterial Chromosomes Are Relatively Simple
DNA
Molecules
303
12.2
Supercoiling Facilitates Compaction of the
DNA
of Viral
and Bacterial Chromosomes
305
12.3
Specialized Chromosomes Reveal Variations in the
Organization of
DNA 306
Polytene Chromosomes
306
Lampbrush Chromosomes
307
12.4 DNA
Is Organized into Chromatin in Eukaryotes
308
Chromatin Structure and Nucleosomes
308
High-Resolution Studies of the Nucleosome Core
310
Heterochromatin
372
12.5 Chromosome Banding Differentiates Regions along
the Mitotic Chromosome
312
12.6
Eukaryotic Chromosomes Demonstrate Complex
Sequence Organization Characterized
by Repetitive
DNA 373
Satellite
DNA 373
Centromeric DNA
Sequences
314
Telomeric
DNA
Sequences
375
Middle Repetitive Sequences: VNTRs and STRs
376
Repetitive Transposed Sequences: SINEs and LINEs
376
Middle Repetitive Multiple-Copy Genes
376
12.7
The Vast Majority of a Eukaryotic Genome Does Not
Encode Functional Genes
376
■
EXPLORING GENOMICS
UniGeneTranscript Maps
377
Chapter Summary 37S
Insights and Solutions 37S
Problems and Discussion Questions
379
Extra-Spicy Problems
320
■
EXPLORING GENOMICS
Entrez: A
Gateway to Genome Resources
Chapter Summary
298
Insights and Solutions
298
Problems and Discussion Questions
299
Extra-Spicy Problems
300
297
CONTENTS
13
Recombinant
DNA Technology
and Gene Cloning
322
13.1
Recombinant
DNA Technology Combines
Several
Laboratory Techniques
323
13.2
Restriction Enzymes Cut
DNA
at Specific Recognition
Sequences
323
13.3
Vectors Carry
DNA
Molecules to Be Cloned
325
Plasmici
Vectors
325
Lambda
(λ)
Phage Vectors
326
Cosmid Vectors
327
Bacterial Artificial Chromosomes
328
Expression Vectors
328
13.4 DNA Was
First Cloned in Prokaryotic Host Cells
329
13.5
Yeast Cells Are Used as Eukaryotic Hosts
for Cloning
330
13.6
Plant and Animal Cells Can Be Used as Host Cells
for Cloning
330
Plant Cell Hosts
331
Mammalian Cell Hosts
331
13.7
The Polymerase Chain Reaction Makes
DNA
Copies
Without Host Cells
332
Limitations of PCR
333
Other Applications of PCR
333
13.8
Recombinant
Libraries Are Collections
of Cloned Sequences
333
Genomic Libraries
333
Chromosome-Specific Libraries
334
cDNA Libraries
335
13.9
Specific Clones Can Be Recovered from a Library
336
Probes Identify Specific Clones
336
Screening a Library
337
13.10
Cloned Sequences Can Be Analyzed
in Several Ways
338
Restriction Mapping
338
Nucleic Acid Blotting
339
13.11 DNA
Sequencing Is the Ultimate Way to Characterize
a Clone
341
Recombinant
DNA
Technology and Genomics
342
■
GENETICS, TECHNOLOGY, AND SOCIETY
Beyond Dolly: The Cloning of Humans
344
■
EXPLORING GENOMICS
Manipulating
Recombinant
DNA:
Restriction Mapping and
Designing PCR Primers
345
Chapter Summary
346
Insights and Solutions
347
Problems and Discussion Questions
347
Extra-Spicy Problems
350
PART THREE
GENE EXPRESSION,
REGULATION,
AND DEVELOPMENT
14
The Genetic Code
and Transcription
352
14.1
The Genetic Code Uses Ribonucleotide Bases
as "Letters"
353
14.2
Early Studies Established the Basic Operational
Patterns of the Code
354
The Triplet Nature of the Code
354
The
Nonoverlapping
Nature of the Code
354
The Commaless and Degenerate Nature of the Code
355
14.3
Studies by Nirenberg, Matthaei, and Others Led
to Deciphering of the Code
355
Synthesizing Polypeptides in a Cell-Free System
355
Homopolymer Codes
356
Mixed Copolymers
356
The Triplet Binding Assay
357
Repeating Copolymers
358
14*4
The Coding Dictionary Reveals Several Interesting
Patterns among the
64
Codons
359
Degeneracy and the Wobble Hypothesis
359
The Ordered Nature of the Code
360
Initiation, Termination, and Suppression
367
14.5
The Genetic Code Has Been Confirmed in Studies
of Phage MS2
367
14.6
The Genetic Code Is Nearly Universal
367
14.7
Different Initiation Points Create Overlapping
Genes
362
14Λ
Transcription Synthesizes
RNA
on
a
DNA
Template
363
CONTENTS
14.9
Studies
with Bactena and Phages Provided Evidence
for the Existence of mRNA
363
14.10
RNA
Polymerase Directs
RNA
Synthesis
364
Promoters, Template Binding, and the
σ
Subunit
364
Initiation, Elongation, and Termination of
RNA
Synthesis
365
14.11
Transcription in Eukaryotes Differs from Prokaryotic
Transcription in Several Ways
366
Initiation ofTranscription in Eukaryotes
366
Recent Discoveries Concerning
RNA
Polymerase Function
367
Heterogeneous Nuclear
RNA
and Its Processing: Caps
and Tails
368
14.12
The Coding Regions of
E u kary o ti c
Genes Are
Interrupted by Intervening Sequences
369
Splicing Mechanisms: Autocatalytic RNAs
370
Splicing Mechanisms: The Spliceosome
371
RNA
Editing Modifies the Final Transcript
372
14.13
Transcription Has Been Visualized by Electron
Microscopy
373
GENETICS, TECHNOLOGY, AND SOCIETY
Nucleic Acid-Based Gene Silencing: Attacking the Messenger
373
■
EXPLORING GENOMICS
Transcriptome
Databases and Noncoding
RNA
Databases
374
Chapter Summary
376
Insights and Solutions
376
Problems and Discussion Questions
377
Extra-Spicy Problems
378
15
Translation and Proteins
381
15.1
Translation of mRNA Depends on Ribosomes
and Transfer RNAs
382
Ribosomal Structure
382
tRNA Structure
383
Charging tRNA
385
15.2
Translation of mRNA Can Be Divided
into Three Steps
386
Initiation
386
Elongation
387
Termination
388
Polyribosomes
388
15.3
Crystallographic Analysis Has Revealed Many Details
about the Functional Prokaryotic Ribosome
389
15.4
Translation Is More Complex in Eukaryotes
390
15.5
The Initial Insight That Proteins Are Important
in Heredity Was Provided by the Study of Inborn Errors
of Metabolism
390
Phenylketonuria
397
15.6
Studies of
Neurospora
Led to the One-Gene: One-
Enzyme Hypothesis
392
Analysis of
Neurospora
Mutants by Beadle and Tatum
392
Genes and Enzymes: Analysis of Biochemical Pathways
392
15.7
Studies of Human Hemoglobin Established That One
Gene Encodes One Polypeptide
394
Sickle-Cell Anemia
394
Human Hemoglobins
396
15.8
The Nucleotide Sequence of a Gene and the
Amino
Acid
Sequence of the Corresponding Protein Exhibit
Colinearity
396
15.9
Variation in Protein Structure Provides the Basis
of Biological Diversity
397
15.10
Posttranslational Modification Alters the Final Protein
Product
399
15.11
Proteins Function in Many Diverse Roles
400
15.12
Proteins Are Made Up of One or More
Functional Domains
401
Exon Shuffling
407
The Origin of Protein Domains
402
■
GENETICS, TECHNOLOGY, AND SOCIETY
Mad Cow Disease: The Prion Story
403
■
EXPLORING GENOMICS
Translation Tools, Swiss-Prot, and Protein-Protein
Interaction Databases
404
Chapter Summary
405
Insights and Solutions
406
Problems and Discussion Questions
406
Extra-Spicy Problems
407
CONTENTS
rió
Gene Mutation and DNA
Repair
470
16.1
Gene Mutations Are Classified in Various Ways
411
Spontaneous and Induced Mutations
47 7
The Luria-Delbruck Fluctuation Test: Are Mutations Spontaneous
or Adaptive?
47 7
Classification Based on Location of Mutation
413
Classification Based on Type of Molecular Change
473
Classification Based on Phenotypic Effects
4 74
16.2
Spontaneous Mutations Arise from Replication Errors
and Base Modifications
475
DNA
Replication Errors
475
Replication Slippage
475
Tautomerie
Shifts
475
Depurination and Deamination
475
Oxidative Damage
477
Transposons
477
16.3
Induced Mutations Arise from
DNA
Damage Caused
by Chemicals and Radiation
477
Base Analogs
477
Alkylating Agents and Acridine Dyes
478
Ultraviolet Light
418
Ionizing Radiation
418
16.4
Genomics and Gene Sequencing Have Enhanced Our
Understanding of Mutations in Humans
479
ABO Blood Groups
479
Muscular Dystrophy
420
Fragile X Syndrome,
Myotonie
Dystrophy,
and
Huntington
Disease
420
16.5
The Ames Test Is Used to Assess the Mutagenicity of
Compounds
427
16.6
Organisms Use
DNA
Repair Systems to Counteract
Mutations
427
Proofreading and Mismatch Repair
422
Postreplication Repair and the SOS Repair System
422
Photoreactivation Repair: Reversal of UV Damage
423
Base and Nucleotide Excision Repair
423
Nucleotide Excision Repair and Xeroderma Pigmentosum in
Humans
424
Double-Strand Break Repair in Eukaryotes
425
16.7
Geneticists Use Mutations to Identify Genes and Study
Gene Function
426
| Hemophilia in the Royal Family
427
■
GENETICS, TECHNOLOGY, AND SOCIETY
In the Shadow of Chernobyl
428
■
EXPLORING GENOMICS
Sequence Alignment to Identify a Mutation
429
Chapter Summary
430
Insights and Solutions
437
Problems and Discussion Questions
437
Extra-Spicy Problems
432
17
Regulation of Gene Expression
in Prokaryotes
435
17.1
Prokaryotes Regulate Gene Expression in Response
to Environmental Conditions
436
17.2
Lactose Metabolism in
E. coli
Is Regulated
by an Inducible System
436
Structural Genes
437
The Discovery of Regulatory Mutations
438
The Operon Model: Negative Control
438
Genetic Proof of the Operon Model
439
Isolation ofthe
Repressor
447
173
The Catabolite-Activating Protein (CAP) Exerts Positive
Control over the lac Operon
442
17.4
Crystal Structure Analysis of
Repressor
Complexes Has
Confirmed the Operon Model
443
17.5
The Tryptophan
(trp)
Operon in
E. coli
Is a Repressible
Gene System
444
Evidence for the
trp
Operon
445
17.6
Attenuation Is a Critical Process in Regulation
of the
trp
Operon in
E. coli
446
CONTENTS
17.7
TRAP and AT Proteins Govern Attenuation
in B. subtil'is
446
17.8
The
ara Operon
Is Controlled by a Regulator Protein
That Exerts Both Positive and Negative Control
448
■
GENETICS, TECHNOLOGY, AND SOCIETY
Quorum Sensing: How Bacteria Talk to One Another
450
■
EXPLORING GENOMICS
Microarrays and MicrobesOnline
Chapter Summary
452
Insights and Solutions
453
Problems and Discussion Questions
Extra-Spicy Problems
454
451
453
18
Regulation of Gene Expression
in Eukaryotes
457
18.1
Eukaryotic Gene Regulation Can Occur at Any of the
Steps Leading from
DNA
to Protein Product
458
18.2
Eukaryotic Gene Expression Is Influenced by
Chromosome Organization and Chromatin
Modifications
459
Chromosome Territories and Transcription Factories
459
Chromatin Remodeling
460
DNA Methylation 467
18.3
Eukaryotic Gene Transcription Is Regulated at Specific
C/s-Acting Sites
463
Promoters
463
Enhancers and Silencers
464
18.4
Eukaryotic Transcription Is Regulated by Transcription
Factors that Bind to C/'s-Acting Sites
465
The Human Metallothionein MA Gene: Multiple C/s-Acting Elements
and Transcription Factors
465
Functional Domains of Eukaryotic Transcription Factors
466
18.5 Activators and
Repressore
Regulate Transcription by
Binding to Cis-Acting Sites and Interacting with Other
Transcription Factors
467
Formation of the Transcription Initiation Complex
467
Interactions of the General Transcription Factors with Transcription
Activators
467
18.6
Gene Regulation in a Model Organism: Inducible
Transcription of the GAL Genes of Yeast
469
18.7
Posttranscriptional Gene Regulation Occurs at All
the Steps from
RNA
Processing to Protein
Modification
470
Alternative Splicing of mRNA
471
Sex Determination in
Drosophila:
A Model for Regulation
of Alternative Splicing
472
Control of mRNA Stability
473
Translational and Post-translational Controls
474
18.8
RNA
Silencing Controls Gene Expression
in Several Ways
476
The Molecular Mechanisms of
RNA
Silencing
476
RNA
Silencing in Biotechnology and Therapy
477
■
GENETICS, TECHNOLOGY, AND SOCIETY
Gene Regulation and Human Genetic Disorders
478
■
EXPLORING GENOMICS
Tissue-Specific Gene Expression and the ENCODE (ENCyclopedia
of
DNA
Elements) Project
479
Chapter Summary
480
Insights and Solutions
480
Problems and Discussion Questions
481
Extra-Spicy Problems
482
19
Developmental Genetics
of Model Organisms
484
19.1
Developmental Genetics Seeks to Explain How a
Differentiated State Develops from Genomic Patterns
of Expression
485
19.2
Evolutionary Conservation of Developmental
Mechanisms Can Be Studied Using Model
Organisms
486
Model Organisms in the Study of Development
486
Analysis of Developmental Mechanisms
487
Basic Concepts in Developmental Genetics
487
19.3
Genetic Analysis of Embryonic Development in
Drosophila
Revealed How the Body Axis of Animals
Is Specified
487
Overview of
Drosophila
Development
487
Genetic Analysis of
Embryogenesis 488
19.4
Zygotic Genes Program Segment Formation in
Drosophila
489
Gap Genes
490
Pair-Rule Genes
490
Segment Polarity Genes
497
Segmentation Genes in Mice and Humans
497
19.5
Homeotic Selector Genes Specify Parts
of the Adult Body
492
Homeotic Selector (Hox) Genes in
Drosophila
492
CONTENTS
Нох
Genes and Human
Genetic Disorders
493
Control of
Нол
Gene Expression
495
19.6
Cascades of Gene Action Control Differentiation
495
19.7
Plants Have Evolved Systems That Parallel the Hox
Genes of Animals
496
Homeotic Genes in Arabidopsis
496
Evolutionary Divergence in Homeotic Genes
498
19.8
Cell-Cell Interactions in Development Are Modeled
in
C. elegans
498
Signaling Pathways in Development
498
The Notch Signaling Pathway
499
Overview of
C elegans
Development
499
Genetic Analysis of Vulva Formation
500
Notch Signaling Systems in Humans
501
19.9
Transcriptional Networks Control Gene Expression
in Development
502
A General Model of a Transcription Network
502
Transcriptional Networks in
Drosophila
Segmentation
502
■
GENETICS, TECHNOLOGY, AND SOCIETY
Stem Cell Wars
505
■
EXPLORING GENOMICS
Gene Collections for Model Organisms
506
Chapter Summary
506
Insights and Solutions
507
Problems and Discussion Questions
508
Extra-Spicy Problems
509
20
Cancer and Regulation
of the Cell Cycle
57 7
Cell-Cycle Control and Checkpoints
576
Control of Apoptosis
577
20.4
Many Cancer-Causing Genes Disrupt Control
of the Cell Cycle 57S
The
ras Proto-oncogenes
579
The cyclin
DI
and cyclin
E
Proto-oncogenes
520
The p53 Tumor-suppressor Gene
520
The RB
7
Tumor-suppressor Gene
527
20.5
Cancer Cells Metastasize, Invading Other Tissues
522
20.6
Predisposition to Some Cancers Can Be Inherited
522
20.7
Viruses Contribute to Cancer in Both Humans
and Animals
524
20.8
Environmental Agents Contribute
to Human Cancers
525
■
GENETICS, TECHNOLOGY, AND SOCIETY
Cancer in the Cross-Hairs: Taking Aim with Targeted
Therapies
526
■
EXPLORING GENOMICS
The Cancer Genome Anatomy Project (CGAP)
527
Chapter Summary
527
Insights and Solutions
528
Problems and Discussion Questions
529
Extra-Spicy Problems
530
PART FOUR
GENOMICS
21
Genomics, Bioinformatics,
and Proteomics
537
20.1
Cancer Is a Genetic Disease That Arises at the Level of
Somatic Cells
572
What Is Cancer?
572
The Clonal Origin of Cancer Cells
573
Cancer As a Multistep Process, Requiring Multiple
Mutations
573
20.2
Cancer Cells Contain Genetic Defects Affecting
Genomic Stability,
DNA
Repair, and Chromatin
Modifications
574
Genomic Instability and Defective
DNA
Repair
574
Chromatin Modifications and Cancer Epigenetics
575
20.3
Cancer Cells Contain Genetic Defects Affecting
Cell-Cycle Regulation
576
The Cell Cycle and Signal Transduction
576
21.1
Whole-Genome Shotgun Sequencing Is a Widely Used
Method for Sequencing and Assembling Entire
Genomes
532
High-Throughput Sequencing
533
The Clone-by-Clone Approach
534
Draft Sequences and Checking for Errors
536
21.2 DNA
Sequence Analysis Relies on Bioinformatics
Applications and Genome Databases
536
Annotation to Identify Gene Sequences
537
Hallmark Characteristics of a Gene Sequence Can Be Recognized
During Annotation
537
213
Functional Genomics Attempts to Identify Potential
Functions of Genes and Other Elements
in a Genome
540
CONTENTS
Predicting Gene and Protein Functions by Sequence Analysis
540
Predicting Function from Structural Analysis of Protein Domains
and Motifs
547
21.4
The Human Genome Project Reveals Many Important
Aspects of Genome Organization in Humans
541
Origins of the Project
541
Major Features of the Human Genome
542
21.5
The "Omics" Revolution Has Created a New Era of
Biological Research Methods
545
21.6
Prokaryotic and Eukaryotic Genomes Display Common
Structural and Functional Features and Important
Differences
545
Unexpected Features of Prokaryotic Genomes
546
Organizational Patterns of Eukaryotic Genomes 54S
The Yeast Genome
549
Plant Genomes
549
The Minimum Genome for Living Cells
549
21.7
Comparative Genomics Analyzes and Compares
Genomes from Different Organisms
550
The Dog as a Model Organism
550
The Chimpanzee Genome
557
The Rhesus Monkey Genome
552
The Sea Urchin Genome
552
Evolution and Function of Multigene Families
553
21.8
Metagenomics Applies Genomics Techniques
to Environmental Samples
555
21.9
Transcriptome Analysis Reveals Profiles of Expressed
Genes in Cells and Tissues
556
21.10
Proteomics Identifies and Analyzes the Protein
Composition of Cells
559
Reconciling the Number of Genes and the Number of Proteins
Expressed by a Cell or Tissue
560
Proteomics Technologies: Two-Dimensional Gel Electrophoresis for
Separating Proteins
560
Proteomics Technologies: Mass Spectrometry for Protein
Identification
567
Identification of Collagen in Tyrannosaurus rex and
Mammut
americanum Fossils
563
Environment-Induced Changes in the M. genitalium
Proteome
564
21.11
Systems Biology Is an Integrated Approach
to Studying Interactions of All Components
of an Organism's Cells
565
■
GENETICS, TECHNOLOGY, AND SOCIETY
Personalized Genome Projects and the Quest
for the
$1000
Genome
567
■
EXPLORING GENOMICS
Contigs, Shotgun Sequencing, and Comparative Genomics
Chapter Summary
569
Insights and Solutions
570
Problems and Discussion Questions
577
Extra-Spicy Problems
573
568
r-
22
Genome Dynamics:
Transposons,
Immunogenetics,
and Eukaryotic Viruses
574
22.1
Transposable Elements Are Present in the Genomes
of Both Prokaryotes and Eukaryotes
575
Insertion Sequences
575
Bacterial
Transposons
576
The
Ас
-Ds
System in Maize
577
Mobile Genetic Elements in Peas: Mendel Revisited 57S
Copia
Elements in
Drosophila
578
Ρ
Element
Transposons
in
Drosophila
579
Transposable Elements in Humans
579
22.2
Transposons Use
Two Different Methods to Move
Within Genomes
579
DNA
Transposons
and Transposition
580
Retrotransposons and Transposition
580
22.3
Transposons
Create Mutations and Provide Raw
Material for Evolution
583
Transposon Silencing
583
Transposons,
Mutations, and Gene Expression
583
Transposons
and Evolution
585
ZIA Immunoglobulin
Genes Undergo Programmed Genome
Rearrangements
585
The Immune System and Antibody Diversity
585
CONTENTS
Immunoglobulin and TCR
structure
586
The Generation of Antibody Diversity and Class Switching
587
22.5 Eukaryotic Viruses Shuttle Genes Within and Between
Genomes
589
22.6
Retroviruses Move Genes In and Out of Genomes
and Alter Host Gene Expression
589
The Retroviral Life Cycle
590
Retroviral Repercussions for Genome Rearrangement
592
22.7
Large
DNA
Viruses Gain Genes by Recombining
with Other Host and Viral Genomes
594
Gene Transfer between Cellular and Viral Genomes
594
Gene Transfer between Viruses
596
22.8
RNA
Viruses Acquire Host Genes and Evolve
New Forms
596
The Life Cycle of
RNA
Viruses
597
Gene Transfer and Genome Variability in
RNA
Viruses
598
■
EXPLORING GENOMICS
Avian Influenza Information and Databases
600
Chapter Summary
607
Insights and Solutions
607
Problems and Discussion Questions
602
Extra-Spicy Problems
603
r23
Genomic Analysis—Dissection
of Gene Function
605
23.1
Geneticists Use Model Organisms to Answer Genetic
and Genomic Questions
606
Features of Genetic Model Organisms
606
Yeast as a Genetic Model Organism
606
Drosophila
as a Genetic Model Organism
609
The Mouse as a Genetic Model Organism
67 7
23.2
Geneticists Dissect Gene Function Using Mutations
and Forward Genetics
672
Generating Mutants with Radiation, Chemicals, andTransposon
Insertion
672
Screening for Mutants
672
Selecting for Mutants
674
Defining the Genes
674
Dissecting Genetic Networks and Pathways
675
Extending the Analysis: Suppressors and Enhancers
616
Extending the Analysis: Cloning the Genes
677
Extending the Analysis: Gene Product Functions
677
23.3
Geneticists Dissect Gene Function Using Genomics
and Reverse Genetics
618
Genetic Analysis Beginning with a Purified Protein 67S
Genetic Analysis Beginning with a Mutant Model Organism
679
Genetic Analysis Beginning with the Cloned Gene
or
DNA
Sequence
620
Genetic Analysis Using Gene-Targeting Technologies
622
23.4
Geneticists Dissect Gene Function Using RNAi,
Functional Genomic, and Systems Biology
Technologies
625
RNAi: Genetics without Mutations
625
High-Throughput and Functional Genomics Techniques
626
Systems Biology and Gene Networks
627
■
GENETICS, TECHNOLOGY, AND SOCIETY
Whose
DNA
Is It, Anyway?
627
Щ
EXPLORING GENOMICS
The Knockout Mouse Project
628
Chapter Summary
629
Insights and Solutions
630
Problems and Discussion Questions
631
Extra-Spicy Problems
632
-24
Applications and Ethics of Genetic
Engineering and Biotechnology
633
24.1
Genetically Engineered Organisms Synthesize a Wide
Range of Biological and Pharmaceutical Products
634
Insulin Production in Bacteria
634
Transgenic Animal Hosts and Pharmaceutical Products
635
Recombinant
DNA
Approaches for Vaccine Production and
Transgenic Plants with Edible Vaccines
637
CONTENTS
xxiii
■
EXPLORING GENOMICS
Genomics Applications
to Identify Gene
Expression
Signatures of
Breast Cancer
662
Chapter Summary
663
Insights and Solutions
663
Problems and Discussion Questions
664
Extra-Spicy Problems
666
24.2
Genetic Engineering of Plants Has Revolutionized
Agriculture
638
Transgenic Crops for Herbicide and Pest Resistance
639
Nutritional Enhancement of Crop Plants
641
24.3
Transgenic Animals with Genetically Enhanced
Characteristics Have the Potential to Serve Important
Roles in Agriculture and Biotechnology
647
24.4
Genetic Engineering and Genomics Are Transforming
Medical Diagnosis
643
Genetic Tests Based on Restriction Enzyme Analysis
643
Genetic Tests Using Allele-Specific Oligonucleotides
644
Genetic Testing Using
DNA Microarrays
and Genome Scans
646
Genetic Analysis Using Gene Expression Microarrays
648
Application of Microarrays for Gene Expression and Genotype
Analysis of Pathogens
650
24.5
Genetic Engineering and Genomics Promise New,
More Targeted Medical Therapies
652
Pharmacogenomics and Rational Drug Design
652
Gene Therapy
653
24.6 DNA
Profiles Help Identify Individuals
656
DNA
Profiling Based on
DNA
Minisatellites
(VNTRs)
656
DNA
Profiling Based on
DNA
Microsatellites
657
Terrorism and Natural Disasters Force Development of New
Technologies 65S
Forensic Applications of
DNA
Profiling
658
24.7
Genetic Engineering, Genomics, and Biotechnology
Create Ethical, Social, and Legal Questions
659
Concerns about Genetically Modified Organisms
and GM Foods
659
Genetic Testing and Ethical Dilemmas
659
The Ethical Concerns Surrounding Gene Therapy
660
The Ethical, Legal, and Social Implications (ELSI) Program
660
DNA
and Gene Patents
660
■
GENETICS, TECHNOLOGY, AND SOCIETY
Gene Therapy—Two Steps Forward or Two Steps Back?
667
PART FIVE
GENETICS OF ORGANISMS
AND POPULATION
25
Quantitative Genetics
and Multifactorial Traits
668
25.1
Not All Polygenic Traits Show Continuous
Variation
669
25.2
Quantitative Traits Can Be Explained
in Mendelian Terms
670
The Multiple-Gene Hypothesis for Quantitative Inheritance
670
Additive
Alíeles:
The Basis of Continuous Variation
677
Calculating the Number of Polygenes
677
25.3
The Study of Polygenic Traits Relies
on Statistical Analysis
672
The Mean
672
Variance
673
Standard Deviation
673
Standard Error of the Mean
673
Covariance
673
Analysis of a Quantitative Character
674
25.4
Heritability Values Estimate the Genetic Contribution
to Phenotypic Variability
674
Broad-Sense Heritability
675
Narrow-Sense Heritability
676
Artificial Selection
676
25.5
Twin Studies Allow an Estimation of Heritability
in Humans
678
25.6
Quantitative Trait Loci Can Be Mapped
678
GENETICS, TECHNOLOGY, AND SOCIETY
The Green Revolution Revisited: Genetic Research with Rice
680
■
EXPLORING GENOMICS
ALFRED and Quantitative Trait Loci (QTLs)
Chapter Summary
682
Insights and Solutions
682
681
xxiv
CONTENTS
27
Population Genetics
710
Problems and Discussion Questions
683
Extra-Spicy Problems
685
r26
Genetics and Behavior
688
26.1
Behavioral Differences Between Genetic Strains
Can Be Identified
689
Inbred Mouse Strains: Differences in Alcohol Preference
690
Emotional Behavior Differences in Inbred Mouse Strains
690
26.2
Artificial Selection Can Establish Genetic Strains with
Behavioral Differences
692
Maze Learning in Rats
692
Artificial Selection forGeotaxis in
Drosophila
693
263
Drosophila
Is a Model Organism for Behavior
Genetics
694
Genetic Control of Courtship
695
Dissecting Behavior with Genetic Mosaics
695
Functional Analysis of the Nervous System
699
Drosophila
Can Learn and Remember
700
26.4
Human Behavior Has Genetic Components
701
Single Genes and Behavior:
Huntington
Disease
707
ATransgenic Mouse Model of
Huntington
Disease
701
Mechanisms of
Huntington
Disease
702
Multifactorial Behavioral Traits: Schizophrenia
702
Щ
GENETICS, TECHNOLOGY, AND SOCIETY
Genetics of Sexual Orientation
704
■
EXPLORING GENOMICS
HomoloGene: Searching for Behavioral Genes
Chapter Summary
706
Insights and Solutions
706
Problems and Discussion Questions
707
Extra-Spicy Problems
708
70S
27.1
Alíele
Frequencies in Population Gene Pools Vary
in Space and Time
711
212.
The Hardy-Weinberg Law Describes the Relationship
between
Alíele
Frequencies and Genotype Frequencies
in an Ideal Population
711
21
A The Hardy-Weinberg Law Can Be Applied
to Human Populations
713
Calculating an Allele's Frequency
713
Testing for Hardy-Weinberg Equilibrium
775
27.4
The Hardy-Weinberg Law Can Be Used to Study
Multiple
Alíeles,
Х
-Linked Traits,
and
Hétérozygote
Frequencies
776
Calculating Frequencies for Multiple
Alíeles
in Hardy-Weinberg
Populations
776
Calculating Frequencies forX-linked Traits
776
Calculating
Hétérozygote
Frequency
777
27.5
Natural Selection Is a Major Force Driving
Alíele
Frequency Change 77S
Natural Selection 77S
Fitness and Selection
718
Selection in Natural Populations
720
Natural Selection and Quantitative Traits
727
27.6
Mutation Creates New
Alíeles
in a Gene Pool
722
27.7
Migration and Gene Flow Can Alter
Alíele
Frequencies
724
21Л
Genetic Drift Causes Random Changes in
Alíele
Frequency in Small Populations
726
Founder Effects in Human Populations
726
Alíele
Loss during a Bottleneck
727
27.9
Nonrandom Mating Changes Genotype Frequency
but Not
Alíele
Frequency
728
Coefficient of Inbreeding
728
Outcomes of Inbreeding
729
■
GENETICS, TECHNOLOGY, AND SOCIETY
Tracking Our Genetic Footprints out of Africa
731
■
EXPLORING GENOMICS
Single-Nucleotide Polymorphisms (SNPs) and the
Y
Chromosome
Haplotype Reference Database (YHRD)
732
Chapter Summary
733
Insights and Solutions
733
Problems and Discussion Questions
734
Extra-Spicy Problems
735
CONTENTS xxv
Evolutionary Genetics
737
-29
Conservation Genetics
762
28.1
Speciation Can Occur by Transformation or by Splitting
Gene Pools
738
28.2
Most Populations and Species Harbor Considerable
Genetic Variation
739
Artificial Selection
739
Variations in
Amino
Acid Sequence
740
Variations in Nucleotide Sequence
740
Explaining the High Level of Genetic Variation in Populations
747
28.3
The Genetic Structure of Populations Changes across
Space and Time
742
28.4
Defining a Species Is a Challenge
for Evolutionary Biology
744
28.5
Reduced Gene Flow, Selection, and Genetic Drift
Can Lead to Speciation
745
Examples of Speciation
746
The Minimum Genetic Divergence for Speciation
747
The Rate of Speciation
748
28.6
Genetic Differences Can Be Used to Reconstruct
Evolutionary History
750
Constructing Evolutionary Trees from Genetic Data
750
Molecular Clocks
752
28.7
Reconstructing Evolutionary History Allows Us
to Answer Many Questions
753
Transmission of
HIV 753
Neanderthals and Modern Humans
754
Neanderthal Genomics
754
■
GENETICS, TECHNOLOGY, AND SOCIETY
What Can We Learn from the Failure of the Eugenics
Movement?
756
■
EXPLORING GENOMICS
ClustalW and Phylogenetic Analysis
757
Chapter Summary
758
Insights and Solutions
758
Problems and Discussion Questions
759
Extra-Spicy Problems
759
29.1
Genetic Diversity Is the Goal of Conservation
Genetics
764
Loss of Genetic Diversity
765
Identifying Genetic Diversity
765
29.2
Population Size Has a Major Impact
on Species Survival
766
29.3
Genetic Effects Are More Pronounced in Small, Isolated
Populations
768
Genetic Drift
768
Inbreeding
768
Reduction in Gene Flow
769
29.4
Genetic Erosion Threatens Species' Survival
770
29.5
Conservation of Genetic Diversity Is Essential
to Species Survival
777
Ex Situ Conservation: Captive Breeding
777
Rescue of the Black-Footed Ferret through Captive Breeding
772
Ex Situ Conservation and Gene Banks
772
In Situ Conservation
773
Population Augmentation
773
■
GENETICS, TECHNOLOGY, AND SOCIETY
Gene Pools and Endangered Species: The Plight of the Florida
Panther
774
■
EXPLORING GENOMICS
PopSet: Examining the Genomes of Endangered Species
775
Chapter Summary
776
Insights and Solutions
777
Problems and Discussion Questions
777
Extra-Spicy Problems
778
Appendix A Glossary A-1
Appendix
В
Answers to Selected Problems A-18
AppendixC Selected Readings A-57
Credits
С
7
Index
1-1 |
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| index_date | 2024-07-02T21:06:24Z |
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| institution | BVB |
| isbn | 0321540980 9780321540980 |
| language | English |
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| spelling | Concepts of genetics William S. Klug ... Genetics 9. ed. ; international ed. San Francisco, Calif. [u.a.] Pearson Education 2009 getr. Zähl. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Bis 8. Aufl. u.d.T.: Klug, William S.: Concepts of genetics Genetik (DE-588)4071711-2 gnd rswk-swf (DE-588)4123623-3 Lehrbuch gnd-content Genetik (DE-588)4071711-2 s 1\p DE-604 Klug, William S. 1941- Sonstige (DE-588)135813859 oth Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016537883&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Concepts of genetics Genetics Genetik (DE-588)4071711-2 gnd |
| subject_GND | (DE-588)4071711-2 (DE-588)4123623-3 |
| title | Concepts of genetics |
| title_alt | Genetics |
| title_auth | Concepts of genetics |
| title_exact_search | Concepts of genetics |
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| title_full | Concepts of genetics William S. Klug ... |
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| title_full_unstemmed | Concepts of genetics William S. Klug ... |
| title_short | Concepts of genetics |
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| topic | Genetics Genetik (DE-588)4071711-2 gnd |
| topic_facet | Genetics Genetik Lehrbuch |
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