The human genome: a user's guide
Gespeichert in:
| Beteiligte Personen: | , |
|---|---|
| Format: | Buch |
| Sprache: | Englisch |
| Veröffentlicht: |
Amsterdam [u.a.]
Elsevier / Academic Press
2011
|
| Ausgabe: | 3. ed. |
| Schlagwörter: | |
| Links: | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=024573296&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| Beschreibung: | First ed. by R. Scott Hawley and Catherine A. Mori. |
| Umfang: | XIV, 585 S. Ill., graph. Darst. |
| ISBN: | 9780123334459 |
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Datensatz im Suchindex
| _version_ | 1819284408564187136 |
|---|---|
| adam_text | Titel: The human genome
Autor: Richards, Julia E
Jahr: 2011
Contents
Acknowledgments xi
Prologue: The Answer in a Nutshell xiii
_____________I____________
HOW GENES SPECIFY A
TRA1T
1 The Basics of Heredity: How Traits
Are Passed Along in Families 3
1.1 Mendel s Laws 4
1.2 Selection: Artificial, Natural, and Sexual 12
1.3 Human Genetic Diversity 15
1.4 Human Dominant Inheritance 16
1.5 Human Recessive Inheritance 19
1.6 Complementation 27
1.7 Epistasis and Pleiotropy 31
1.8 Complex Syndromes 32
1.9 One Man s Disease Is Another Man s
Trait 34
2 The Double Helix: How Cells Preserve
Genetic Information 41
II
2.1 Inside the Cell 42
2.2 DNA: The Repository of Genetic Information
2.3 DNA and the Double Helix 47
2.4 DNA Replication 50
2.5 Chromatin 56
2.6 What Are Chromosomes? 57
2.7 Euchromatin and Heterochromatin 64
2.8 The Mitochondrial Chromosome: The Other
Genome in the Human Genome 65
2.9 DNA in vitro 67
44
HOW GENES FUNCTION
The Central Dogma of Molecular
Biology: How Cells Orchestrate the
Use of Genetic Information 83
3.1 What Is RNA? 84
3.2 What Is RNA For? 87
3.3 Transcription of RNA 89
3.4 Orchestrating Expression 91
3.5 Monitoring Gene Expression 95
3.6 Interaction of Transcription Factors 98
3.7 Inducible Genes 102
3.8 Epigenetic Control of Gene Expression 104
3.9 What Constitutes Normal? 106
4 The Genetic Code: How the Cell
Makes Proteins from Genetic Information
Encoded in mRNA Molecules 115
4.1 The Genetic Code 116
4.2 Moving Things In and Out of the Nucleus 119
4.3 The Central Dogma of Molecular Biology 120
4-4 Translation 120
4.5 Messenger RNA Structure 122
4.6 Splicing 124
4-7 Modular Genes 128
4.8 What Are Proteins? 130
4.9 Gene Products and Development 135
5 We Are All Mutants: How Mutation
Alters Function 143
5.1 What Is a Mutation? 144
5.2 The Process of Mutation 147
Vll
vm
CONTENTS
5.3 How We Detect Mutations 153
5.4 Basic Mutations 159
5.5 Mutations in DNA Sequences that Regulate Gene
Expression 166
5.6 Copy Number Variation: Too Much or Too Little
of a Good Thing 167
5.7 Expanded Repeat Traits 169
5.8 The Male Biological Clock 180
5.9 Mutation Target Size 180
5.10 Absent Essentials and Monkey Wrenches 183
III
HOW CHROMOSOMES MOVE
7.6 Reactivation of the Inactive X Chromosome in
the Female Germline 255
7.7 X Chromosome Inactivation During
Male Meiosis 255
7.8 X Inactivation and the Phänotypes of Sex
Chromosome Aneuploidy 257
7.9 The Structure of the Human Y Chromosome 259
7.10 X-Linked Recessive Inheritance 262
7.11 X-Linked Dominant Inheritance 265
IV
HOW GENES CONTRIBUTE
TO COMPLEX TRAITS
6 Mitosis and Meiosis: How Cells
Move Your Genes Around 199
6.1 The Cell Cycle 200
6.2 Mitosis 201
6.3 Gametogenesis: What Is Meiosis Trying to
Accomplish? 207
6.4 Meiosis in Detail 211
6.5 Mechanisms of Chromosome Pairing in Meiosis 217
6.6 The Chromosomal Basis of Heredity 219
6.7 Aneuploidy: When Too Much or Too Little
Counts 224
6.8 Uniparental Disomy 230
6.9 Partial Aneuploidies 236
6.10 The Female Biological Clock 238
Appendix 6.1 Failed Meiotic Segregation
(Nondisjunction) as Proof of the Chromosome
Theory of Heredity 240
7 The Odd Couple: How the X and Y
Chromosomes Break the Rules 247
7.1 Passing the X and Y Chromosomes between
Generations 248
7.2 How Humans Cope with the Difference in
Number of Sex Chromosomes between Males and
Females 249
7.3 How X Inactivation Works 250
7.4 Skewed X Inactivation - When Most Cells
Inactivate the Same X 251
7.5 Genes that Escape X-Inactivation 255
8 Sex Determination: How Genes Determine
a Developmental Choice 273
8.1 Sex as a Coinplex Developmental
Characteristic 274
8.2 What Do the X and Y Chromosomes Have to Do
With Sex? 278
8.3 SRY on the Y: The Genetic Determinant of Male
Sexual Differentiation 279
8.4 The Role of Hormones in Early Development 282
8.5 Androgen Receptor on the X: Another Step in
the Sexual Differentiation Pathway 285
8.6 Genetics of Gender Identification 287
8.7 Genetics of Sexual Orientation 288
9 Complexity: How Traits Can Result from
Combinations of Factors 299
9.1 Digenic Diallelic Inheritance 300
9.2 Digenic TriaUelic Inheritance 304
9.3 Multifactorial Inheritance 305
9.4 Quantitative Traits 307
9.5 Additive Effects and Thresholds 309
9.6 Is It Genetic? 310
9.7 Genes and Environment: Inducible Traits 312
9.8 Genes and Environment: Infectious Disease 315
9.9 Phenocopies 319
9.10 Genotypic Compatibility: Whose Genome
Matters? 322
9.11 Phenotypic Heterogeneity: One Gene, Many
Traits 324
CONTENTS
IX
9.12
9.13
9.14
9.15
9.16
9.17
10.1
10.2
10.3
10.4
10.5
10.6
10.7
10.8
10.9
10.10
10.11
Genotypic and Phenotypic
Heterogeneity 325
Variable Expressivity 328
Phenotypic Modifiers 329
Biochemical Pathways Underlying
Complexity 331
Behavioral Genetics 334
Genes Expression: Another Level of
Complexity 337
10 The Multiple*Hit Hypothesis: How
Genes Play a Role in Cancer 343
The War on Cancer 344
Cancer as a Defect in Regulation of the Cell
Cycle 345
Cancer as a Genetic Disease 346
Cancer and the Environment 348
Tumor Suppressor Genes and the Two-Hit
Hypothesis 348
Cell-Type Specificity of Tumor Suppressor Gene
Defects 352
The Multi-Hit Hypothesis 353
The Activation of Proto-Oncogenes and the
Role of Oncogenes in Promoting
Cancer 355
Defects in DNA Repair 357
Personalized Medicine 358
Cancer Biomarkers 361
V
HOW GENES ARE FOÜND
1 1 The Gene Hunt: How Genetic Maps Are
Built and Used 369
11.1 What Is a Genetic Map? 370
11.2 What Is a Genetic Marker? 372
11.3 Finding Genes before There Were Maps 378
11.4 Defining the Thing to Be Mapped 380
11.5 Recombination as a Measure of Genetic
Distance 382
11.6 Physical Maps and Physical Distances 388
11.7 How Did They Build Genetic Maps? 393
11.8 After the Map: What Came Next? 396
1 J The Human Genome: How the
Sequence Enables Genome-wide
Studies 405
12.1 The Human Genome Project 406
12.2 The Human Genome Sequence 416
12.3 The Other Genome Projects 418
12.4 The Genes in the Human
Genome 420
12.5 Human Genome Variation 428
12.6 Genome-wide Technologies 432
12.7 Genome-wide Association 433
12.8 Allele Sharing and Sib Pair Analysis 439
12.9 Copy Number Variation and Gene Dosage 440
12.10 Whole Genome Sequencing 443
___________VI__________
HOW GENES PLAY A ROLE IN
TESTING AND TREATMENT
15 Genetic Testing and Screening:
How Genotyping Can Offer
Important Insights 455
13.1 What Is Medical Genetics? 457
13.2 Screening vs. Testing 459
13.3 Preimplantation Genetic Screening 461
13.4 Prenatal Diagnosis During the First
Trimester 463
13.5 Prenatal Diagnosis During the Second
Trimester 465
13.6 Amniocentesis and Chorionic Villus
Sampling 466
13.7 Analysis of Fetal Cells 469
13.8 Sex Selection 473
13.9 Newborn Screening 474
13.10 Adult Genetic Screening and Testing 475
13.11 Ethical, Legal, and Social Issues 480
14 Magic Bullets: How Gene-based
Therapies Personalize Medicine 487
141 Replacing a Lost Gene or Funtion - The RPE65
Story 488
14.2 Replacing a Lost Gene - ADA Deficiency 492
14.3 Targeting Downstream Disease Pathology 493
CONTENTS
14-4 Suppressing the Unwanted Genotype - Use of
siRNAs and miRNAs 495
14-5 Gene Supplement Therapy - More of the
Same 497
14-6 Strategies for Cancer Therapy 498
14.7 Gene-based Therapy Instead of Gene
Therapy 500
14-8 Delivering Gene Therapy 502
14.9 Do We Have to Treat the Whole Body? 503
14.10 What Are the Biggest Problems with Gene
Therapy? 505
14.11 So, Whom Do We Treat? 506
! 5 Fears, Faith, and Fantasies: How the
Past and Present Shape the Future of
Genomic Medicine 513
15.1 Fears - A Tale of Eugenics 514
15.2 Faith - A Tale of Ethical, Legal, and Social
Advances 518
15.3 Fantasies - A Tale of Our Genetic Future 522
Answers to Study Questions 527
Glossary 553
Index 575
|
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| illustrated | Illustrated |
| indexdate | 2024-12-20T16:00:54Z |
| institution | BVB |
| isbn | 9780123334459 |
| language | English |
| lccn | 2011288669 |
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| spellingShingle | Richards, Julia E. Hawley, R. Scott The human genome a user's guide Human genome Human gene mapping Human genetics Mensch (DE-588)4038639-9 gnd Genom (DE-588)4156640-3 gnd Humangenetik (DE-588)4072653-8 gnd |
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| title | The human genome a user's guide |
| title_auth | The human genome a user's guide |
| title_exact_search | The human genome a user's guide |
| title_full | The human genome a user's guide Julia E. Richards, R. Scott Hawley |
| title_fullStr | The human genome a user's guide Julia E. Richards, R. Scott Hawley |
| title_full_unstemmed | The human genome a user's guide Julia E. Richards, R. Scott Hawley |
| title_short | The human genome |
| title_sort | the human genome a user s guide |
| title_sub | a user's guide |
| topic | Human genome Human gene mapping Human genetics Mensch (DE-588)4038639-9 gnd Genom (DE-588)4156640-3 gnd Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Human genome Human gene mapping Human genetics Mensch Genom Humangenetik |
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