Crumbling Genome
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portes grátis
Crumbling Genome
The Impact of Deleterious Mutations on Humans
Kondrashov, Alexey S.
John Wiley and Sons Ltd
07/2017
304
Mole
Inglês
9781118952115
15 a 20 dias
578
Descrição não disponível.
Preface ix
1 Genotypes and Phenotypes 1
1.1 DNA is a Text 1
1.2 Genomes Small and Large 6
1.3 Genes and Intergenic Regions 7
1.4 Cells, Mitosis, and Meiosis 14
1.5 From Genotype to Phenotype 17
Further Reading 21
2 Mendelian Inheritance and Population Genetics 23
2.1 Inheritance is Discrete 23
2.2 Populations are Genetically Variable 27
2.3 Loci and Genes 33
2.4 Effects of Alleles on Phenotypes 37
2.5 Mendelian Traits and Diseases 43
Further Reading 46
3 Complex Traits and Their Inheritance 49
3.1 Complex Inheritance of Phenotypes 49
3.2 Properties of a Complex Trait 52
3.3 Complex Traits in Populations 55
3.4 Effects of Heredity and Environment on Complex Traits 60
3.5 Polymorphic Loci Behind Complex Variation 64
Further Reading 68
4 Unavoidable Mutation 71
4.1 Phenomenon of Mutation 71
4.2 Kinds of Mutations 73
4.3 Spontaneous Mutation 75
4.4 Evolution of Mutation Rates 77
4.5 Artificial Mutagenesis and Antimutagenesis 79
Further Reading 81
5 Struggle for Fidelity 83
5.1 Fidelity of DNA Replication 83
5.2 Cleaning Up After the Replisome 88
5.3 Dealing with DNA Damages 91
5.4 Harms of Broken Maintenance 96
5.5 Mechanisms of Mutation 100
Further Reading 104
6 Mutation Rates 107
6.1 Measuring Mutation Rates 107
6.2 Data on Mutation Rates 109
6.3 Guilty Older Men 112
6.4 Rates of Phenotypically Drastic Mutations 114
6.5 Mild Mutations and Mutational Pressures 118
Further Reading 121
7 Natural Selection 123
7.1 Vulnerable Adaptations and Their Evolutionary Origin 123
7.2 Two Basic Characteristics of Selection 127
7.3 Measuring Natural Selection 129
7.4 Selection at a Polymorphic Locus 132
7.5 Selection on a Quantitative Trait 135
Further Reading 138
8 Functioning DNA and Junk DNA 141
8.1 Selective Neutrality and Random Drift 141
8.2 Effective Population Size 144
8.3 Junk DNA Provides the Simplest Evidence for Evolution 144
8.4 Finding Functioning Genome Segments 145
8.5 The Genomic Rate of Deleterious Mutations 147
Further Reading 148
9 It Takes All the Running You Can Do 149
9.1 Middle Class Neighborhood for Drosophila 149
9.2 Selection Against Deleterious Alleles 153
9.3 Mutation-Selection Equilibrium 155
9.4 Inbreeding Depression 158
9.5 Dangerous Slightly Deleterious Alleles 160
Further Reading 162
10 Phenomenon of Imperfection 165
10.1 Phenotypic and Genotypic Imperfection 165
10.2 Five Evolutionary Causes of Imperfection 168
10.3 Weakly Perfect Human Genotypes and Phenotypes 171
10.4 Native, Novel, and Optimal Environments 173
10.5 Factors, Exacerbating Mutation Imperfection 175
Further Reading 176
11 Our Imperfect Fitness 177
11.1 Properties of an Allele 177
11.2 Human Derived Alleles 180
11.3 Average Imperfection of a Genotype 186
11.4 Variation Among Genotypes 190
11.5 Selection in Modern Human Populations 192
Further Reading 197
12 Our Imperfect Wellness 199
12.1 Qualitative Characteristics of Wellness 199
12.2 Quantitative Traits 206
12.3 Contributions of Heredity and Environment 208
12.4 Wellness-impairing Alleles 211
12.5 Genetic Architecture of Wellness 215
Further Reading 217
13 Mutational Pressure on Our Species 219
13.1 Mutational Pressure on Diseases 219
13.2 Mutational Pressure on Quantitative Traits 225
13.3 Possible Increase of the Mutational Pressure 226
13.4 De Novo Mutations and Human Wellness 228
13.5 Optimistic and Pessimistic Scenarios 230
Further Reading 231
14 Ethical Issues 233
14.1 Lessons from History 233
14.2 Modern Practices 237
14.3 Humanist Ethics and the Main Concern 241
14.4 The Main Concern and Ethical Dilemmas 244
14.5 Role of Scientists 247
Further Reading 250
15 What to Do? 253
15.1 Conditionally Beneficial or Unconditionally Deleterious? 253
15.2 Mutationless Utopia: What Could It Be? 257
15.3 Mutationless Utopia: Is It Ever Going to Happen? 261
15.4 What Can I Do Without Germline Genotype Modification? 265
15.5 Prognosis 268
Further Reading 269
Index 271
1 Genotypes and Phenotypes 1
1.1 DNA is a Text 1
1.2 Genomes Small and Large 6
1.3 Genes and Intergenic Regions 7
1.4 Cells, Mitosis, and Meiosis 14
1.5 From Genotype to Phenotype 17
Further Reading 21
2 Mendelian Inheritance and Population Genetics 23
2.1 Inheritance is Discrete 23
2.2 Populations are Genetically Variable 27
2.3 Loci and Genes 33
2.4 Effects of Alleles on Phenotypes 37
2.5 Mendelian Traits and Diseases 43
Further Reading 46
3 Complex Traits and Their Inheritance 49
3.1 Complex Inheritance of Phenotypes 49
3.2 Properties of a Complex Trait 52
3.3 Complex Traits in Populations 55
3.4 Effects of Heredity and Environment on Complex Traits 60
3.5 Polymorphic Loci Behind Complex Variation 64
Further Reading 68
4 Unavoidable Mutation 71
4.1 Phenomenon of Mutation 71
4.2 Kinds of Mutations 73
4.3 Spontaneous Mutation 75
4.4 Evolution of Mutation Rates 77
4.5 Artificial Mutagenesis and Antimutagenesis 79
Further Reading 81
5 Struggle for Fidelity 83
5.1 Fidelity of DNA Replication 83
5.2 Cleaning Up After the Replisome 88
5.3 Dealing with DNA Damages 91
5.4 Harms of Broken Maintenance 96
5.5 Mechanisms of Mutation 100
Further Reading 104
6 Mutation Rates 107
6.1 Measuring Mutation Rates 107
6.2 Data on Mutation Rates 109
6.3 Guilty Older Men 112
6.4 Rates of Phenotypically Drastic Mutations 114
6.5 Mild Mutations and Mutational Pressures 118
Further Reading 121
7 Natural Selection 123
7.1 Vulnerable Adaptations and Their Evolutionary Origin 123
7.2 Two Basic Characteristics of Selection 127
7.3 Measuring Natural Selection 129
7.4 Selection at a Polymorphic Locus 132
7.5 Selection on a Quantitative Trait 135
Further Reading 138
8 Functioning DNA and Junk DNA 141
8.1 Selective Neutrality and Random Drift 141
8.2 Effective Population Size 144
8.3 Junk DNA Provides the Simplest Evidence for Evolution 144
8.4 Finding Functioning Genome Segments 145
8.5 The Genomic Rate of Deleterious Mutations 147
Further Reading 148
9 It Takes All the Running You Can Do 149
9.1 Middle Class Neighborhood for Drosophila 149
9.2 Selection Against Deleterious Alleles 153
9.3 Mutation-Selection Equilibrium 155
9.4 Inbreeding Depression 158
9.5 Dangerous Slightly Deleterious Alleles 160
Further Reading 162
10 Phenomenon of Imperfection 165
10.1 Phenotypic and Genotypic Imperfection 165
10.2 Five Evolutionary Causes of Imperfection 168
10.3 Weakly Perfect Human Genotypes and Phenotypes 171
10.4 Native, Novel, and Optimal Environments 173
10.5 Factors, Exacerbating Mutation Imperfection 175
Further Reading 176
11 Our Imperfect Fitness 177
11.1 Properties of an Allele 177
11.2 Human Derived Alleles 180
11.3 Average Imperfection of a Genotype 186
11.4 Variation Among Genotypes 190
11.5 Selection in Modern Human Populations 192
Further Reading 197
12 Our Imperfect Wellness 199
12.1 Qualitative Characteristics of Wellness 199
12.2 Quantitative Traits 206
12.3 Contributions of Heredity and Environment 208
12.4 Wellness-impairing Alleles 211
12.5 Genetic Architecture of Wellness 215
Further Reading 217
13 Mutational Pressure on Our Species 219
13.1 Mutational Pressure on Diseases 219
13.2 Mutational Pressure on Quantitative Traits 225
13.3 Possible Increase of the Mutational Pressure 226
13.4 De Novo Mutations and Human Wellness 228
13.5 Optimistic and Pessimistic Scenarios 230
Further Reading 231
14 Ethical Issues 233
14.1 Lessons from History 233
14.2 Modern Practices 237
14.3 Humanist Ethics and the Main Concern 241
14.4 The Main Concern and Ethical Dilemmas 244
14.5 Role of Scientists 247
Further Reading 250
15 What to Do? 253
15.1 Conditionally Beneficial or Unconditionally Deleterious? 253
15.2 Mutationless Utopia: What Could It Be? 257
15.3 Mutationless Utopia: Is It Ever Going to Happen? 261
15.4 What Can I Do Without Germline Genotype Modification? 265
15.5 Prognosis 268
Further Reading 269
Index 271
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
genome; computational biology; human genetics; the human genome; genetic mutation; spontaneous genetic mutation; genetic mutation effects on human health; evolutionary biology; genotype vs. phenotype; deleterious genetic mutations; effects of genetic mutations in the human genome; genetic mutation health risks; deleterious genetic mutation and human health; dna; nucleotide replacement; protein folding; evolutionary genetics; human evolutionary genetics; evolutionary genomics; evolutionary proteomics; systems biology; human genetic history; mapping mutations in the human genome; gene mutation and evolution; gene mutation and human evolution; genetic mutation and natural selection; genetics and natural selection; gene therapy; advances in computational biology; advances in evolutionary genetics; what is a genome
Preface ix
1 Genotypes and Phenotypes 1
1.1 DNA is a Text 1
1.2 Genomes Small and Large 6
1.3 Genes and Intergenic Regions 7
1.4 Cells, Mitosis, and Meiosis 14
1.5 From Genotype to Phenotype 17
Further Reading 21
2 Mendelian Inheritance and Population Genetics 23
2.1 Inheritance is Discrete 23
2.2 Populations are Genetically Variable 27
2.3 Loci and Genes 33
2.4 Effects of Alleles on Phenotypes 37
2.5 Mendelian Traits and Diseases 43
Further Reading 46
3 Complex Traits and Their Inheritance 49
3.1 Complex Inheritance of Phenotypes 49
3.2 Properties of a Complex Trait 52
3.3 Complex Traits in Populations 55
3.4 Effects of Heredity and Environment on Complex Traits 60
3.5 Polymorphic Loci Behind Complex Variation 64
Further Reading 68
4 Unavoidable Mutation 71
4.1 Phenomenon of Mutation 71
4.2 Kinds of Mutations 73
4.3 Spontaneous Mutation 75
4.4 Evolution of Mutation Rates 77
4.5 Artificial Mutagenesis and Antimutagenesis 79
Further Reading 81
5 Struggle for Fidelity 83
5.1 Fidelity of DNA Replication 83
5.2 Cleaning Up After the Replisome 88
5.3 Dealing with DNA Damages 91
5.4 Harms of Broken Maintenance 96
5.5 Mechanisms of Mutation 100
Further Reading 104
6 Mutation Rates 107
6.1 Measuring Mutation Rates 107
6.2 Data on Mutation Rates 109
6.3 Guilty Older Men 112
6.4 Rates of Phenotypically Drastic Mutations 114
6.5 Mild Mutations and Mutational Pressures 118
Further Reading 121
7 Natural Selection 123
7.1 Vulnerable Adaptations and Their Evolutionary Origin 123
7.2 Two Basic Characteristics of Selection 127
7.3 Measuring Natural Selection 129
7.4 Selection at a Polymorphic Locus 132
7.5 Selection on a Quantitative Trait 135
Further Reading 138
8 Functioning DNA and Junk DNA 141
8.1 Selective Neutrality and Random Drift 141
8.2 Effective Population Size 144
8.3 Junk DNA Provides the Simplest Evidence for Evolution 144
8.4 Finding Functioning Genome Segments 145
8.5 The Genomic Rate of Deleterious Mutations 147
Further Reading 148
9 It Takes All the Running You Can Do 149
9.1 Middle Class Neighborhood for Drosophila 149
9.2 Selection Against Deleterious Alleles 153
9.3 Mutation-Selection Equilibrium 155
9.4 Inbreeding Depression 158
9.5 Dangerous Slightly Deleterious Alleles 160
Further Reading 162
10 Phenomenon of Imperfection 165
10.1 Phenotypic and Genotypic Imperfection 165
10.2 Five Evolutionary Causes of Imperfection 168
10.3 Weakly Perfect Human Genotypes and Phenotypes 171
10.4 Native, Novel, and Optimal Environments 173
10.5 Factors, Exacerbating Mutation Imperfection 175
Further Reading 176
11 Our Imperfect Fitness 177
11.1 Properties of an Allele 177
11.2 Human Derived Alleles 180
11.3 Average Imperfection of a Genotype 186
11.4 Variation Among Genotypes 190
11.5 Selection in Modern Human Populations 192
Further Reading 197
12 Our Imperfect Wellness 199
12.1 Qualitative Characteristics of Wellness 199
12.2 Quantitative Traits 206
12.3 Contributions of Heredity and Environment 208
12.4 Wellness-impairing Alleles 211
12.5 Genetic Architecture of Wellness 215
Further Reading 217
13 Mutational Pressure on Our Species 219
13.1 Mutational Pressure on Diseases 219
13.2 Mutational Pressure on Quantitative Traits 225
13.3 Possible Increase of the Mutational Pressure 226
13.4 De Novo Mutations and Human Wellness 228
13.5 Optimistic and Pessimistic Scenarios 230
Further Reading 231
14 Ethical Issues 233
14.1 Lessons from History 233
14.2 Modern Practices 237
14.3 Humanist Ethics and the Main Concern 241
14.4 The Main Concern and Ethical Dilemmas 244
14.5 Role of Scientists 247
Further Reading 250
15 What to Do? 253
15.1 Conditionally Beneficial or Unconditionally Deleterious? 253
15.2 Mutationless Utopia: What Could It Be? 257
15.3 Mutationless Utopia: Is It Ever Going to Happen? 261
15.4 What Can I Do Without Germline Genotype Modification? 265
15.5 Prognosis 268
Further Reading 269
Index 271
1 Genotypes and Phenotypes 1
1.1 DNA is a Text 1
1.2 Genomes Small and Large 6
1.3 Genes and Intergenic Regions 7
1.4 Cells, Mitosis, and Meiosis 14
1.5 From Genotype to Phenotype 17
Further Reading 21
2 Mendelian Inheritance and Population Genetics 23
2.1 Inheritance is Discrete 23
2.2 Populations are Genetically Variable 27
2.3 Loci and Genes 33
2.4 Effects of Alleles on Phenotypes 37
2.5 Mendelian Traits and Diseases 43
Further Reading 46
3 Complex Traits and Their Inheritance 49
3.1 Complex Inheritance of Phenotypes 49
3.2 Properties of a Complex Trait 52
3.3 Complex Traits in Populations 55
3.4 Effects of Heredity and Environment on Complex Traits 60
3.5 Polymorphic Loci Behind Complex Variation 64
Further Reading 68
4 Unavoidable Mutation 71
4.1 Phenomenon of Mutation 71
4.2 Kinds of Mutations 73
4.3 Spontaneous Mutation 75
4.4 Evolution of Mutation Rates 77
4.5 Artificial Mutagenesis and Antimutagenesis 79
Further Reading 81
5 Struggle for Fidelity 83
5.1 Fidelity of DNA Replication 83
5.2 Cleaning Up After the Replisome 88
5.3 Dealing with DNA Damages 91
5.4 Harms of Broken Maintenance 96
5.5 Mechanisms of Mutation 100
Further Reading 104
6 Mutation Rates 107
6.1 Measuring Mutation Rates 107
6.2 Data on Mutation Rates 109
6.3 Guilty Older Men 112
6.4 Rates of Phenotypically Drastic Mutations 114
6.5 Mild Mutations and Mutational Pressures 118
Further Reading 121
7 Natural Selection 123
7.1 Vulnerable Adaptations and Their Evolutionary Origin 123
7.2 Two Basic Characteristics of Selection 127
7.3 Measuring Natural Selection 129
7.4 Selection at a Polymorphic Locus 132
7.5 Selection on a Quantitative Trait 135
Further Reading 138
8 Functioning DNA and Junk DNA 141
8.1 Selective Neutrality and Random Drift 141
8.2 Effective Population Size 144
8.3 Junk DNA Provides the Simplest Evidence for Evolution 144
8.4 Finding Functioning Genome Segments 145
8.5 The Genomic Rate of Deleterious Mutations 147
Further Reading 148
9 It Takes All the Running You Can Do 149
9.1 Middle Class Neighborhood for Drosophila 149
9.2 Selection Against Deleterious Alleles 153
9.3 Mutation-Selection Equilibrium 155
9.4 Inbreeding Depression 158
9.5 Dangerous Slightly Deleterious Alleles 160
Further Reading 162
10 Phenomenon of Imperfection 165
10.1 Phenotypic and Genotypic Imperfection 165
10.2 Five Evolutionary Causes of Imperfection 168
10.3 Weakly Perfect Human Genotypes and Phenotypes 171
10.4 Native, Novel, and Optimal Environments 173
10.5 Factors, Exacerbating Mutation Imperfection 175
Further Reading 176
11 Our Imperfect Fitness 177
11.1 Properties of an Allele 177
11.2 Human Derived Alleles 180
11.3 Average Imperfection of a Genotype 186
11.4 Variation Among Genotypes 190
11.5 Selection in Modern Human Populations 192
Further Reading 197
12 Our Imperfect Wellness 199
12.1 Qualitative Characteristics of Wellness 199
12.2 Quantitative Traits 206
12.3 Contributions of Heredity and Environment 208
12.4 Wellness-impairing Alleles 211
12.5 Genetic Architecture of Wellness 215
Further Reading 217
13 Mutational Pressure on Our Species 219
13.1 Mutational Pressure on Diseases 219
13.2 Mutational Pressure on Quantitative Traits 225
13.3 Possible Increase of the Mutational Pressure 226
13.4 De Novo Mutations and Human Wellness 228
13.5 Optimistic and Pessimistic Scenarios 230
Further Reading 231
14 Ethical Issues 233
14.1 Lessons from History 233
14.2 Modern Practices 237
14.3 Humanist Ethics and the Main Concern 241
14.4 The Main Concern and Ethical Dilemmas 244
14.5 Role of Scientists 247
Further Reading 250
15 What to Do? 253
15.1 Conditionally Beneficial or Unconditionally Deleterious? 253
15.2 Mutationless Utopia: What Could It Be? 257
15.3 Mutationless Utopia: Is It Ever Going to Happen? 261
15.4 What Can I Do Without Germline Genotype Modification? 265
15.5 Prognosis 268
Further Reading 269
Index 271
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
genome; computational biology; human genetics; the human genome; genetic mutation; spontaneous genetic mutation; genetic mutation effects on human health; evolutionary biology; genotype vs. phenotype; deleterious genetic mutations; effects of genetic mutations in the human genome; genetic mutation health risks; deleterious genetic mutation and human health; dna; nucleotide replacement; protein folding; evolutionary genetics; human evolutionary genetics; evolutionary genomics; evolutionary proteomics; systems biology; human genetic history; mapping mutations in the human genome; gene mutation and evolution; gene mutation and human evolution; genetic mutation and natural selection; genetics and natural selection; gene therapy; advances in computational biology; advances in evolutionary genetics; what is a genome
