| List of Contributors |
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xv | |
| Preface and Introduction |
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xix | |
| Acknowledgments |
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xxi | |
| About the Editor |
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xxiii | |
| Part I Somatic Genome Variation in Animals and Humans |
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1 | (74) |
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1 Polyploidy in Animal Development and Disease |
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3 | (42) |
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3 | (1) |
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1.2 Mechanisms Inducing Somatic Polyploidy |
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4 | (4) |
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4 | (1) |
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1.2.2 Acytokinetic Mitosis |
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4 | (1) |
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5 | (1) |
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5 | (2) |
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7 | (1) |
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7 | (1) |
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1.3 The Core Cell Cycle Machinery |
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8 | (1) |
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1.4 Genomic Organization of Polyploid Cells |
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9 | (1) |
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1.5 Endoreplication: An Effective Tool for Post-Mitotic Growth and Tissue Regeneration |
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10 | (1) |
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1.6 Initiation of Endoreplication in Drosophila |
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11 | (4) |
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1.6.1 Endocycle Entry in Ovarian Follicle Cells |
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11 | (2) |
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1.6.2 Signaling Pathways Regulating Endocycle Entry in Follicle Cells |
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13 | (1) |
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1.6.3 Endocycle Entry in Other Tissues |
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14 | (1) |
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1.7 Mechanisms of Endocycle Oscillations in Drosophila |
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15 | (2) |
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1.7.1 An Autonomous Oscillator Drives Endocycling in the Salivary Gland |
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15 | (2) |
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1.7.2 Alternative Modes of Endoreplication |
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17 | (1) |
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1.8 Gene Amplification in Drosophila Follicle Cells |
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17 | (2) |
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1.8.1 Molecular Mechanism of Gene Amplification |
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17 | (2) |
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1.8.2 The Endocycle-to-Amplification Switch |
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19 | (1) |
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1.9 Endocycle Entry in the Trophoblast Lineage |
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19 | (3) |
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1.10 Mechanisms of Endocycle Oscillations in Trophoblast Giant Cells |
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22 | (1) |
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23 | (2) |
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1.11.1 Upstream Control of Cardiomyocyte Polyploidization |
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23 | (1) |
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1.11.2 Mechanisms of Cardiomyocyte Polyploidization |
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24 | (1) |
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1.11.3 Polyploidization as a Response to Tissue Damage |
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25 | (1) |
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25 | (3) |
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1.12.1 Mechanisms of Hepatocyte Polyploidization |
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25 | (1) |
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1.12.2 The Ploidy Conveyor Model |
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26 | (1) |
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1.12.3 Liver Regeneration |
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26 | (2) |
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28 | (2) |
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1.13.1 Mechanisms of MKC Polyploidization |
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28 | (2) |
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30 | (1) |
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31 | (1) |
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31 | (14) |
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2 Large-Scale Programmed Genome Rearrangements in Vertebrates |
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45 | (10) |
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45 | (1) |
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46 | (2) |
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2.2.1 Content of Eliminated DNA |
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47 | (1) |
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2.2.2 Results and Mechanisms of Deletion |
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47 | (1) |
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48 | (1) |
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2.3.1 Content of Eliminated DNA |
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48 | (1) |
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2.3.2 Results and Mechanisms of Deletion |
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48 | (1) |
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48 | (1) |
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2.4.1 Mechanisms of Deletion |
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49 | (1) |
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2.4.2 Content of Eliminated DNA |
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49 | (1) |
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2.5 Emerging Themes and Directions |
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49 | (2) |
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2.5.1 The Biological Function of PGR |
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49 | (1) |
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2.5.2 Mechanisms of Deletion |
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50 | (1) |
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51 | (1) |
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51 | (4) |
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3 Chromosome Instability in Stem Cells |
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55 | (20) |
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55 | (1) |
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3.2 Pluripotent Stem Cells |
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56 | (2) |
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3.2.1 Primate Embryonic Stem Cells |
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56 | (1) |
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3.2.2 Mouse Embryonic Stem Cells |
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57 | (1) |
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3.2.3 Parthenogenetic Embryonic Stem Cells |
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57 | (1) |
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3.2.4 Induced Pluripotent Stem Cells |
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58 | (1) |
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58 | (1) |
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3.3.1 Mesenchymal Stem Cells |
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58 | (1) |
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59 | (1) |
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3.4 Mechanisms of Chromosomal Instability |
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59 | (4) |
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3.4.1 Dysfunction in the Spindle Assembly Checkpoints |
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60 | (1) |
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3.4.2 Defects of Microtubule Attachment to the Kinetochore |
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60 | (1) |
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3.4.3 Supernumerary Centrosomes |
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61 | (1) |
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3.4.4 Sister Chromatids Cohesion |
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62 | (1) |
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3.5 Mechanisms of Chromosomal Instability in Stem Cells |
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63 | (1) |
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63 | (12) |
| Part II Somatic Genome Variation in Plants |
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75 | (90) |
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4 Mechanisms of Induced Inheritable Genome Variation in Flax |
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77 | (14) |
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77 | (2) |
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4.2 Restructuring the Flax Genome |
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79 | (1) |
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4.3 Specific Genomic Changes |
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80 | (3) |
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4.4 What Happens When Plastic Plants Respond to Environmental Stresses? |
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83 | (1) |
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4.5 When Do the Genomic Changes Occur and Are they Adaptive? |
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83 | (1) |
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4.6 Is this Genomic Response of Flax Unique? |
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84 | (3) |
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87 | (1) |
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87 | (1) |
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87 | (4) |
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5 Environmentally Induced Genome Instability and its Inheritance |
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91 | (12) |
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91 | (1) |
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5.2 Stress and its Effects on Genomes |
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92 | (4) |
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92 | (1) |
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92 | (1) |
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93 | (1) |
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93 | (1) |
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5.2.3.2 Histone Modifications |
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95 | (1) |
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5.2.4 The Link between Genetic and Epigenetic Changes |
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95 | (1) |
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5.3 Transgenerational Inheritance |
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96 | (1) |
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97 | (1) |
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97 | (1) |
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97 | (6) |
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6 The Mitochondria! Genome, Genomic Shifting, and Genomic Conflict |
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103 | (16) |
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103 | (2) |
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6.2 Heteroplasmy and Sublimons |
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105 | (3) |
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6.3 Cytoplasmic Male Sterility (CMS) in Plants |
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108 | (1) |
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6.4 Mitochondrial Sublimons and CMS |
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109 | (2) |
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6.5 Restorer Gene Evolution: Somatic Genetic Changes Drive Nuclear Gene Diversity? |
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111 | (1) |
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112 | (1) |
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113 | (6) |
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7 Plastid Genome Stability and Repair |
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119 | (46) |
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120 | (1) |
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7.2 Characteristics of the Plastid Genome |
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121 | (3) |
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7.2.1 General Composition of the Plastid Genome |
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121 | (2) |
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7.2.2 The Structure of the Plastid Genome |
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123 | (1) |
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7.3 Replication of Plastid DNA |
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124 | (6) |
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7.3.1 Plastid DNA Content during Development |
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124 | (1) |
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7.3.2 Plastid DNA Replication Machinery |
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125 | (1) |
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7.3.3 Replication Mechanisms |
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126 | (3) |
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7.3.4 Origins of Replication |
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129 | (1) |
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7.3.5 Nucleus and Plastid Coordination during DNA Replication |
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130 | (1) |
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7.4 Transcription in the Plastid |
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130 | (1) |
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7.5 The Influence of Replication and Transcription on Plastid Genome Stability |
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131 | (2) |
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7.6 Plastid Genome Stability and DNA Repair |
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133 | (12) |
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7.6.1 Oxidative Stress, Photo-Adaptation, and ROS Detoxification |
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133 | (5) |
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7.6.2 UV-Induced DNA Damage |
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138 | (3) |
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7.6.3 Recombination and DNA Double-Strand Break Repair |
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141 | (4) |
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7.7 Outcomes of DNA Rearrangements |
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145 | (2) |
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147 | (1) |
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148 | (17) |
| Part III Somatic Genome Variation in Microorganisms |
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165 | (86) |
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8 RNA-Mediated Somatic Genome Rearrangement in Ciliates |
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167 | (32) |
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168 | (1) |
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8.2 Ciliates: Ubiquitous Eukaryotic Microorganisms with a Long Scientific History |
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168 | (2) |
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8.3 Two's Company: Nuclear Dimorphism in Ciliates |
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170 | (1) |
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8.4 Paramecium: Non-Mendelian Inheritance Comes to Light |
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171 | (2) |
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8.5 Tetrahymena and the Origin of the scanRNA Model |
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173 | (2) |
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8.6 Small RNAs in Stylonychia and Oxytricha |
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175 | (1) |
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8.7 Long Noncoding RNA Templates in Genome Rearrangement |
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176 | (1) |
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8.8 Long Noncoding RNA: An Interface for Short Noncoding RNA |
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177 | (2) |
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8.9 Short RNA-Mediated Heterochromatin Formation and DNA Elimination |
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179 | (3) |
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8.10 Transposable Elements and the Origins of Genome Rearrangements |
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182 | (3) |
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8.11 Transposons, Phase Variation, and Programmed Genome Engineering in Bacteria |
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185 | (1) |
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8.12 Transposases, Noncoding RNA, and Chromatin Modifications in VDJ Recombination of Vertebrates |
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186 | (1) |
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8.13 Concluding Remarks: Ubiquitous Genome Variation, Transposons, and Noncoding RNA |
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187 | (1) |
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187 | (1) |
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187 | (12) |
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9 Mitotic Genome Variations in Yeast and Other Fungi |
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199 | (52) |
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199 | (1) |
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9.2 The Replication Process as a Possible Source of Genome Instability |
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200 | (19) |
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9.2.1 DNA Polymerases as Guardians of Genome Maintenance |
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201 | (4) |
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9.2.2 dNTP Cellular Level and their Pool Bias Contribute to Genome Stability |
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205 | (13) |
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9.2.3 Mismatch Repair (MMR) and Ribonucleotide Excision Repair (RER) Are Used to Clean-up after Replication |
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218 | (1) |
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9.3 Post-Replicative Repair (PRR) or Homologous Recombination (HR) Are Responsible for Error-Free and Error-Prone Repair of Blocking Lesions and Replication Stall-Borne Problems |
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219 | (10) |
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9.3.1 Sumoylated PCNA-, Srs2-, and Replicative Polymerase-dependent DNA Synthesis on Damaged Template |
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221 | (2) |
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9.3.2 Ubiquitinated PCNA- and Specialized Pol-Dependent Translesion Synthesis |
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223 | (2) |
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9.3.3 The Polyubiquitinated PCNA- and RadS-Dependent Damage Avoidance Pathway |
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225 | (1) |
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9.3.4 The Alternative PCNA-, RPA-, and 5'-Junction-Dependent Pathway Involved in Gap Filling and Telomere Maintenance |
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226 | (1) |
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9.3.5 Crosstalk between RFC Complexes Adapts Cellular Response to Different Stresses Arising from Genome Perturbations |
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226 | (1) |
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9.3.6 Break-Induced Replication (BIR) Is a Vastly Inaccurate Repair Pathway |
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227 | (2) |
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9.4 Ploidy Maintenance and Chromosome Integrity Mechanisms |
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229 | (5) |
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9.4.1 Processes that Affect Aneuploidy in Yeasts |
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230 | (1) |
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9.4.2 Ploidy Changes in Yeasts |
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231 | (1) |
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9.4.3 Possible Mechanism of Ploidy Change in Yeast |
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232 | (2) |
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234 | (1) |
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235 | (16) |
| Part IV General Genome Biology |
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251 | (154) |
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10 Genome Variation in Archaeans, Bacteria, and Asexually Reproducing Eukaryotes |
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253 | (14) |
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254 | (1) |
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10.2 Chromosome Number in Prokaryote Species |
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254 | (1) |
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10.3 Genome Size Variation in Archaeans and Bacteria |
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255 | (1) |
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10.4 Archaeal and Bacterial Genome Size Distribution |
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256 | (1) |
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10.5 Genomic GC Content in Archaeans, Bacteria, Fungi, Protists, Plants, and Animals |
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257 | (2) |
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10.6 Correlation between GC Content and Genome or Chromosome Size |
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259 | (1) |
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10.7 Genome Size and GC-Content Variation in Primarily Asexually Reproducing Fungi |
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260 | (3) |
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10.8 Variation of Gene Direction |
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263 | (1) |
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263 | (1) |
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264 | (1) |
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264 | (3) |
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11 RNA Polyadenylation Site Regions: Highly Similar in Base Composition Pattern but Diverse in Sequence-A Combination Ensuring Similar Function but Avoiding Repetitive-Regions-Related Genomic Instability |
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267 | (24) |
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11.1 General Introduction to Gene Number, Direction, and RNA Polyadenylation |
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268 | (1) |
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11.2 Base Selection at the Poly(A) Tail Starting Position |
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269 | (2) |
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11.3 Most Frequent Upstream Motifs in Microorganisms, Plants, and Animals |
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271 | (2) |
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11.4 Motif Frequencies in the Whole Genome |
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273 | (1) |
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11.5 The Top 20 Hexamer Motifs in the Poly(A) Site Region in Humans |
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273 | (1) |
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11.6 Polyadenylation Signal Motif Distribution |
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273 | (2) |
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11.7 Alternative Polyadenylation |
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275 | (1) |
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11.8 Base Composition of 3'UTR in Plants and Animals |
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276 | (1) |
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11.9 Base Composition Comparison between 3'UTR and Whole Genome |
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276 | (1) |
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11.10 Base Composition of 3'COR in Plants and Animals |
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277 | (1) |
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11.11 Base Composition Pattern of the Poly(A) Site Region in Protists |
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278 | (2) |
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11.12 Base Composition Pattern of the Poly(A) Site Region in Plants |
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280 | (1) |
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11.13 Base Composition Pattern of the Poly(A) Site Region in Animals |
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280 | (1) |
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11.14 Comparison of Poly(A) Site Region Base Composition Patterns in Plants and Animals |
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280 | (4) |
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11.15 Common U-A-U-A-U Base Abundance Pattern in the Poly(A) Site Region in Fungi, Plants, and Animals |
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284 | (1) |
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11.16 Difference between the Most Frequent Motifs and Seqlogo-Showed Most Frequent Bases |
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284 | (2) |
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11.17 RNA Structure of the Poly(A) Site Region |
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286 | (1) |
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11.18 Low Conservation in the Overall Nucleotide Sequence of the Poly(A) Site Region |
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286 | (1) |
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11.19 Poly(A) Site Region Stability and Somatic Genome Variation |
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286 | (1) |
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287 | (1) |
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288 | (1) |
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288 | (3) |
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12 Insulin Signaling Pathways in Humans and Plants |
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291 | (8) |
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291 | (2) |
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12.2 Ranking of the Insulin Signaling Pathway and its Key Proteins |
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293 | (1) |
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12.3 Diseases Caused by Somatic Mutations of the PI3K, PTEN, and AKT Proteins in the Insulin Signaling Pathway |
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293 | (2) |
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12.4 Plant Insulin and Medical Use |
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295 | (1) |
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12.5 Role of the Insulin Signaling Pathway in Regulating Plant Growth |
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295 | (1) |
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295 | (1) |
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296 | (3) |
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13 Developmental Variation in the Nuclear Genome Primary Sequence |
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299 | (10) |
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299 | (1) |
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13.2 Genetic Mutation, DNA Damage and Protection, and Gene Conversion in Somatic Cells |
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300 | (2) |
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13.3 Programmed Large-Scale Variation in Primary DNA Sequences in Somatic Nuclear Genome |
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302 | (1) |
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13.4 Generation of Antibody Genes in Animals through Somatic Genome Variation |
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303 | (1) |
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13.5 Developmental Variation in Primary DNA Sequences in the Somatic Cells of Plants |
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303 | (1) |
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13.6 Heritability and Stability of Developmentally Induced Variation in the Somatic Nuclear Genome in Plants |
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303 | (1) |
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304 | (1) |
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305 | (4) |
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14 Ploidy Variation of the Nuclear, Chloroplast, and Mitochondria! Genomes in Somatic Cells |
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309 | (28) |
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310 | (1) |
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14.2 Nuclear Genome in Somatic Cells |
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311 | (6) |
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14.2.1 Ploidy Variation of the Individual or Species in Plants and Animals |
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311 | (1) |
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14.2.2 Effects of Species Ploidy Variation on the Growth of Animals and Plants |
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312 | (1) |
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14.2.3 Ploidy of Bacteria |
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313 | (1) |
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14.2.4 Endopolyploidy in Animal and Plant Somatic Cells |
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313 | (2) |
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14.2.5 Somatic Cell Haploidization |
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315 | (1) |
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14.2.6 Aneuploid Cells in Plant Somatic Tissues |
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315 | (1) |
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14.2.7 Aneuploid Cells in Cancerous Masses |
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316 | (1) |
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14.2.8 Nuclear B Chromosomes in Somatic Cells |
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316 | (1) |
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14.3 Plastid Genome Variation in Somatic Cells |
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317 | (3) |
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317 | (1) |
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14.3.2 Plastid Genome and its Size in Somatic Cells |
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317 | (1) |
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14.3.3 Recombination among Repeated Sequences in the Plastid Genome |
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318 | (1) |
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14.3.4 Integrity of the Organelle Genome in Green Leaves under Light |
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318 | (1) |
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14.3.5 Plastid Genome Ploidy or Copy Number Variation in Somatic Cells |
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319 | (1) |
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14.4 Mitochondrial Genome in Somatic Cells |
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320 | (4) |
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14.4.1 Mitochondrial Genome and its Size |
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320 | (1) |
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14.4.2 Recombination among Repeated Sequences and Subgenomic Molecules in Mitochondria |
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321 | (1) |
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14.4.3 Mitochondrial Subgenome Copy Number Variation in Somatic Cells |
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322 | (1) |
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14.4.4 Nuclear and Tissue-Specific Regulation of Mitochondrial Gene Expression |
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322 | (1) |
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14.4.5 Stoichiometric Variation and Effects on Mitochondrial Subgenomic Molecules |
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323 | (1) |
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14.5 Organelle Genomes in Somatic Hybrids |
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324 | (1) |
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14.6 Effects of Nuclear Genome Ploidy on Organelle Genomes |
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325 | (1) |
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326 | (1) |
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326 | (1) |
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326 | (11) |
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15 Molecular Mechanisms of Somatic Genome Variation |
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337 | (14) |
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338 | (1) |
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15.2 Mutation of Genes Involved in the Cell Cycle, Cell Division, or Centromere Function |
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338 | (1) |
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338 | (1) |
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15.4 Variation in Induction and Activity of Radical-Scavenging Enzymes |
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339 | (1) |
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15.5 DNA Cytosine Deaminases |
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340 | (1) |
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15.6 Variation in Protective Roles of Pigments against Oxidative Damage |
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340 | (1) |
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15.7 RNA-Templated DNA Repair |
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341 | (1) |
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15.8 Errors in DNA Repair |
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341 | (1) |
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15.9 RNA-Mediated Somatic Genome Rearrangement |
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342 | (1) |
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15.10 Repetitive DNA Instability |
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342 | (1) |
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343 | (1) |
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343 | (1) |
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15.13 Somatic Crossover and Gene Conversion |
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343 | (1) |
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15.14 Molecular Heterosis |
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344 | (1) |
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15.15 Genome Damage Induced by Endoplasmic Reticulum Stress |
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344 | (1) |
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15.16 Telomere Degeneration |
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344 | (1) |
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344 | (1) |
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345 | (6) |
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16 Hypotheses for Interpreting Somatic Genome Variation |
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351 | (12) |
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352 | (1) |
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16.2 Cell-Specific Accumulation of Somatic Genome Variation in Somatic Cells |
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352 | (1) |
|
16.3 Developmental Age and Genomic Network of Reproductive Cells |
|
|
353 | (1) |
|
16.4 Genome Generation Cycle of Species |
|
|
353 | (1) |
|
16.5 Somatic Genome Variation and Tissue-Specific Requirements during Growth or Development |
|
|
354 | (1) |
|
16.6 Costs and Benefits of Somatic Genome Variation |
|
|
354 | (1) |
|
16.7 Hypothesis on the Existence of a Primitive Stage in both Animals and Plants |
|
|
355 | (2) |
|
16.8 Sources of Genetic Variation from in Vitro Culture Propagation |
|
|
357 | (1) |
|
16.9 Hypothesis that Heterosis Is Created by Somatic Genome Variation |
|
|
357 | (1) |
|
16.10 Genome Stability through Structural Similarity and Sequence Dissimilarity |
|
|
358 | (1) |
|
16.11 Hypothesis Interpreting the Maternal Transmission of Organelles |
|
|
358 | (1) |
|
16.12 Ability of Humans to Deal with Somatic Genome Variation and Diseases |
|
|
359 | (1) |
|
|
|
360 | (1) |
|
|
|
360 | (3) |
|
17 Impacts of Somatic Genome Variation on Genetic Theories and Breeding Concepts, and the Distinction between Mendelian Genetic Variation, Somagenetic Variation, and Epigenetic Variation |
|
|
363 | (14) |
|
|
|
|
|
364 | (1) |
|
17.2 The Term 'Somatic Genome' |
|
|
365 | (1) |
|
17.3 Mendelian Genetic Variation, Epigenetic Variation, and Somagenetic Variation |
|
|
365 | (2) |
|
|
|
367 | (1) |
|
17.5 Breeding Criteria, Genome Cycle, Pure Lines, and Variety Stability |
|
|
368 | (2) |
|
17.6 The Weismann Barrier Hypothesis and the Need for Revision |
|
|
370 | (1) |
|
17.7 Implications for Species Evolution |
|
|
370 | (1) |
|
|
|
371 | (1) |
|
|
|
372 | (5) |
|
18 Somatic Genome Variation: What it is and What it Means for Agriculture and Human Health |
|
|
377 | (28) |
|
|
|
|
|
378 | (1) |
|
18.2 Natural Attributes of Somatic Genome Variation |
|
|
378 | (2) |
|
18.3 Implications of Somatic Genome Variation for Human and Animal Health |
|
|
380 | (5) |
|
18.3.1 Cellular-Level Variation |
|
|
380 | (1) |
|
18.3.2 Ploidy and Chromosome Number Variation of the Whole Organism |
|
|
380 | (1) |
|
18.3.3 Endoploidy Variation |
|
|
381 | (1) |
|
18.3.4 DNA Cytosine Deaminases, Somatic Mutation, Immunoglobulin Diversity, and Tumors |
|
|
381 | (3) |
|
18.3.5 Mitochondrial Genome Sequence or DNA Amount Variation |
|
|
384 | (1) |
|
18.3.6 Nuclear or Ooplasmic Transfer-Based Therapy |
|
|
385 | (1) |
|
18.3.7 Differential Treatments of Beneficial and Harmful SGVs |
|
|
385 | (1) |
|
18.4 Implications of Somatic Genome Variation for Agriculture |
|
|
385 | (6) |
|
18.4.1 Cellular-Level Variation |
|
|
385 | (1) |
|
18.4.2 Ploidy and Chromosome Number Variation of the Whole Organism |
|
|
386 | (1) |
|
18.4.3 Endoploidy Variation |
|
|
387 | (1) |
|
18.4.4 Intra- and Interchromosomal Variation |
|
|
387 | (1) |
|
18.4.5 Dedifferentiation- and Redifferentiation-Induced Variation |
|
|
388 | (1) |
|
18.4.6 DNA Damage, Epigenetics, Gene Mutation, and Bud Mutation |
|
|
389 | (1) |
|
18.4.7 Plastid Genome Sequence or DNA Amount Variation |
|
|
389 | (1) |
|
18.4.8 Mitochondrial Genome Sequence or DNA Amount Variation |
|
|
390 | (1) |
|
18.4.9 DNA Transfer, Organelle Transmission, and Organelle Genome Segregation |
|
|
390 | (1) |
|
18.4.10 Intercompartmental Interaction and DNA Exchange |
|
|
391 | (1) |
|
|
|
391 | (1) |
|
|
|
392 | (1) |
|
|
|
392 | (13) |
| Index |
|
405 | |