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[资源] 2014英文新书：女性乃是马赛克

Females Are Mosaics
by BARBARA R. MIGEON
© Oxford University Press 2014，S E C O N D E D I T I O N
328P

Contents

Acknowledgments xi
Introduction xiii
PART ONE Background 1
1. Sex Diff erences in Disease 3
1.1. Males More Vulnerable at Every Age 3
1.2. Vulnerability of Males Leads to Sex-Specifi c Disease 7
1.3. Summary and Speculations 10
2. Evolution of the Human Sex Chromosomes and
a Portrait of the Human X 11
2.1. Chromosomal Basis of Sex Determination 11
2.2. Th e Human Sex Chromosomes Evolved from
Avian Autosomes 13
2.3. Degeneration of the Y Chromosome 16
2.4. Ohno’s Law and the Conservation of the Original X 17
2.5. Residual Homology and the Pseudoautosomal Regions 18
2.6. Genetic Portrait of the Human X 20
2.7. Summary and Speculations 25
3. X Chromosome Dosage Compensation: An Overview 27
3.1. X Chromosome Dosage Compensation 28
3.2. Heterochromatin and Chromosome Silencing 30
3.3. Role in Sex Determination 32
3.4. Mechanisms of Dosage Compensation in Other Organisms 32
3.5. Mechanisms of Dosage Compensation in Mammals 36
3.6. Summary and Speculations 38
4. Th e Discovery of X Chromosome Inactivation 39
4.1. Th e Lyon Hypothesis 43
4.2. General Scheme of Mammalian Dosage Compensation 45
4.3. Summary and Speculations 47
5. Experimental Models for X Inactivation Studies 48
5.1. Spontaneous Human Mutations Th at Interfere
with Inactivation 48
5.2. X-Linked Protein Variants Distinguish Parental
Origin of X Chromosomes 52
5.3. Characterizing the Inactive X in Human Cell Cultures
and Clones 53
5.4. Mouse–Human Hybrids Separate Inactive from Active X 56
5.5. Mouse Embryonic Stem Cells for Manipulating the Early Steps in X
Inactivation 57
5.6. Transgenic Mice as a Functional Assay 59
5.7. Assays for X Inactivation Patterns in Heterozygotes 60
5.8. Summary and Speculations 61
PART TWO Th emes and Variations of X Inactivation 63
6. Th eme 1: Th e Initial Steps—Creating the Active and Inactive X 65
6.1. Characteristics of the Inactive X Chromosome 65
6.2. Time of Initiation in the Embryo 69
6.3. C is Inactivation 72
6.4. Th e Master Control Region: XIC and Xist 74
6.5. Silencing the Inactive X Chromosome 78
6.6. Single Active X versus X Inactivation 83
6.7. Choosing the Active X Chromosome 85
6.8. Summary and Speculations 91
7. Th eme 2: Subsequent Steps—Spreading and Maintaining
Inactivation 92
7.1. Spreading Inactivation by Modifying Chromatin 93
7.2. Maintaining Inactivation by DNA Methylation of CpG Islands 100
7.3. Escape from Inactivation 104
7.4. Transient X Inactivation in Germ Cells 107
7.5. Induced X Reactivation in Placental Cells 109
7.6. Role of DNA Replication in X Inactivation 110
7.7. Summary and Speculations 111
8. Variations 1: Th e X Inactivation Center 112
8.1. Variations on the Th emes of X Inactivation 112
8.2. Divergence in the Physical Map 113
8.3. Th e Eff ect of Map Changes on X Inactivation in Mouse
and Human 116
8.4. Summary and Speculations 120
9. Variations 2: Stability of Inactive X 121
9.1. Stability of Inactivation and DNA Methylation 122
9.2. Genes Th at Escape Inactivation 122
9.3. Summary and Speculations 125
10. Variations 3: Choice of Active X 126
10.1. Primary Nonrandom X Inactivation 126
10.2. Paternal X Inactivation 129
10.3. Relationship of Paternal X Inactivation to Genomic
Imprinting 131
10.4. Th e Paternal X Imprint in X Inactivation 132
10.5. Does Antisense Transcription Have a Role? 135
10.6. Evolution and Tinkering 139
10.7. Eff ect of Inactivation Timing 139
10.8. Summary and Speculations 142
PART THREE Medical Consequences of X Inactivation 143
11. Th e Single Active X 145
11.1. Coping with a Monosomy X 145
11.2. Dosage Compensation of the Active X 146
11.3. Sex Diff erences in Susceptibility to Disease 148
11.4. Viability of Turner Syndrome, Klinefelter Syndrome, and
X Chromosome Aneuploidy 149
11.5. X Deletions, Ring X Chromosomes, X Duplications, and
Functional Disomy 155
11.6. X/Autosome Translocations and Spreading of Inactivation 157
11.7. Polyploidy and the Choice of Active X 159
11.8. Summary and Speculations 162
12. Mosaicism 163
12.1. Th e X-Linked Phenotype Is Dominant at the Cellular Level 163
12.2. Females are Mosaics 164
12.3. Interaction between Mosaic Cell Populations 167
12.4. Skewing of X Inactivation Patterns 175
12.5. Eff ect of X Inactivation on Clinical Phenotype 183
12.6. “Manifesting” Heterozygotes 202
12.7. Summary and Speculations 206
13. Epimutations, Chromatin Disorders, and Sex Diff erences
in Phenotype 209
13.1. Epimutations Usually Cause Somatic Diseases 210
13.2. Epimutations in Parental Imprinting Disorders 211
13.3. Epigenetic Regulation of Autosomal Gene Expression
by Sex Chromosomes 213
13.4. Disorders of the Epigenetic Machinery 213
13.5. Sex Diff erences in Manifestations of Chromatin Disorders 216
13.6. Treatment of Chromatin Disorders 219
13.7. Summary and Speculations 219
14. Determinants of Female Phenotypes 221
14.1. Th e Dynamic Eff ect of Interacting Cell Populations on the
Health of Females 222
14.2. Th e Eff ect of X Inactivation on Normal Female Phenotype
and Cell Diversity 225
14.3. Epilogue 226
Appendix A: Descriptions of Model X-linked and
Relevant Diseases 229
Appendix B: Sex Chromosome Aneuploidy, Polyploidy, and
Parthenogenetic Conceptuses 246
Appendix C: Eff ect of X Inactivation on Phenotype and
Cell Selection in X-linked Disorders 251
Glossary 263
References 271
Index 295
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