Females are mosaics: X inactivation and sex differences in disease
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford [u.a.]
Oxford Univ. Press
2007
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Includes bibliographical references |
| Beschreibung: | XI, 271 S. Ill., graph. Darst. |
| ISBN: | 9780195188127 0195188128 |
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| 100 | 1 | |a Migeon, Barbara R. |e Verfasser |4 aut | |
| 245 | 1 | 0 | |a Females are mosaics |b X inactivation and sex differences in disease |c Barbara R. Migeon |
| 264 | 1 | |a Oxford [u.a.] |b Oxford Univ. Press |c 2007 | |
| 300 | |a XI, 271 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
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| 500 | |a Includes bibliographical references | ||
| 650 | 4 | |a X chromosome | |
| 650 | 4 | |a Mosaicism | |
| 650 | 4 | |a Sex determination, Genetic | |
| 650 | 4 | |a Sex-linkage (Genetics) | |
| 650 | 4 | |a X Chromosome Inactivation |x physiology | |
| 650 | 4 | |a Genetic Diseases, X-Linked | |
| 650 | 4 | |a Sex Factors | |
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Datensatz im Suchindex
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| adam_text | Contents
Introduction 3
Part I Background
Chapter 1 Sex Differences in Disease 11
1.1. Males More Vulnerable at Every Age 11
1.2. Vulnerability of Males Leads to Sex Specific Disease 15
1.3. Summary and Speculations 18
Chapter 2 Evolution of the Human Sex Chromosomes
and a Portrait of the Human X 20
2.1. Chromosomal Basis of Sex Determination 20
2.2. The Human Sex Chromosomes Evolved from
Reptilian Autosomes 22
2.3. Degeneration of the Y Chromosome 26
2.4. Ohno s Law and the Conservation of the Original X 26
2.5. Residual Homology and the Pseudoautosomal Regions 2 7
2.6. Genetic Portrait of the Human X 29
2.7. Summary and Speculations 33
Chapter 3 X Chromosome Dosage Compensation: An Overview 35
3.1. X Chromosome Dosage Compensation 35
3.2. Heterochromatin and Chromosome Silencing 3 8
3.3. Role in Sex Determination 40
3.4. Mechanisms of Dosage Compensation in Other Organisms 40
3.5. Mechanisms of Dosage Compensation in Mammals 4 3
3.6. Summary and Speculations 45
Chapter 4 The Discovery of X Chromosome Inactivation 47
4.1. The Lyon Hypothesis 51
4.2. General Scheme of Mammalian Dosage Compensation 54
4.3. Summary and Speculations 55
Chapter 5 Experimental Models for X Inactivation Studies 5 7
5.1. Spontaneous Human Mutations that Interfere
with Inactivation 5 7
5.2. X Iinked Protein Variants Distinguish Parental Origin
of X Chromosomes 61
5.3. Characterizing the Inactive X in Human Cell
Cultures and Clones 62
5.4. Mouse Human Hybrids Separate Inactive from Active X 64
5.5. Mouse Embryonic Stem Cells for Manipulating the
Early Steps in X Inactivation 66
5.6. Transgenic Mice as a Functional Assay 68
5.7. Assays for X Inactivation Patterns in Heterozygotes 6 9
5.8. Summary and Speculations 70
Part II. Themes and Variations of X Inactivation
Chapter 6 Theme 1: The Initial Steps—Creating the Active
and Inactive X 73
6.1. Characteristics of the Inactive X Chromosome 74
6.2. Time of Initiation in the Embryo 77
6.3. Cis Inactivation 80
6.4. The Master Control Region: XIC and Xist 81
6.5. Silencing the Inactive X Chromosome 85
6.6. Choosing the Active X Chromosome 90
6.7. Summary and Speculations 96
Chapter 7 Theme 2: Subsequent Steps—Spreading
and Maintaining Inactivation 9 8
7.1. Spreading Inactivation by Modifying Chromatin 99
7.2. Maintaining Inactivation by DNA Methylation of CpG Islands 106
7.3. Escape from Inactivation 109
7.4. Transient X Inactivation in Germ Cells 113
7.5. Induced X Reactivation in Placental Cells 115
7.6. Role of DNA Replication in X Inactivation 116
7. 7. Summary and Speculations 117
Chapter 8 Variations 1: Stability of the Inactive X 119
8.1. Variations on the Themes of X Inactivation 120
8.2. Divergence in the Physical Map 120
8.3. Stability of X Inactivation 122
8.4. Summary and Speculations 126
Chapter 9 Variations 2: Choice of ActiveX 127
9.1. Primary NonrandomX Inactivation 127
9.2. Paternal X Inactivation 131
x Contents
9.3. Relationship of Paternal X Inactivation to
Genomic Imprinting 133
9.4. Does Antisense Transcription Have a Role? 136
9.5. Evolution and Tinkering 140
9.6. Effect of Inactivation Timing 141
9.7. Summary and Speculations 143
Part III. Medical Consequences of X Inactivation
Chapter 10 The Single Active X 147
10.1. Coping with a Monosomy X 147
10.2. Sex Differences in Susceptibility to Disease 149
10.3. Viability of Turner Syndrome, Klinefelter Syndrome,
and X Chromosome Aneuploidy 150
10.4. X Deletions, Ring X Chromosomes, X Duplications,
and Functional Disomy 156
10.5. X/Autosome Translocations and Spreading of Inactivation 158
10.6. Polyploidy and the Choice of ActiveX 161
10.7. Summary and Speculations 163
Chapter 11 Mosaicism 165
11.1. The X Linked Phenotype Is Dominant at the Cellular Level 165
11.2. Females Are Mosaics 166
11.3. Interaction between Mosaic Cell Populations 168
11.4. Skewing of X Inactivation Patterns 176
11.5. Effect ofX Inactivation on Clinical Phenotype 184
11.6. Manifesting Heterozygotes 199
11.7. Summary and Speculations 203
Chapter 12 Determinants of Female Phenotypes 206
12.1. The Dynamic Effect of Interacting Cell Populations
on the Health of Females 207
12.2. The Effect of X Inactivation on Normal Female
Phenotype and Cell Diversity 209
12.3. Epilogue 211
Appendix A Descriptions of Model X linked and
Other Relevant Diseases 213
Appendix B Sex Chromosome Aneuploidy,
Polyploidy, and Parthenogenetic Conceptuses 227
Glossary 233
References 241
Index 259
Contents xi
|
| adam_txt |
Contents
Introduction 3
Part I Background
Chapter 1 Sex Differences in Disease 11
1.1. Males More Vulnerable at Every Age 11
1.2. Vulnerability of Males Leads to Sex Specific Disease 15
1.3. Summary and Speculations 18
Chapter 2 Evolution of the Human Sex Chromosomes
and a Portrait of the Human X 20
2.1. Chromosomal Basis of Sex Determination 20
2.2. The Human Sex Chromosomes Evolved from
Reptilian Autosomes 22
2.3. Degeneration of the Y Chromosome 26
2.4. Ohno's Law and the Conservation of the Original X 26
2.5. Residual Homology and the Pseudoautosomal Regions 2 7
2.6. Genetic Portrait of the Human X 29
2.7. Summary and Speculations 33
Chapter 3 X Chromosome Dosage Compensation: An Overview 35
3.1. X Chromosome Dosage Compensation 35
3.2. Heterochromatin and Chromosome Silencing 3 8
3.3. Role in Sex Determination 40
3.4. Mechanisms of Dosage Compensation in Other Organisms 40
3.5. Mechanisms of Dosage Compensation in Mammals 4 3
3.6. Summary and Speculations 45
Chapter 4 The Discovery of X Chromosome Inactivation 47
4.1. The Lyon Hypothesis 51
4.2. General Scheme of Mammalian Dosage Compensation 54
4.3. Summary and Speculations 55
Chapter 5 Experimental Models for X Inactivation Studies 5 7
5.1. Spontaneous Human Mutations that Interfere
with Inactivation 5 7
5.2. X Iinked Protein Variants Distinguish Parental Origin
of X Chromosomes 61
5.3. Characterizing the Inactive X in Human Cell
Cultures and Clones 62
5.4. Mouse Human Hybrids Separate Inactive from Active X 64
5.5. Mouse Embryonic Stem Cells for Manipulating the
Early Steps in X Inactivation 66
5.6. Transgenic Mice as a Functional Assay 68
5.7. Assays for X Inactivation Patterns in Heterozygotes 6 9
5.8. Summary and Speculations 70
Part II. Themes and Variations of X Inactivation
Chapter 6 Theme 1: The Initial Steps—Creating the Active
and Inactive X 73
6.1. Characteristics of the Inactive X Chromosome 74
6.2. Time of Initiation in the Embryo 77
6.3. Cis Inactivation 80
6.4. The Master Control Region: XIC and Xist 81
6.5. Silencing the Inactive X Chromosome 85
6.6. Choosing the Active X Chromosome 90
6.7. Summary and Speculations 96
Chapter 7 Theme 2: Subsequent Steps—Spreading
and Maintaining Inactivation 9 8
7.1. Spreading Inactivation by Modifying Chromatin 99
7.2. Maintaining Inactivation by DNA Methylation of CpG Islands 106
7.3. Escape from Inactivation 109
7.4. Transient X Inactivation in Germ Cells 113
7.5. Induced X Reactivation in Placental Cells 115
7.6. Role of DNA Replication in X Inactivation 116
7. 7. Summary and Speculations 117
Chapter 8 Variations 1: Stability of the Inactive X 119
8.1. Variations on the Themes of X Inactivation 120
8.2. Divergence in the Physical Map 120
8.3. Stability of X Inactivation 122
8.4. Summary and Speculations 126
Chapter 9 Variations 2: Choice of ActiveX 127
9.1. Primary NonrandomX Inactivation 127
9.2. Paternal X Inactivation 131
x Contents
9.3. Relationship of Paternal X Inactivation to
Genomic Imprinting 133
9.4. Does Antisense Transcription Have a Role? 136
9.5. Evolution and Tinkering 140
9.6. Effect of Inactivation Timing 141
9.7. Summary and Speculations 143
Part III. Medical Consequences of X Inactivation
Chapter 10 The Single Active X 147
10.1. Coping with a Monosomy X 147
10.2. Sex Differences in Susceptibility to Disease 149
10.3. Viability of Turner Syndrome, Klinefelter Syndrome,
and X Chromosome Aneuploidy 150
10.4. X Deletions, Ring X Chromosomes, X Duplications,
and Functional Disomy 156
10.5. X/Autosome Translocations and Spreading of Inactivation 158
10.6. Polyploidy and the Choice of ActiveX 161
10.7. Summary and Speculations 163
Chapter 11 Mosaicism 165
11.1. The X Linked Phenotype Is Dominant at the Cellular Level 165
11.2. Females Are Mosaics 166
11.3. Interaction between Mosaic Cell Populations 168
11.4. Skewing of X Inactivation Patterns 176
11.5. Effect ofX Inactivation on Clinical Phenotype 184
11.6. "Manifesting" Heterozygotes 199
11.7. Summary and Speculations 203
Chapter 12 Determinants of Female Phenotypes 206
12.1. The Dynamic Effect of Interacting Cell Populations
on the Health of Females 207
12.2. The Effect of X Inactivation on Normal Female
Phenotype and Cell Diversity 209
12.3. Epilogue 211
Appendix A Descriptions of Model X linked and
Other Relevant Diseases 213
Appendix B Sex Chromosome Aneuploidy,
Polyploidy, and Parthenogenetic Conceptuses 227
Glossary 233
References 241
Index 259
Contents xi |
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| illustrated | Illustrated |
| index_date | 2024-07-02T17:27:26Z |
| indexdate | 2024-07-09T20:57:20Z |
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| isbn | 9780195188127 0195188128 |
| language | English |
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| spelling | Migeon, Barbara R. Verfasser aut Females are mosaics X inactivation and sex differences in disease Barbara R. Migeon Oxford [u.a.] Oxford Univ. Press 2007 XI, 271 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references X chromosome Mosaicism Sex determination, Genetic Sex-linkage (Genetics) X Chromosome Inactivation physiology Genetic Diseases, X-Linked Sex Factors Pathomechanismus (DE-588)4173544-4 gnd rswk-swf X-Chromosom (DE-588)4190368-7 gnd rswk-swf Inaktivierung (DE-588)4284643-2 gnd rswk-swf X-Chromosom (DE-588)4190368-7 s Inaktivierung (DE-588)4284643-2 s Pathomechanismus (DE-588)4173544-4 s DE-604 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=015634076&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Migeon, Barbara R. Females are mosaics X inactivation and sex differences in disease X chromosome Mosaicism Sex determination, Genetic Sex-linkage (Genetics) X Chromosome Inactivation physiology Genetic Diseases, X-Linked Sex Factors Pathomechanismus (DE-588)4173544-4 gnd X-Chromosom (DE-588)4190368-7 gnd Inaktivierung (DE-588)4284643-2 gnd |
| subject_GND | (DE-588)4173544-4 (DE-588)4190368-7 (DE-588)4284643-2 |
| title | Females are mosaics X inactivation and sex differences in disease |
| title_auth | Females are mosaics X inactivation and sex differences in disease |
| title_exact_search | Females are mosaics X inactivation and sex differences in disease |
| title_exact_search_txtP | Females are mosaics X inactivation and sex differences in disease |
| title_full | Females are mosaics X inactivation and sex differences in disease Barbara R. Migeon |
| title_fullStr | Females are mosaics X inactivation and sex differences in disease Barbara R. Migeon |
| title_full_unstemmed | Females are mosaics X inactivation and sex differences in disease Barbara R. Migeon |
| title_short | Females are mosaics |
| title_sort | females are mosaics x inactivation and sex differences in disease |
| title_sub | X inactivation and sex differences in disease |
| topic | X chromosome Mosaicism Sex determination, Genetic Sex-linkage (Genetics) X Chromosome Inactivation physiology Genetic Diseases, X-Linked Sex Factors Pathomechanismus (DE-588)4173544-4 gnd X-Chromosom (DE-588)4190368-7 gnd Inaktivierung (DE-588)4284643-2 gnd |
| topic_facet | X chromosome Mosaicism Sex determination, Genetic Sex-linkage (Genetics) X Chromosome Inactivation physiology Genetic Diseases, X-Linked Sex Factors Pathomechanismus X-Chromosom Inaktivierung |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=015634076&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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