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Females are mosaics : X inactivation and sex differences in disease / Barbara R. Migeon.

By: Material type: TextTextPublication details: Oxford ; New York : Oxford University Press, 2007.Description: 1 online resource (xi, 271 pages, 8 unnumbered pages of plates) : illustrations (some color)Content type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9780199720064
  • 0199720061
  • 128116268X
  • 9781281162687
Other title:
  • X inactivation and sex differences in disease
Subject(s): Genre/Form: Additional physical formats: Print version:: Females are mosaics.DDC classification:
  • 616/.042 22
LOC classification:
  • QH600.5 .M54 2007eb
NLM classification:
  • 2007 E-069
  • QS 677
Online resources:
Contents:
Introduction; PART I. BACKGROUND; Chapter 1 Sex Differences in Disease; 1.1. Males More Vulnerable at Every Age; 1.2. Vulnerability of Males Leads to Sex-Specific Disease; 1.3. Summary and Speculations; Chapter 2 Evolution of the Human Sex Chromosomes and a Portrait of the Human X; 2.1. Chromosomal Basis of Sex Determination; 2.2. The Human Sex Chromosomes Evolved from Reptilian Autosomes; 2.3. Degeneration of the Y Chromosome; 2.4. Ohno's Law and the Conservation of the Original X; 2.5. Residual Homology and the Pseudoautosomal Regions; 2.6. Genetic Portrait of the Human X.
2.7. Summary and SpeculationsChapter 3 X Chromosome Dosage Compensation: An Overview; 3.1. X Chromosome Dosage Compensation; 3.2. Heterochromatin and Chromosome Silencing; 3.3. Role in Sex Determination; 3.4. Mechanisms of Dosage Compensation in Other Organisms; 3.5. Mechanisms of Dosage Compensation in Mammals; 3.6. Summary and Speculations; Chapter 4 The Discovery of X Chromosome Inactivation; 4.1. The Lyon Hypothesis; 4.2. General Scheme of Mammalian Dosage Compensation; 4.3. Summary and Speculations; Chapter 5 Experimental Models for X Inactivation Studies.
5.1. Spontaneous Human Mutations that Interfere with Inactivation5.2. X-Linked Protein Variants Distinguish Parental Origin of X Chromosomes; 5.3. Characterizing the Inactive X in Human Cell Cultures and Clones; 5.4. Mouse-Human Hybrids Separate Inactive from Active X; 5.5. Mouse Embryonic Stem Cells for Manipulating the Early Steps in X Inactivation; 5.6. Transgenic Mice as a Functional Assay; 5.7. Assays for X Inactivation Patterns in Heterozygotes; 5.8. Summary and Speculations; PART II. THEMES AND VARIATIONS OF X INACTIVATION.
Chapter 6 Theme 1: The Initial Steps-Creating the Active and Inactive X6.1. Characteristics of the Inactive X Chromosome; 6.2. Time of Initiation in the Embryo; 6.3. Cis Inactivation; 6.4. The Master Control Region: XIC and Xist; 6.5. Silencing the Inactive X Chromosome; 6.6. Choosing the Active X Chromosome; 6.7. Summary and Speculations; Chapter 7 Theme 2: Subsequent Steps-Spreading and Maintaining Inactivation; 7.1. Spreading Inactivation by Modifying Chromatin; 7.2. Maintaining Inactivation by DNA Methylation of CpG Islands; 7.3. Escape from Inactivation.
7.4. Transient X Inactivation in Germ Cells7.5. Induced X Reactivation in Placental Cells; 7.6. Role of DNA Replication in X Inactivation; 7. 7. Summary and Speculations; Chapter 8 Variations 1: Stability of the Inactive X; 8.1. Variations on the Themes of X Inactivation; 8.2. Divergence in the Physical Map; 8.3. Stability of X Inactivation; 8.4. Summary and Speculations; Chapter 9 Variations 2: Choice of Active X; 9.1. Primary Nonrandom X Inactivation; 9.2. Paternal X Inactivation; 9.3. Relationship of Paternal X Inactivation to Genomic Imprinting.
Summary: Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome (inherited from their mother), females have two X chromosomes in every cell (one from each parent). The fathers copy works in some cells, while the mothers copy works in others. These two X chromosomes often function differently, especially if one carries a defective gene. Much has been written about the Y chromosome and its role in inducing maleness. This will be the first book about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. Barbara Migeon, from the renowned McKusick-Nathan Institute at Johns Hopkins, is a major figure in clinical genetics and is eminently qualified to write this book, and she writes clearly and effectively. She describes both the underlying molecular mechanisms and the remarkable genetic consequences of X inactivation and its role in determining the biological concepts characteristic of women.
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Includes bibliographical references (pages 241-257) and index.

Print version record.

Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome (inherited from their mother), females have two X chromosomes in every cell (one from each parent). The fathers copy works in some cells, while the mothers copy works in others. These two X chromosomes often function differently, especially if one carries a defective gene. Much has been written about the Y chromosome and its role in inducing maleness. This will be the first book about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. Barbara Migeon, from the renowned McKusick-Nathan Institute at Johns Hopkins, is a major figure in clinical genetics and is eminently qualified to write this book, and she writes clearly and effectively. She describes both the underlying molecular mechanisms and the remarkable genetic consequences of X inactivation and its role in determining the biological concepts characteristic of women.

Introduction; PART I. BACKGROUND; Chapter 1 Sex Differences in Disease; 1.1. Males More Vulnerable at Every Age; 1.2. Vulnerability of Males Leads to Sex-Specific Disease; 1.3. Summary and Speculations; Chapter 2 Evolution of the Human Sex Chromosomes and a Portrait of the Human X; 2.1. Chromosomal Basis of Sex Determination; 2.2. The Human Sex Chromosomes Evolved from Reptilian Autosomes; 2.3. Degeneration of the Y Chromosome; 2.4. Ohno's Law and the Conservation of the Original X; 2.5. Residual Homology and the Pseudoautosomal Regions; 2.6. Genetic Portrait of the Human X.

2.7. Summary and SpeculationsChapter 3 X Chromosome Dosage Compensation: An Overview; 3.1. X Chromosome Dosage Compensation; 3.2. Heterochromatin and Chromosome Silencing; 3.3. Role in Sex Determination; 3.4. Mechanisms of Dosage Compensation in Other Organisms; 3.5. Mechanisms of Dosage Compensation in Mammals; 3.6. Summary and Speculations; Chapter 4 The Discovery of X Chromosome Inactivation; 4.1. The Lyon Hypothesis; 4.2. General Scheme of Mammalian Dosage Compensation; 4.3. Summary and Speculations; Chapter 5 Experimental Models for X Inactivation Studies.

5.1. Spontaneous Human Mutations that Interfere with Inactivation5.2. X-Linked Protein Variants Distinguish Parental Origin of X Chromosomes; 5.3. Characterizing the Inactive X in Human Cell Cultures and Clones; 5.4. Mouse-Human Hybrids Separate Inactive from Active X; 5.5. Mouse Embryonic Stem Cells for Manipulating the Early Steps in X Inactivation; 5.6. Transgenic Mice as a Functional Assay; 5.7. Assays for X Inactivation Patterns in Heterozygotes; 5.8. Summary and Speculations; PART II. THEMES AND VARIATIONS OF X INACTIVATION.

Chapter 6 Theme 1: The Initial Steps-Creating the Active and Inactive X6.1. Characteristics of the Inactive X Chromosome; 6.2. Time of Initiation in the Embryo; 6.3. Cis Inactivation; 6.4. The Master Control Region: XIC and Xist; 6.5. Silencing the Inactive X Chromosome; 6.6. Choosing the Active X Chromosome; 6.7. Summary and Speculations; Chapter 7 Theme 2: Subsequent Steps-Spreading and Maintaining Inactivation; 7.1. Spreading Inactivation by Modifying Chromatin; 7.2. Maintaining Inactivation by DNA Methylation of CpG Islands; 7.3. Escape from Inactivation.

7.4. Transient X Inactivation in Germ Cells7.5. Induced X Reactivation in Placental Cells; 7.6. Role of DNA Replication in X Inactivation; 7. 7. Summary and Speculations; Chapter 8 Variations 1: Stability of the Inactive X; 8.1. Variations on the Themes of X Inactivation; 8.2. Divergence in the Physical Map; 8.3. Stability of X Inactivation; 8.4. Summary and Speculations; Chapter 9 Variations 2: Choice of Active X; 9.1. Primary Nonrandom X Inactivation; 9.2. Paternal X Inactivation; 9.3. Relationship of Paternal X Inactivation to Genomic Imprinting.

WorldCat record variable field(s) change: 650

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