Females Are Mosaics: X Inactivation and Sex Differences in Disease

Hardcover | November 26, 2013

byBarbara Migeon

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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, females have two X chromosomes in every cell. Much has been written about the Y chromosome and its role in inducing maleness.This is the only 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. This new edition reflects research advances from the six years since the widely praised first edition. New advances include knowledge ofspecies differences in mammalian X inactivation processes and silencing of the inactive X chromosome.

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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, females have two X chromosomes in every cell. Much has been written about the Y chromosome and its role in inducing maleness.This is the only book about the X chromosome a...

Barbara Migeon, MD, has held fellowships in pediatrics, endocrinology and genetics. She is board certified in pediatrics, biochemical genetics and cytogenetics. She was the founding director of the Hopkins PhD Program in Human Genetics. Her research has been focused on the molecular mechanisms of X inactivation in human cell and the cl...

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Format:HardcoverDimensions:328 pages, 9.25 × 6.12 × 0.98 inPublished:November 26, 2013Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199927537

ISBN - 13:9780199927531

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Table of Contents

IntroductionPart I Background1. Sex Differences in Disease1.1. Males More Vulnerable at Every Age1.2. Vulnerability of Males Leads to Sex-Specific Disease1.3. Summary and Speculations2. Evolution of the Human Sex Chromosomes and a Portrait of the Human X2.1. Chromosomal Basis of Sex Determination2.2. The Human Sex Chromosomes Evolved from Reptilian Autosomes2.3. Degeneration of the Y Chromosome2.4. Ohno's Law and the Conservation of the Original X2.5. Residual Homology and the Pseudoautosomal Regions2.6. Genetic Portrait of the Human X2.7. Summary and Speculations3. X Chromosome Dosage Compensation: An Overview3.1. X Chromosome Dosage Compensation3.2. Heterochromatin and Chromosome Silencing3.3. Role in Sex Determination3.4. Mechanisms of Dosage Compensation in Other Organisms3.5. Mechanisms of Dosage Compensation in Mammals3.6. Summary and Speculations4. The Discovery of X Chromosome Inactivation4.1. The Lyon Hypothesis4.2. General Scheme of Mammalian Dosage Compensation4.3. Summary and Speculations5. Experimental Models for X Inactivation Studies5.1. Spontaneous Human Mutations that Interfere with Inactivation5.2. X-Linked Protein Variants Distinguish Parental Origin of X Chromosomes5.3. Characterizing the Inactive X in Human Cell Cultures and Clones5.4. Mouse-Human Hybrids Separate Inactive from Active X5.5. Mouse Embryonic Stem Cells for Manipulating the Early Steps in X Inactivation5.6. Transgenic Mice as a Functional Assay5.7. Assays for X Inactivation Patterns in Heterozygotes5.8. Summary and SpeculationsPart II. Themes and Variations of X Inactivation6. Theme 1: The Initial Steps-Creating the Active and Inactive X6.1. Characteristics of the Inactive X Chromosome6.2. Time of Initiation in the Embryo6.3. Cis Inactivation6.4. The Master Control Region: XIC and Xist6.5. Silencing the Inactive X Chromosome6.6. Single Active X Versus X Inactivation6.7. Choosing the Active X Chromosome6.8. Summary and Speculations7. Theme 2: Subsequent Steps-Spreading and Maintaining Inactivation7.1. Spreading Inactivation by Modifying Chromatin7.2. Maintaining Inactivation by DNA Methylation of CpG Islands7.3. Escape from Inactivation7.4. Transient X Inactivation in Germ Cells7.5. Induced X Reactivation in Placental Cells7.6. Role of DNA Replication in X Inactivation7.7. Summary and Speculations8. Variations 1: Evolution of the X Inactivation Center8.1. Variations on the Themes of X Inactivation8.2. Divergence in the Physical Map8.3. The Effect of Map Changes on X Inactivation in Mouse and Man9. Variations 2: Stability of the Inactive X9.1. Stability of X Inactivation and DNA Methylation9.2 Genes that Escape Inactivation9.3. Summary and Speculations10. Variations 3: Choice of Active X10.1. Primary Nonrandom X Inactivation10.2. Paternal X Inactivation10.3. Relationship of Paternal X Inactivation to Genomic Imprinting10.4. Does Antisense Transcription Have a Role?10.5. Evolution and Tinkering10.6. Effect of Inactivation Timing10.7. Summary and SpeculationsPart III. Medical Consequences of X Inactivation11. The Single Active X11.1. Coping with a Monosomy X11.2. Dosage Compensation of the Active X11.3. Sex Differences in Susceptibility to Disease11.4. Viability of Turner Syndrome, Klinefelter Syndrome, and X Chromosome Aneuploidy11.5. X Deletions, Ring X Chromosomes, X Duplications, and Functional Disomy11.6. X/Autosome Translocations and Spreading of Inactivation11.7. Polyploidy and the Choice of Active X118. Summary and Speculations12. Mosaicism12.1. The X-Linked Phenotype Is Dominant at the Cellular Level12.2. Females Are Mosaics12.3. Interaction between Mosaic Cell Populations12.4. Skewing of X Inactivation Patterns12.5. Effect of X Inactivation on Clinical Phenotype12.6. "Manifesting" Heterozygotes12.7. Summary and Speculations13. Epimutations, Chromatin Disorders and Sex Differences in Phenotype13.1 Epimutations Usually Cause Somatic Diseases13.2 Epimutations in Imprinting Disorders13.3 Epigenetic Regulation of Autosomal Gene Expression by Sex Chromosomes13.4 Disorders of the Epigenetic Machinery13.5 Sex Differences in Manifestations of Chromatin Disorders13.6 Treatment of Chromatin Disorders13.7 Summary and Speculations14. Determinants of Female Phenotypes14.1 The Dynamic Effect of Interacting Cell Populations on the Health of Females14.2 The Effect of X Inactivation on Normal Female Phenotype and Cell Diversity14.3. EpilogueAppendix A Descriptions of Model X-linked and Other Relevant DiseasesAppendix B Sex Chromosome Aneuploidy, Polyploidy, and Parthenogenetic ConceptusesAppendix C Effect of X Inactivation on Phenotype and Cell Selection in X-linked DisordersGlossaryReferencesIndex