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Book Cover
E-book
Author Migeon, Barbara R.

Title Females are mosaics : X inactivation and sex differences in disease / Barbara R. Migeon
Published Oxford ; New York : Oxford University Press, 2007

Copies

Description 1 online resource (xi, 271 pages, 8 unnumbered pages of plates) : illustrations (some color)
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
Bibliography Includes bibliographical references (pages 241-257) and index
Notes English
Print version record
Subject X chromosome.
Mosaicism.
Genetic sex determination
Sex-linkage (Genetics)
Sex factors in disease.
X Chromosome Inactivation -- physiology
X Chromosome
Mosaicism
Genetic Diseases, X-Linked
Sex Factors
HEALTH & FITNESS -- Diseases -- Genetic.
MEDICAL -- Genetics.
Sex factors in disease
Mosaicism
Genetic sex determination
Sex-linkage (Genetics)
X chromosome
Form Electronic book
LC no. 2006043792
ISBN 9780199720064
0199720061
128116268X
9781281162687
1429487003
9781429487009
Other Titles X inactivation and sex differences in disease