Overview

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 of species differences in mammalian X inactivation processes and silencing of the inactive X chromosome.

Full Product Details

Author:   Barbara Migeon (Professor of Pediatrics, Professor of Pediatrics, Johns Hopkins University, Baltimore, MD, USA)
Publisher:   Oxford University Press Inc
Imprint:   Oxford University Press Inc
Edition:   2nd Revised edition
Dimensions:   Width: 23.60cm , Height: 2.50cm , Length: 16.30cm
Weight:   0.612kg
ISBN:  

9780199927531

ISBN 10:   0199927537
Pages:   328
Publication Date:   05 December 2013
Audience:   College/higher education ,  Professional and scholarly ,  Postgraduate, Research & Scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   Manufactured on demand  
We will order this item for you from a manufactured on demand supplier.

Table of 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 Speculations Chapter 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 Inactivation 5.2. 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 X 6.1. 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. Single Active X Versus X Inactivation 6.7. Choosing the Active X Chromosome 6.8. 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 Cells 7.5. Induced X Reactivation in Placental Cells 7.6. Role of DNA Replication in X Inactivation 7.7. Summary and Speculations Chapter 8 Variations 1: Evolution of the X Inactivation Center 8.1. Variations on the Themes of X Inactivation 8.2. Divergence in the Physical Map 8.3. The Effect of Map Changes on X Inactivation in Mouse and Man Chapter 9 Variations 2: Stability of the Inactive X 9.1. Stability of X Inactivation & DNA Methylation 9.2 Genes that Escape Inactivation 9.3. Summary and Speculations Chapter 10 Variations 3: Choice of Active X 10.1. Primary Nonrandom X Inactivation 10.2. Paternal X Inactivation 10.3. Relationship of Paternal X Inactivation to Genomic Imprinting 10.4. Does Antisense Transcription Have a Role? 10.5. Evolution and Tinkering 10.6. Effect of Inactivation Timing 10.7. Summary and Speculations Part III. Medical Consequences of X Inactivation Chapter 11 The Single Active X 11.1. Coping with a Monosomy X 11.2. Dosage Compensation of the Active X 11.3. Sex Differences in Susceptibility to Disease 11.4. Viability of Turner Syndrome, Klinefelter Syndrome, and X Chromosome Aneuploidy 11.5. X Deletions, Ring X Chromosomes, X Duplications, and Functional Disomy 11.6. X/Autosome Translocations and Spreading of Inactivation 11.7. Polyploidy and the Choice of Active X 11.8. Summary and Speculations Chapter 12 Mosaicism 12.1. The X-Linked Phenotype Is Dominant at the Cellular Level 12.2. Females Are Mosaics 12.3. Interaction between Mosaic Cell Populations 12.4. Skewing of X Inactivation Patterns 12.5. Effect of X Inactivation on Clinical Phenotype 12.6. ""Manifesting"" Heterozygotes 12.7. Summary and Speculations Chapter 13 Epimutations, Chromatin Disorders and Sex Differences in Phenotype 13.1 Epimutations Usually Cause Somatic Diseases 13.2 Epimutations in Imprinting Disorders 13.3 Epigenetic Regulation of Autosomal Gene Expression by Sex Chromosomes 13.4 Disorders of the Epigenetic Machinery 13.5 Sex Differences in Manifestations of Chromatin Disorders 13.6 Treatment of Chromatin Disorders 13.7 Summary and Speculations Chapter 14 Determinants of Female Phenotypes 14.1. The Dynamic Effect of Interacting Cell Populations on the Health of Females 14.2. The Effect of X Inactivation on Normal Female Phenotype and Cell Diversity 14.3. Epilogue Appendix A Descriptions of Model X-linked and Other Relevant Diseases Appendix B Sex Chromosome Aneuploidy, Polyploidy, and Parthenogenetic Conceptuses Appendix C Effect of X Inactivation on Phenotype and Cell Selection in X-linked Disorders Glossary References Index"

Reviews

This book provides a balanced overview of the field to date, allowing newcomers to the field to concentrate on the recent literature necessity...The information in the book is up-to-date and a superb introduction to the entire field for gradutate students and fellows. --Nature I thoroughly enjoyed reading this book...This important and enjoyable book should be read by physicians who care for women of all ages. --New England Journal of Medicine Migeon's eyewitness account of the discovery of X inactivation and the investigations of its mechanism is engaging...Biologists will appreciate the breadth of the book and the thorough referencing. --Science This is a magnificent discussion of the X chromosome function, mechanisms of expression, and the role of the X chromosome in embryogenesis and human pathology. Congratulations are due to Dr. Migeon for a job well done. This is a unique book with very few omissions. Reading it is a pleasure and the author adheres to her goals and provides unique information in a manner I have not seen before. This book has no comparison and I look forward to updated editions. --Doody's

<br> This book provides a balanced overview of the field to date, allowing newcomers to the field to concentrate on the recent literature necessity...The information in the book is up-to-date and a superb introduction to the entire field for gradutate students and fellows. --Nature<p><br> I thoroughly enjoyed reading this book...This important and enjoyable book should be read by physicians who care for women of all ages. --New England Journal of Medicine<p><br> This book provides a balanced overview of the field to date, allowing newcomers to the field to concentrate on the recent literature necessity...The information in the book is up-to-date and a superb introduction to the entire field for gradutate students and fellows. --Nature<p><br> I thoroughly enjoyed reading this book...This important and enjoyable book should be read by physicians who care for women of all ages. --New England Journal of Medicine<p><br> Migeons eyewitness account of the discovery of X inactivation and the investigations of its mechanism is engaging...Biologists will appreciate the breadth of the book and the thorough referencing. --Science<p><br> This is a magnificent discussion of the X chromosome function, mechanisms of expression, and the role of the X chromosome in embryogenesis and human pathology.Congratulations are due to Dr. Migeon for a job well done. This is a unique book <br>with very few omissions. Reading it is a pleasure and the author adheres to her goals and provides unique information in a manner I have not seen before. This book has no comparison and I look forward to updated editions. --Doody's<br><p><br>

This book provides a balanced overview of the field to date, allowing newcomers to the field to concentrate on the recent literature necessity...The information in the book is up-to-date and a superb introduction to the entire field for gradutate students and fellows. --Nature I thoroughly enjoyed reading this book...This important and enjoyable book should be read by physicians who care for women of all ages. --New England Journal of Medicine This book provides a balanced overview of the field to date, allowing newcomers to the field to concentrate on the recent literature necessity...The information in the book is up-to-date and a superb introduction to the entire field for gradutate students and fellows. --Nature I thoroughly enjoyed reading this book...This important and enjoyable book should be read by physicians who care for women of all ages. --New England Journal of Medicine Migeons eyewitness account of the discovery of X inactivation and the investigations of its mechanism is engaging...Biologists will appreciate the breadth of the book and the thorough referencing. --Science This is a magnificent discussion of the X chromosome function, mechanisms of expression, and the role of the X chromosome in embryogenesis and human pathology.Congratulations are due to Dr. Migeon for a job well done. This is a unique book with very few omissions. Reading it is a pleasure and the author adheres to her goals and provides unique information in a manner I have not seen before. This book has no comparison and I look forward to updated editions. --Doody's

Author Information

Barbara Migeon, MD, is Professor in the McKusick-Nathans Institute of Genetic Medicine and the Department of Pediatrics at the Johns Hopkins School of Medicine. She had fellowships in pediatrics, endocrinology and genetics and 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 clinical consequences of the single active X chromosome.

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