Females Are Mosaics: X Inactivation and Sex Differences in Disease

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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 (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.

Females are Mosaics will be valuable to geneticists, biologists, and all health professionals interested in women's health.

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Editorial Reviews

Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: 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. It places in perspective the biological advantage that female mosaicism provides in relation to sex-specific manifestations of diseases. This wonderful book is clearly written and carefully organized into 12 easy to follow chapters. Two appendixes describe the model of X-linked and other relevant disorders and present situational descriptions of sex chromosome aneuploidies, polyploidy, and parthenogenetic conceptuses.
Purpose: As the author mentions in her introduction, "I am surprised by the relatively small impact this subject (X-chromosome, female mosaicism) has had in medicine." She points out the importance of the X chromosome from evolution to pathogenetic mechanisms and aims to detail concepts that can be used by biological scientists as well as inexperienced persons in biology. Her goals are wonderfully and accurately met.
Audience: The book is intended for physicians, medical students, genetic counselors, nurses, and other health professionals. The design enables all interested readers to understand the material well. Learning about the determinants of femaleness in this book becomes a unique discussion of current information for a vast audience. Rarely do I find a book with an unlimited audience such as this one.
Features: I was particularly fascinated by the coverage of the evolutionary origins of the Y chromosome and the biological advantage of females in terms of sex-specific disorders described in chapter 1. The 12 chapters are presented in a well-planned sequence that makes it easy for readers to understand the subject. The review of X inactivation is exquisite, but even more impressive is the discussion of the initial steps in creating the active and inactive X in chapter 6. The book includes a useful glossary and appropriate references.
Assessment: 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.
From The Critics
Reviewer: Luis F. Escobar, MD, MS(St. Vincent Hospital and Health Care Center)
Description: 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. It places in perspective the biological advantage that female mosaicism provides in relation to sex-specific manifestations of diseases. This wonderful book is clearly written and carefully organized into 12 easy to follow chapters. Two appendixes describe the model of X-linked and other relevant disorders and present situational descriptions of sex chromosome aneuploidies, polyploidy, and parthenogenetic conceptuses.
Purpose: As the author mentions in her introduction, "I am surprised by the relatively small impact this subject (X-chromosome, female mosaicism) has had in medicine." She points out the importance of the X chromosome from evolution to pathogenetic mechanisms and aims to detail concepts that can be used by biological scientists as well as inexperienced persons in biology. Her goals are wonderfully and accurately met.
Audience: The book is intended for physicians, medical students, genetic counselors, nurses, and other health professionals. The design enables all interested readers to understand the material well. Learning about the determinants of femaleness in this book becomes a unique discussion of current information for a vast audience. Rarely do I find a book with an unlimited audience such as this one.
Features: I was particularly fascinated by the coverage of the evolutionary origins of the Y chromosome and the biological advantage of females in terms of sex-specific disorders described in chapter 1. The 12 chapters are presented in a well-planned sequence that makes it easy for readers to understand the subject. The review of X inactivation is exquisite, but even more impressive is the discussion of the initial steps in creating the active and inactive X in chapter 6. The book includes a useful glossary and appropriate references.
Assessment: 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.
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Product Details

  • ISBN-13: 9780195188127
  • Publisher: Oxford University Press, USA
  • Publication date: 3/15/2007
  • Pages: 296
  • Product dimensions: 9.30 (w) x 6.20 (h) x 1.20 (d)

Meet the Author

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 clinical consequences of the single active X chromosome.

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Table of Contents

Introduction.

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