Rövid leírás:
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 it role in determining the biological concepts characteristic of women.
Több
Hosszú leírás:
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 father’s copy works in some cells, while the mother’s 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.
Több
Tartalomjegyzék:
Introduction
Part I. Background
Sex Differences in Disease
Evolution of the Human Sex Chromosomes and a Portrait of the Human X
X Chromosome Dosage Compensation: An Overview
The Discovery of X Chromosome Inactivation
Experimental Models for X Inactivation Studies
Part II. Themes and Variations of X Inactivation
Theme 1: The Initial Steps – Creating the Active and Inactive X
Theme 2: The Subsequent Steps – Spreading and Maintaining Inactivation
Variations 1: Stability of the Inactive X
Variations 2: Choice of Active X
Part III. Medical Consequences of X Inactivation
The Single Active X
Mosaicism
Determinants of Female Phenotypes
