Females Are Mosaics - Barbara Migeon

Females Are Mosaics

X Inactivation and Sex Differences in Disease

(Autor)

Buch | Hardcover
284 Seiten
2007
Oxford University Press Inc (Verlag)
978-0-19-518812-7 (ISBN)
52,35 inkl. MwSt
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Talks 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 book 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.
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.

Introduction; PART I. BACKGROUND; 1. Sex Differences in Disease; 2. Evolution of the Human Sex Chromosomes and a Portrait of the Human X; 3. X Chromosome Dosage Compensation: An Overview; 4. The Discovery of X Chromosome Inactivation; 5. Experimental Models for X Inactivation Studies; PART II. THEMES AND VARIATIONS OF X INACTIVATION; 6. Theme 1: The Initial Steps - Creating the Active and Inactive X; 7. Theme 2: The Subsequent Steps - Spreading and Maintaining Inactivation; 8. Variations 1: Stability of the Inactive X; 9. Variations 2: Choice of Active X; PART III. MEDICAL CONSEQUENCES OF X INACTIVATION; 10. The Single Active X; 11. Mosaicism; 12. Determinants of Female Phenotypes

Erscheint lt. Verlag 15.3.2007
Zusatzinfo 8 pp colour plates, 24 halftones, 35 line illustrations, tables
Verlagsort New York
Sprache englisch
Gewicht 568 g
Themenwelt Studium 2. Studienabschnitt (Klinik) Humangenetik
ISBN-10 0-19-518812-8 / 0195188128
ISBN-13 978-0-19-518812-7 / 9780195188127
Zustand Neuware
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