Females are mosaics : X inactivation and sex differences in disease / Barbara R. Migeon.

Format:

Book

Author/Creator:

Migeon, Barbara R., author.

Series:

Oxford scholarship online.

Oxford scholarship online

Language:

English

Subjects (All):

X chromosome.

Mosaicism.

Genetic sex determination.

Sex-linkage (Genetics).

X Chromosome Inactivation--physiology.

Genetic Diseases, X-Linked.

Sex Factors.

Medical Subjects:

Mosaicism.

X Chromosome Inactivation--physiology.

Genetic Diseases, X-Linked.

Sex Factors.

Physical Description:

1 online resource (xi, 271 p., [8] p. of plates ) ill. (some col.)

Edition:

1st ed.

Other Title:

X inactivation and sex differences in disease

Place of Publication:

Oxford ; Oxford University Press, 2023.

Language Note:

English

Summary:

'Females are Mosaics' focuses on 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.

Contents:

Intro

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. 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 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: 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

9.4. Does Antisense Transcription Have a Role?

9.5. Evolution and Tinkering

9.6. Effect of Inactivation Timing

9.7. Summary and Speculations

PART III. MEDICAL CONSEQUENCE OF X INACTIVATION

Chapter 10 The Single Active X

10.1. Coping with a Monosomy X

10.2. Sex Differences in Susceptibility to Disease

10.3. Viability of Turner Syndrome, Klinefelter Syndrome, and X Chromosome Aneuploidy

10.4. X Deletions, Ring X Chromosomes, X Duplications, and Functional Disomy

10.5. X/Autosome Translocations and Spreading of Inactivation

10.6. Polyploidy and the Choice of Active X

10.7. Summary and Speculations

Chapter 11 Mosaicism

11.1. The X-Linked Phenotype Is Dominant at the Cellular Level

11.2. Females Are Mosaics.

11.3. Interaction between Mosaic Cell Populations

11.4. Skewing of X Inactivation Patterns

11.5. Effect of X Inactivation on Clinical Phenotype

11.6. "Manifesting" Heterozygotes

11.7. Summary and Speculations

Chapter 12 Determinants of Female Phenotypes

12.1. The Dynamic Effect of Interacting Cell Populations on the Health of Females

12.2. The Effect of X Inactivation on Normal Female Phenotype and Cell Diversity

12.3. Epilogue

Appendix A: Descriptions of Model X-linked and Other Relevant Diseases

Appendix B: Sex Chromosome Aneuploidy, Polyploidy, and Parthenogenetic Conceptuses

Glossary

A

B

C

D

E

F

G

H

I

K

L

M

N

O

P

R

S

T

X

References

Index

J

U

W

Y

Z.

Notes:

Formerly CIP.

Previously issued in print: 2007.

Includes bibliographical references (pages 241-257) and index.

Derived record based on print version record and publisher information.

ISBN:

0-19-020847-3

0-19-770667-3

1-281-16268-X

0-19-972006-1

1-4294-8700-3

OCLC:

923707823