Females Are Mosaics: X Inactivation and Sex Differences in Disease

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Migeon writes. However, researchers have begun to recognize that diseases may be expressed differently in men and women, and that not all of the differences can be explained by hormones alone.

Females Are Mosaics: X Inactivation and Sex Differences in Disease

For instance, male infants have a greater death rate than females and are more susceptible to infections, such as meningitis. The sex chromosomes, known as X and Y, determine the sex of a child and may also offer additional explanations for sex differences in disease, Dr. Females are born with two X chromosomes, one from each parent, and males inherit one X chromosome from their mothers and one Y chromosome from their fathers. More than 1, genes reside on the X chromosome and are therefore known as X-linked genes, she continues.


In contrast, the Y-chromosome carries the instructions for male development and little else--probably fewer than genes in all--and lacks working copies of many of the X-linked genes. Yet the same mutated allele is usually less deleterious to a female, because she has a normal functioning copy on the other X chromosome.

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This is why so many male-only diseases are attributable to defective genes on the X chromosome. This duplication of genes is generally advantageous to women, but is not as straightforward as having two copies of each gene to men's single copy.


Only one copy of each X-linked gene can be expressed, or turned on, in each individual cell in a woman's body. Silencing the Inactive X Chromosome 6. Choosing the Active X Chromosome 6. Spreading Inactivation by Modifying Chromatin 7. Escape from Inactivation 7.

Transient X Inactivation in Germ Cells 7. Induced X Reactivation in Placental Cells 7. Variations on the Themes of X Inactivation 8.

X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases

Divergence in the Physical Map 8. Primary Nonrandom X Inactivation Paternal X Inactivation Does Antisense Transcription Have a Role? Evolution and Tinkering Effect of Inactivation Timing Coping with a Monosomy X Dosage Compensation of the Active X Sex Differences in Susceptibility to Disease Polyploidy and the Choice of Active X Summary and Speculations Chapter 12 Mosaicism Females Are Mosaics Interaction between Mosaic Cell Populations Skewing of X Inactivation Patterns Effect of X Inactivation on Clinical Phenotype Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies.

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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.

Book Review | NEJM

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.

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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.