The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases

Research output: Contribution to journalArticle

Abstract

Sex-specific manifestations of disease are most often attributed to differences in the reproductive apparatus or in life experiences. However, a good deal of sex differences in health issues have their origins in the genes on the sex chromosomes themselves and in X inactivation-the developmental program that equalizes their expression in males and females. Most females are mosaics, having a mixture of cells expressing either their mother's or father's X-linked genes. Often, cell mosaicism is advantageous, ameliorating the deleterious effects of X-linked mutations and contributing to physiological diversity. As a consequence, most X-linked mutations produce male-only diseases. Yet, in some cases the dynamic interactions between cells in mosaic females lead to female-specific disease manifestations.

Original languageEnglish (US)
Pages (from-to)1428-1433
Number of pages6
JournalJournal of the American Medical Association
Volume295
Issue number12
DOIs
StatePublished - Mar 22 2006

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X Chromosome Inactivation
Mosaicism
Women's Health
X-Linked Genes
Mutation
Sex Chromosomes
Life Change Events
Cell Communication
Fathers
Sex Characteristics
Mothers
Health
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. / Migeon, Barbara R.

In: Journal of the American Medical Association, Vol. 295, No. 12, 22.03.2006, p. 1428-1433.

Research output: Contribution to journalArticle

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