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Cold Spring Harb Perspect Biol. 2011 Oct 1;3(10):a002675. doi: 10.1101/cshperspect.a002675.

Function of the sex chromosomes in mammalian fertility.

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1
Mammalian Developmental Epigenetics Group, Institut Curie, CNRS UMR3215 INSERM U934, 75248 Paris Cedex 05, France. edith.heard@curie.fr

Abstract

The sex chromosomes play a highly specialized role in germ cell development in mammals, being enriched in genes expressed in the testis and ovary. Sex chromosome abnormalities (e.g., Klinefelter [XXY] and Turner [XO] syndrome) constitute the largest class of chromosome abnormalities and the commonest genetic cause of infertility in humans. Understanding how sex-gene expression is regulated is therefore critical to our understanding of human reproduction. Here, we describe how the expression of sex-linked genes varies during germ cell development; in females, the inactive X chromosome is reactivated before meiosis, whereas in males the X and Y chromosomes are inactivated at this stage. We discuss the epigenetics of sex chromosome inactivation and how this process has influenced the gene content of the mammalian X and Y chromosomes. We also present working models for how perturbations in sex chromosome inactivation or reactivation result in subfertility in the major classes of sex chromosome abnormalities.

PMID:
21730045
PMCID:
PMC3179336
DOI:
10.1101/cshperspect.a002675
[Indexed for MEDLINE]
Free PMC Article
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