Function of the sex chromosomes in mammalian fertility

Edith Heard, James Turner

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

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. © 2012 Cold Spring Harbor Laboratory Press.
Original languageEnglish (US)
Pages (from-to)1-17
Number of pages17
JournalCold Spring Harbor perspectives in biology
Volume3
Issue number10
DOIs
StatePublished - Jan 1 2011
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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