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 language | English (US) |
|---|---|
| Pages (from-to) | 1-17 |
| Number of pages | 17 |
| Journal | Cold Spring Harbor perspectives in biology |
| Volume | 3 |
| Issue number | 10 |
| DOIs | |
| State | Published - Jan 1 2011 |
| Externally published | Yes |
Bibliographical note
Generated from Scopus record by KAUST IRTS on 2021-03-16ASJC Scopus subject areas
- General Medicine