Function of the sex chromosomes in mammalian fertility
Edith Heard, James Turner
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.
Cold Spring Harbor perspectives in biology
10.1101/cshperspect.a002675
Dive into the research topics of 'Function of the sex chromosomes in mammalian fertility'. Together they form a unique fingerprint.
Sex Chromosome Agricultural and Biological Sciences 100%
X Chromosome Medicine and Dentistry 25%
Genes Agricultural and Biological Sciences 25%
Chromosome Abnormality Biochemistry, Genetics and Molecular Biology 25%
Y Chromosome Medicine and Dentistry 16%
Germ Cell Medicine and Dentistry 16%
Cell Maturation Medicine and Dentistry 16%
Heard, E., & Turner, J. (2011). Function of the sex chromosomes in mammalian fertility. Cold Spring Harbor perspectives in biology, 3(10), 1-17. https://doi.org/10.1101/cshperspect.a002675
Heard, Edith ; Turner, James. / Function of the sex chromosomes in mammalian fertility. In: Cold Spring Harbor perspectives in biology. 2011 ; Vol. 3, No. 10. pp. 1-17.
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title = "Function of the sex chromosomes in mammalian fertility",
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. {\textcopyright} 2012 Cold Spring Harbor Laboratory Press.",
author = "Edith Heard and James Turner",
doi = "10.1101/cshperspect.a002675",
journal = "Cold Spring Harbor perspectives in biology",
publisher = "Cold Spring Harbor Laboratory Press",
Heard, E & Turner, J 2011, 'Function of the sex chromosomes in mammalian fertility', Cold Spring Harbor perspectives in biology, vol. 3, no. 10, pp. 1-17. https://doi.org/10.1101/cshperspect.a002675
Function of the sex chromosomes in mammalian fertility. / Heard, Edith; Turner, James.
In: Cold Spring Harbor perspectives in biology, Vol. 3, No. 10, 01.01.2011, p. 1-17.
T1 - Function of the sex chromosomes in mammalian fertility
AU - Heard, Edith
AU - Turner, James
N2 - 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.
AB - 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.
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Heard E, Turner J. Function of the sex chromosomes in mammalian fertility. Cold Spring Harbor perspectives in biology. 2011 Jan 1;3(10):1-17. doi: 10.1101/cshperspect.a002675