Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions

Reynard, Louise N.; Turner, James M. A.

doi:10.1242/jcs.049916

Cited by 24 publications

(23 citation statements)

References 50 publications

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“…Sly localizes on PMSC, and Sly knockdown decreases the level of HP1 and H3K9 methylation on PMSC, suggesting the possible role of SLY in the maintenance of postmeiotic silencing. Additionally, studies involving the large deletion of the Y-chromosome section where Sly is encoded show consistent results [118]. …”

Section: Introductionmentioning

confidence: 78%

Sex chromosome inactivation in germ cells: emerging roles of DNA damage response pathways

Ichijima

Sin

Namekawa

2012

Cell. Mol. Life Sci.

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Sex chromosome inactivation in male germ cells is a paradigm of epigenetic programming during sexual reproduction. Recent progress has revealed the underlying mechanisms of sex chromosome inactivation in male meiosis. The trigger of chromosome-wide silencing is activation of the DNA damage response (DDR) pathway, which is centered on the mediator of DNA damage checkpoint 1 (MDC1), a binding partner of phosphorylated histone H2AX (γH2AX). This DDR pathway shares features with the somatic DDR pathway recognizing DNA replication stress in the S phase. Additionally, it is likely to be distinct from the DDR pathway that recognizes meiosis-specific double-strand breaks. This review article extensively discusses the underlying mechanism of sex chromosome inactivation.

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Section: Introductionmentioning

confidence: 78%

Sex chromosome inactivation in germ cells: emerging roles of DNA damage response pathways

Ichijima

Sin

Namekawa

2012

Cell. Mol. Life Sci.

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“…In reproductively normal males, the X and Y chromosomes are transcriptionally silenced midway through meiosis I (McKee and Handel 1993;Turner 2007) and remain repressed in haploid spermatids (postmeiotic sex chromatin repression, PSCR) (Namekawa et al 2006;Turner et al 2006). However, Sly, along with several other multicopy genes on both sex chromosomes, escapes PSCR and is thought to be essential for proper transcriptional regulation of the X and Y during sperm differentiation (Mueller et al 2008;Cocquet et al 2009;Reynard and Turner 2009;. Notably, PSCR is disrupted in Sly-deficient laboratory mice, resulting in the upregulation of X-and Y-linked postmeiotic genes and sperm head abnormalities ).…”

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confidence: 99%

The Contribution of the Y Chromosome to Hybrid Male Sterility in House Mice

et al. 2012

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Hybrid sterility in the heterogametic sex is a common feature of speciation in animals. In house mice, the contribution of the Mus musculus musculus X chromosome to hybrid male sterility is large. It is not known, however, whether F 1 male sterility is caused by X-Y or X-autosome incompatibilities or a combination of both. We investigated the contribution of the M. musculus domesticus Y chromosome to hybrid male sterility in a cross between wild-derived strains in which males with a M. m. musculus X chromosome and M. m. domesticus Y chromosome are partially sterile, while males from the reciprocal cross are reproductively normal. We used eight X introgression lines to combine different X chromosome genotypes with different Y chromosomes on an F 1 autosomal background, and we measured a suite of male reproductive traits. Reproductive deficits were observed in most F 1 males, regardless of Y chromosome genotype. Nonetheless, we found evidence for a negative interaction between the M. m. domesticus Y and an interval on the M. m. musculus X that resulted in abnormal sperm morphology. Therefore, although F 1 male sterility appears to be caused mainly by Xautosome incompatibilities, X-Y incompatibilities contribute to some aspects of sterility.

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“…Cite this article as Cold Spring Harb Perspect Biol 2011;3:a002675 chromatin-mediated defect in the maintenance of XY silencing (Reynard and Turner 2009). Accordingly, repressive histone marks, including H3K9me3 and CBX1, are reduced or absent on the spermatid X and Y chromosomes in Yq mutants (Reynard and Turner 2009).…”

Section: Function Of the Sex Chromosomes In Mammalian Fertilitymentioning

confidence: 99%

“…Accordingly, repressive histone marks, including H3K9me3 and CBX1, are reduced or absent on the spermatid X and Y chromosomes in Yq mutants (Reynard and Turner 2009). Interestingly, SLY protein localizes to both the X and the Y chromosomes during spermatid development, and mice depleted in SLY through small interfering RNA-based approaches show exactly the same sex chromatin defects as males with Yq deletions ).…”

Section: Function Of the Sex Chromosomes In Mammalian Fertilitymentioning

confidence: 99%

Function of the Sex Chromosomes in Mammalian Fertility

Heard

Turner²

2011

Cold Spring Harbor Perspectives in Biology

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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.T he evolution of sex chromosomes from a pair of autosomes is clearly advantageous to species in enabling sexual reproduction and the genetic fitness that results, but also necessitates the coevolution of strategies to deal with unique situations that arise. These include the lack of homology between the X and Y chromosomes in the male germline in which autosomal homologs must pair and the imbalance in Xlinked gene dosage between males and females. In mammals, this sex chromosome imbalance is dealt with by inactivating one of the two X chromosomes during early female development. In the female germline, the inactive X chromosome is reactivated before meiosis. In the male germline, the X and Y chromosomes undergo meiotic inactivation that is linked to their unique unpaired status. This is a conserved process and has important implications for the evolution of sex chromosome gene content. In this article, we will cover these different aspects of sex chromosome behavior and function in mammals, including the role of sex chromosomes in sex determination and the behavior of the sex chromosomes during gametogenetesis, particularly in the male germline.

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Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions

Cited by 24 publications

References 50 publications

Sex chromosome inactivation in germ cells: emerging roles of DNA damage response pathways

Sex chromosome inactivation in germ cells: emerging roles of DNA damage response pathways

The Contribution of the Y Chromosome to Hybrid Male Sterility in House Mice

Function of the Sex Chromosomes in Mammalian Fertility

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