Fertility in mice requires X-Y pairing and a Y-chromosomal “Spermiogenesis” gene mapping to the long arm

Burgoyne, Paul S.; Mahadevaiah, Shantha K.; Sutcliffe, Maxine J.; Palmer, Steve

doi:10.1016/0092-8674(92)90509-b

Cited by 174 publications

(115 citation statements)

References 33 publications

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“…We analysed the expression of nine X, two Y and eight randomly selected autosomally located genes in XY males compared with two MSYq mutants, the first with a deletion of two thirds of the Y chromosome (2/3MSYq-) and a second with complete absence of MSYq (MSYq-). Round spermatid development occurs normally in the two deletion models, with the relative proportion of spermatids at each of the eight steps of round spermatid development unchanged relative to the XY control (Burgoyne et al, 1992;Conway et al, 1994) (L.N.R., unpublished observations).…”

Section: Resultsmentioning

confidence: 99%

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

Reynard¹,

Turner²

2009

Journal of Cell Science

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During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm (MSYq–) have increased spermatid expression of multicopy X and Y genes, and so represent a model for studying post-meiotic sex chromosome repression. Here, we show that the increase in sex chromosome transcription in spermatids from MSYq– mice affects not only multicopy but also single-copy XY genes, as well as an X-linked reporter gene. This increase in transcription is accompanied by specific changes in the sex chromosome histone code, including almost complete loss of H4K8Ac and reduction of H3K9me3 and CBX1. Together, these data show that an MSYq gene regulates sex chromosome gene expression as well as chromatin remodelling in spermatids.

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Section: Resultsmentioning

confidence: 99%

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

Reynard¹,

Turner²

2009

Journal of Cell Science

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“…The higher male crossing-over rate in such regions in other organisms, such as humans and mice, is thought to be caused by the need for a crossover to ensure correct chromosome segregation (Burgoyne et al 1992;Matsuda et al 1992;Mohandas et al 1992); this leads to an elevated number of crossovers within this small physical region in males, whereas, in females, other parts of the sex chromosome pair can crossover (Lien et al 2000). In S. latifolia, however, the genetic map distances between PAR loci appear to be similar in female and male meiosis (Table 3).…”

Section: Genetic Map Of S Latifoliamentioning

confidence: 99%

Expansion of the Pseudo-autosomal Region and Ongoing Recombination Suppression in the Silene latifolia Sex Chromosomes

Bergero

Qiu

Forrest³

et al. 2013

Genetics

122

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There are two very interesting aspects to the evolution of sex chromosomes: what happens after recombination between these chromosome pairs stops and why suppressed recombination evolves. The former question has been intensively studied in a diversity of organisms, but the latter has been studied largely theoretically. To obtain empirical data, we used codominant genic markers in genetic mapping of the dioecious plant Silene latifolia, together with comparative mapping of S. latifolia sex-linked genes in S. vulgaris (a related hermaphrodite species without sex chromosomes). We mapped 29 S. latifolia fully sex-linked genes (including 21 newly discovered from transcriptome sequencing), plus 6 genes in a recombining pseudo-autosomal region (PAR) whose genetic map length is 25 cM in both male and female meiosis, suggesting that the PAR may contain many genes. Our comparative mapping shows that most fully sex-linked genes in S. latifolia are located on a single S. vulgaris linkage group and were probably inherited from a single autosome of an ancestor. However, unexpectedly, our maps suggest that the S. latifolia PAR region expanded through translocation events. Some genes in these regions still recombine in S. latifolia, but some genes from both addition events are now fully sex-linked. Recombination suppression is therefore still ongoing in S. latifolia, and multiple recombination suppression events have occurred in a timescale of few million years, much shorter than the timescale of formation of the most recent evolutionary strata of mammal and bird sex chromosomes. It is now understood that the large nonrecombining regions of sex chromosomes in mammals have expanded over evolutionary time, forming "evolutionary strata" with differing levels of sequence divergence between X-and Y-gene pairs, from ancient highly diverged regions, to regions in which the genes started diverging much more recently, which are located closest to the pseudo-autosomal region (PAR) on the X chromosome genetic and physical maps (Lahn and Page 1999;Skaletsky et al. 2003;Marais et al. 2008). The more recent evolutionary strata were formed by recombination suppression in regions formed by an addition of autosomal genetic material to the sex chromosomes (Waters et al. 2001), demonstrating that suppressed recombination spread from the ancestral sex chromosomal region into initially recombining regions. The PAR is shared across Eutherian mammals (despite differences in its boundary and the recent addition of a second PAR, PAR2, in humans), which is a physically small remnant of the added region, which is still autosomal in marsupials (Waters et al. 2001).The major current explanation for the evolution of expanded nonrecombining regions of sex chromosomes is

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“…All characterized genes within PAR1 escape X inactivation. X-Y pairing in the PAR is thought to *Address correspondence to this author at the Basic & Clinical Genomics Laboratory, School of Medical Sciences and Bosch Institute, The University of Sydney, NSW 2006, Australia; Tel: 61-2-93513688; Fax: 61-2-93512227; E-mail: brianm@medsci.usyd.edu.au serve a critical function in spermatogenesis, at least in humans and mouse [9][10][11]. PAR2 is located at the tips of the long arms and is a much shorter region, spanning only 320 kb [12].…”

Section: The Pseudoautosomal Regionsmentioning

confidence: 99%

“…All characterized genes within PAR1 escape X inactivation. X-Y pairing in the PAR is thought to serve a critical function in spermatogenesis, at least in humans and mouse [9][10][11]. PAR2 is located at the tips of the long arms and is a much shorter region, spanning only 320 kb [12].…”

mentioning

confidence: 99%

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

Mangs¹,

Morris

2007

203

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Abstract:The pseudoautosomal regions (PAR1 and PAR2) of the human X and Y chromosomes pair and recombine during meiosis. Thus genes in this region are not inherited in a strictly sex-linked fashion. PAR1 is located at the terminal region of the short arms and PAR2 at the tips of the long arms of these chromosomes. To date, 24 genes have been assigned to the PAR1 region. Half of these have a known function. In contrast, so far only 4 genes have been discovered in the PAR2 region. Deletion of the PAR1 region results in failure of pairing and male sterility. The gene SHOX (short stature homeobox-containing) resides in PAR1. SHOX haploinsufficiency contributes to certain features in Turner syndrome as well as the characteristics of Leri-Weill dyschondrosteosis. Only two of the human PAR1 genes have mouse homologues. These do not, however, reside in the mouse PAR1 region but are autosomal. The PAR regions seem to be relics of differential additions, losses, rearrangements and degradation of the X and Y chromosome in different mammalian lineages. Marsupials have three homologues of human PAR1 genes in their autosomes, although, in contrast to mouse, do not have a PAR region at all. The disappearance of PAR from other species seems likely and this region will only be rescued by the addition of genes to both X and Y, as has occurred already in lemmings. The present review summarizes the current understanding of the evolution of PAR and provides up-to-date information about individual genes residing in this region. THE X AND Y CHROMOSOMESThe human sex chromosomes (X and Y) originate from an ancestral homologous chromosome pair, which during mammalian evolution lost homology due to progressive degradation of the Y chromosome [1]. The X-chromosome in placental mammals represents approximately 5% of the haploid genome and the gene content is almost completely conserved amongst species. To ensure dosage compensation, most genes on the X are subject to X inactivation in females. The Y chromosome is much smaller than the X, being only 2-3% of the haploid genome, and is largely composed of repeated sequences. Most genes on the Y have relatives on the X chromosome and these are not subject to X inactivation. The degeneration of the Y chromosome has been researched and reviewed extensively [2][3][4][5][6]. THE PSEUDOAUTOSOMAL REGIONSThe pseudoautosomal regions (PAR1 and PAR2) are short regions of homology between the mammalian X and Y chromosomes. The PAR behave like an autosome and recombine during meiosis. Thus genes in this region are inherited in an autosomal rather than a strictly sex-linked fashion.PAR1 comprises 2.6 Mb of the short-arm tips of both X and Y chromosomes in humans and other great apes [7,8] and is required for pairing of the X and Y chromosomes during male meiosis. All characterized genes within PAR1 escape X inactivation. X-Y pairing in the PAR is thought to serve a critical function in spermatogenesis, at least in humans and mouse [9][10][11]. PAR2 is located at the tips of the long arms and is a much shor...

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Fertility in mice requires X-Y pairing and a Y-chromosomal “Spermiogenesis” gene mapping to the long arm

Cited by 174 publications

References 33 publications

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

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

Expansion of the Pseudo-autosomal Region and Ongoing Recombination Suppression in the Silene latifolia Sex Chromosomes

The Human Pseudoautosomal Region (PAR): Origin, Function and Future

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