Baseline expression profile of meiotic-specific genes in healthy fertile males

Nogués, Carme; Fernández, Cristina; Rajmil, Osvaldo; Templado, C.

doi:10.1016/j.fertnstert.2008.06.034

Cited by 12 publications

(6 citation statements)

References 40 publications

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“…In anaphase I, STAG3 vanishes entirely and is not observed at later stages of meiosis. In other vertebrates such as marsupials, a similar localization of STAG3 in spermatocytes was reported (Page et al, 2006) and expression patterns in human testis, ovary, spermatocytes, and oocytes are consistent with the observations in mice and a role in sister chromatid cohesion (Houmard et al, 2009;Nogues et al, 2009;Garcia-Cruz et al, 2010). In oocytes, a similar pattern of chromosome associations was observed where STAG3 is found along chromosome axes from leptonema to diplonema and dissociates during dictyate arrest .…”

Section: Introductionsupporting

confidence: 86%

Meiotic cohesin STAG3 is required for chromosome axis formation and sister chromatid cohesion

2014

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The cohesin complex is essential for mitosis and meiosis. The specific meiotic roles of individual cohesin proteins are incompletely understood. We report in vivo functions of the only meiosisspecific STAG component of cohesin, STAG3. Newly generated STAG3-deficient mice of both sexes are sterile with meiotic arrest. In these mice, meiotic chromosome architecture is severely disrupted as no bona fide axial elements (AE) form and homologous chromosomes do not synapse. Axial element protein SYCP3 forms dot-like structures, many partially overlapping with centromeres. Asynapsis marker HORMAD1 is diffusely distributed throughout the chromatin, and SYCP1, which normally marks synapsed axes, is largely absent. Centromeric and telomeric sister chromatid cohesion are impaired. Centromere and telomere clustering occurs in the absence of STAG3, and telomere structure is not severely affected. Other cohesin proteins are present, localize throughout the STAG3-devoid chromatin, and form complexes with cohesin SMC1b. No other deficiency in a single meiosisspecific cohesin causes a phenotype as drastic as STAG3 deficiency. STAG3 emerges as the key STAG cohesin involved in major functions of meiotic cohesin.

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Section: Introductionsupporting

confidence: 86%

Meiotic cohesin STAG3 is required for chromosome axis formation and sister chromatid cohesion

2014

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“…Hence, we conclude that in addition to differences in chromosomal origin, there are probably substantial differences between mitotic and meiotic NAHR events in the NF1 gene region with respect to the presence or absence of recombination hotspots as well as GC-content and DNA stability in the respective breakpoint regions. Perhaps significantly, Spo11, which binds to DSBs and initiates meiotic NAHR, is not expressed in mammalian mitotic cells [Nogués et al, 2009;Shannon et al, 1999]. It remains to be seen whether these differences between meiotic and mitotic NAHR are specific to the NF1 gene region or whether they may instead reflect a more general difference in the mechanism(s) underlying germline and somatic gross chromosomal rearrangements.…”

Section: Discussionmentioning

confidence: 99%

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

et al. 2010

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Nonallelic homologous recombination (NAHR) is responsible for the recurrent rearrangements that give rise to genomic disorders. Although meiotic NAHR has been investigated in multiple contexts, much less is known about mitotic NAHR despite its importance for tumorigenesis. Because type-2 NF1 microdeletions frequently result from mitotic NAHR, they represent a good model in which to investigate the features of mitotic NAHR. We have used microsatellite analysis and SNP arrays to distinguish between the various alternative recombinational possibilities, thereby ascertaining that 17 of 18 type-2 NF1 deletions, with breakpoints in the SUZ12 gene and its highly homologous pseudogene, originated via intrachromosomal recombination. This high proportion of intrachromosomal NAHR causing somatic type-2 NF1 deletions contrasts with the interchromosomal origin of germline type-1 NF1 microdeletions, whose breakpoints are located within the NF1-REPs (low-copy repeats located adjacent to the SUZ12 sequences). Further, meiotic NAHR causing type-1 NF1 deletions occurs within recombination hotspots characterized by high GC-content and DNA duplex stability, whereas the type-2 breakpoints associated with the mitotic NAHR events investigated here do not cluster within hotspots and are located within regions of significantly lower GC-content and DNA stability. Our findings therefore point to fundamental mechanistic differences between the determinants of mitotic and meiotic NAHR.

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“…Other investigators have attempted to identify candidate genes using expression profiling of testicular tissue obtained from patients with azoospermia. 33,34 Indeed, one candidate polymorphism responsible for non-obstructive azoospermia has now been identified using this strategy. 35 From our current experiments, we obtained 726 candidate meiosisspecific genes that may constitute a useful resource for identifying genes associated with non-obstructive azoospermia with meiotic arrest in humans.…”

Section: Screening Of Genes Involved In Meiosis I H Kogo Et Almentioning

confidence: 99%

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

et al. 2010

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Prophase I of male meiosis during early spermatogenesis involves dynamic chromosome segregation processes, including synapsis, meiotic recombination and cohesion. Genetic defects in the genes that participate in these processes consistently cause reproduction failure in mice. To identify candidate genes responsible for infertility in humans, we performed gene expression profiling of mouse spermatogenic cells undergoing meiotic prophase I. Cell fractions enriched in spermatogonia, leptotene/zygotene spermatocytes or pachytene spermatocytes from developing mouse testis were separately isolated by density gradient sedimentation and subjected to microarray analysis. A total of 726 genes were identified that were upregulated in leptotene/zygotene spermatocytes. To evaluate the screening efficiency for meiosis-specific genes, we randomly selected 12 genes from this gene set and characterized each gene product using reverse transcription (RT)-PCR of RNA from gonadal tissues, in situ hybridization on testicular tissue sections and subcellular localization analysis of the encoded protein. Four of the 12 genes were confirmed as genes expressed in meiotic stage and 2 of these 4 genes were novel, previously uncharacterized genes. Among the three confirmation methods that were used, RT-PCR appeared to be the most efficient method for further screening. These 726 candidates for human infertility genes might serve as a useful resource for next-generation sequencing combined with exon capture by microarray.

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Baseline expression profile of meiotic-specific genes in healthy fertile males

Cited by 12 publications

References 40 publications

Meiotic cohesin STAG3 is required for chromosome axis formation and sister chromatid cohesion

Meiotic cohesin STAG3 is required for chromosome axis formation and sister chromatid cohesion

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

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