Absence of the<i>H2AX</i>Mutations in Idiopathic Infertile Men with Spermatogenic Impairment

Zhang, Wei; Yang, Yuan; Su, Dan; Ma, Yongxin; Zhang, Sizhong

doi:10.1080/19396360701883266

Cited by 6 publications

(5 citation statements)

References 20 publications

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“…However, in our previous study in infertile men, we did not find any mutations or genetic risk factors of H2AX [24]. On the other hand, male mice with null Tssk6 were infertile.…”

Section: Discussioncontrasting

confidence: 62%

c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population

Su¹,

Zhang²,

Yang³

et al. 2009

Asian J Androl

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“…However, in our previous study in infertile men, we did not find any mutations or genetic risk factors of H2AX [24]. On the other hand, male mice with null Tssk6 were infertile.…”

Section: Discussioncontrasting

confidence: 62%

c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population

Su¹,

Zhang²,

Yang³

et al. 2009

Asian J Androl

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“…3,49 Several other studies have investigated genes including SYCP3, SPO11, FKBP6, BOULE, H2AX and REC8, but have failed to identify any disease-causing mutations. 3,[50][51][52][53][54][55][56][57] The initiation of meiotic recombination is regulated in a large part by the protein SPO11. The SPO11 protein is a type II topoisomerase required for DSB formation in the leptotene stage.…”

Section: Meiotic Recombinationmentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.

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“…Indeed, although some infertility studies have identified disease-causing mutations, [4][5][6] others have failed to identify any causal mutations, possibly due to the heterogeneous etiology of infertility. [7][8][9][10][11][12][13][14] Even when samples are appropriately collected from patients with a meiotic defect, this complicated biological process in prophase I is mediated by numerous meiotic genes responsible for homologous recombination, synapsis or sister chromatid cohesion. Indeed, even in yeast it is estimated that hundreds of genes may be involved in the meiotic process.…”

Section: Introductionmentioning

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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Absence of theH2AXMutations in Idiopathic Infertile Men with Spermatogenic Impairment

Cited by 6 publications

References 20 publications

c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population

c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population

Meiotic recombination and male infertility: from basic science to clinical reality?

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

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