Screening the SPO11 and EIF5A2 genes in a population of infertile men

Christensen, Greg L.; Ivanov, Ivaylo P.; Atkins, John F.; Mielnik, Anna; Carrell, Douglas T.

doi:10.1016/j.fertnstert.2005.03.053

Cited by 30 publications

(20 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…For most part, disease-causing mutations involved in male meiosis have remained largely elusive with the exception of SPO11 and SYCP3 mutations. 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.…”

Section: Meiotic Recombinationmentioning

confidence: 99%

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

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

View full text Add to dashboard Cite

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.

show abstract

Section: Meiotic Recombinationmentioning

confidence: 99%

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

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

View full text Add to dashboard Cite

show abstract

“…In the study of Christensen et al [16], 48 azoospermic and 48 severely oligospermic patients was enrolled. Finally, two azoospermic individuals were identified with single, heterozygous, missense mutations that changed a glutamic acid residue in exon 1 to lysine (E9K) and an aspartic acid residue in exon 9 to glutamic acid (D277E).…”

Section: Discussionmentioning

confidence: 99%

“…For example, when the SPO11 gene was disrupted in mice by homologous recombination, there was a generalized arrest of spermatogenesis in spermatocytes before the pachytene stage, resulting in male infertility [15]. The recent study of Greg et al found that mutations and polymorphisms of the SPO11 gene in azoospermia individuals of American population [16]. Prompted by these findings, we were interested in investigesting whether the SPO11 gene is associated with idiopathic male infertility in Chinese population.…”

Section: Introductionmentioning

confidence: 99%

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population

Zhang

Zhou

Wang

et al. 2011

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China.Methods Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Furthermore, nucleotide sequences were sequenced.

show abstract

“…One of the missense mutations identified corresponds to an amino acid residue shown to play a crucial role in DSB formation. Three of the SNPs were located in the 3 0 untranslated region, which could have an effect on transcription of this gene [Christensen et al 2005]. Although mutations in SPO11 and its regulatory sequences do not appear to be a common contributor to male infertility, when they are present, formation of DSB appears to be greatly affected.…”

Section: Homologous Recombination Double Strand Break Formationmentioning

confidence: 99%

Proteins Involved in Meiotic Recombination: A Role in Male Infertility?

Sanderson

Hassold

Carrell

2008

Systems Biology in Reproductive Medicine

Self Cite

View full text Add to dashboard Cite

Meiotic recombination results in the formation of crossovers, by which genetic information is exchanged between homologous chromosomes during prophase I of meiosis. Recombination is a complex process involving many proteins. Alterations in the genes involved in recombination may result in infertility. Molecular studies have improved our understanding of the roles and mechanisms of the proteins and protein complexes involved in recombination, some of which have function in mitotic cells as well as meiotic cells. Human gene sequencing studies have been performed for some of these genes and have provided further information on the phenotypes observed in some infertile individuals. However, further studies are needed to help elucidate the particular role(s) of a given protein and to increase our understanding of these protein systems. This review will focus on our current understanding of proteins involved in meiotic recombination from a genomic perspective, summarizing our current understanding of known mutations and single nucleotide polymorphisms that may affect male fertility by altering meiotic recombination.

show abstract

Screening the SPO11 and EIF5A2 genes in a population of infertile men

Cited by 30 publications

References 18 publications

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

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

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population

Proteins Involved in Meiotic Recombination: A Role in Male Infertility?

Contact Info

Product

Resources

About