Testicular expression of synaptonemal complex protein 3 (SYCP3) messenger ribonucleic acid in 110 patients with nonobstructive azoospermia

Aarabi, Mahmoud; Modarressi, Mohammad Hossein; Soltanghoraee, Haleh; Behjati, Reza; Amirjannati, Naser; Akhondi, Mohammad Mehdi

doi:10.1016/j.fertnstert.2005.12.070

Cited by 34 publications

(31 citation statements)

References 31 publications

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“…They have nuclear localization signals and 30% identity to the synaptonemal complex protein 3 (SYCP3) of rodents and the human ortholog [12], that may suggest that they are involved in the meiotic process. Indeed, two reports have implicated SYCP3 mutations in patients with non-obstructive azoospermia [20, 21]. In a series of 19 azoospermic patients with maturation arrest, Miyamoto et al [21] identified 2 patients with a 1-bp deletion that results in the truncation of the SYCP3 protein and interference in SYCP3 fiber formation [21].…”

Section: Discussionmentioning

confidence: 99%

“…In a series of 19 azoospermic patients with maturation arrest, Miyamoto et al [21] identified 2 patients with a 1-bp deletion that results in the truncation of the SYCP3 protein and interference in SYCP3 fiber formation [21]. Aarabi et al [20] investigated 110 males and reported that lack of expression of SYCP3 in testicular biopsies was found in 39%. Although it was expressed in patients with spermatogenesis and maturation arrest, a lack of expression was seen in all of those men with spermatogonial arrest, Sertoli cell-only syndrome, and testicular atrophy.…”

Section: Discussionmentioning

confidence: 99%

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Testicular Expressed Genes Are Missing in Familial X-Linked Kallmann Syndrome due to Two Large Different Deletions in Daughter’s X Chromosomes

Hershkovitz¹,

Loewenthal²,

Peretz³

et al. 2008

Horm Res Paediatr

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Background: X-linked Kallmann syndrome (KS) is caused mainly by point mutations, in the KAL1 gene. Large deletions >1 Mb are rare events in the human population and commonly result in contiguous gene syndromes. Methods: A search for the mutation causing KS carried out on two pairs of first-degree cousins of 2 sisters. Results: Two different apparently independent deletions were found. The deleted sequences encompass the KAL1 gene and four known additional genes exclusively expressed in testis. Two of these genes belong to the FAM9 gene family, which shares some homology with the SCYP3 gene, previously implicated in azoospermia. One of the events causing the deletion may have been mediated by an L1 transposition, the other by a non-homologous end joining. Such non-homologous recombinations have not yet been reported in the KAL genomic region and thus this area may be more prone to deletions than previously expected. Conclusions: This is the first report on genetic characterization of KS with a deletion of solely testis-expressed genes. The absence of these genes may have unfavorable implications for the patients regarding future fertility.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Testicular Expressed Genes Are Missing in Familial X-Linked Kallmann Syndrome due to Two Large Different Deletions in Daughter’s X Chromosomes

Hershkovitz¹,

Loewenthal²,

Peretz³

et al. 2008

Horm Res Paediatr

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“…No expression was seen in cases of spermatogonial arrest or sertoli cell only syndrome. Two patients with very few spermatocytes also showed no expression of SCP3 [Aarabi et al 2006]. SCP2 (Fig.…”

Section: Synaptonemal Complexmentioning

confidence: 93%

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

Sanderson

Hassold

Carrell

2008

Systems Biology in Reproductive Medicine

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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.

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“…Paraffin-embedded thin sections of testicular biopsies were prepared and stained using hematoxylin/eosin (H&E) method [19,20]. Depending on the size of each tissue biopsy, 20 to 200 seminiferous tubules were examined in each patient.…”

Section: Histopathological Evaluationmentioning

confidence: 99%

Molecular analysis of testis biopsy and semen pellet as complementary methods with histopathological analysis of testis in non-obstructive azoospermia

Eghbali

Sadeghi

Lakpour

et al. 2014

J Assist Reprod Genet

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Purpose Non-obstructive azoospermia (NOA) is one the many causes of male infertility (10 %) resulting from testicular failure. Multiple testicular biopsies fail to find mature sperm in at least 50 % of cases Therefore; hunting for sensitive and specific biomarkers of spermatogenesis that could better determine the fertility status in NOA can lead to improved management of male infertility. Therefore, we evaluated sperm production through analyses of germ cell-specific transcripts (DAZ, TSPY1, SPTRX3 and SPTRX1) in semen and testicular biopsies of men with azoospermia. Methods We collected semen (N=83) and testis biopsies (N= 31) from men with non-obstructive azoospermia. We later extracted RNA and synthesized cDNA using washed semen precipitate and testicular tissues. We also performed seminested PCR with designed specific primers. Using H&E method, an expert pathologist performed the histopathological evaluation. Having categorized the patients into three groups based on histopathological results, we calculated the agreement between molecular results of semen and tissues with histopathological findings for each patient using Kappa statistical test. Results Molecular findings of precipitated semen and testicular tissues were in disagreement with histopathological results in most cases. Molecular analysis of testis biopsies showed significant difference (Kappa coefficient=0.009, P value= 0.894) with histopathological results; TSPY1, DAZ, SPTRX3 and SPTRX1 were respectively detected in 94 %, 94 %, 17.6 % and 52.9 % of men diagnosed with germ cell aplasia.Capsule The molecular analysis of testicular tissues and semen precipitates for the presence of germ cell-specific transcripts is a diagnostic test that could be of help in the detection of active spermatogenesis in men with non-obstructive azoospermia.

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Testicular expression of synaptonemal complex protein 3 (SYCP3) messenger ribonucleic acid in 110 patients with nonobstructive azoospermia

Cited by 34 publications

References 31 publications

Testicular Expressed Genes Are Missing in Familial X-Linked Kallmann Syndrome due to Two Large Different Deletions in Daughter’s X Chromosomes

Testicular Expressed Genes Are Missing in Familial X-Linked Kallmann Syndrome due to Two Large Different Deletions in Daughter’s X Chromosomes

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

Molecular analysis of testis biopsy and semen pellet as complementary methods with histopathological analysis of testis in non-obstructive azoospermia

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