A Novel Testis-Enriched Gene Spata33 Is Expressed during Spermatogenesis

Chen, Hengling; Yi, Minhan; Sheng, Yuchen; Cheng, Hanhua; Zhou, Rongjia

doi:10.1371/journal.pone.0067882

Cited by 14 publications

(14 citation statements)

References 37 publications

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“…The following pieces of evidence based on our immunohistochemistry results showed the expression of SPATA33 protein in spermatogonia, spermatocyte, and spermatid cells in the control group. This is in agreement with a former study that indicated that SPATA33 was predominantly expressed in the spermatocytes, spermatogonia, and round spermatids (Chen et al, 2013).…”

Section: Discussionsupporting

confidence: 94%

“…From the gene expression point of view, in a previous research, in 2013, by Chen, a close relationship between the expression level of SPATA33 and the first spermatogenic wave in the mouse postnatal testis was illustrated (Chen et al, ). In agreement with Chen’s result, our data on the SPATA33 gene expression at the mRNA level in azoospermic patients, including patients with SCOS, MA, and HS (as the control group) revealed a significant decrease in the SPATA33 gene expression in the SCOS group compared with the MA and control groups.…”

Section: Discussionmentioning

confidence: 89%

“…Multiple tissue analysis of SPATA33 indicated that it was mainly expressed in the testis, slightly in heart, and not at all in other tissues investigated. The testis‐enriched expression of SPATA33 implied its potential roles in spermatogenesis (Chen et al, ). In our case–control study, we did not find any association between male infertility and a gene variant of the SPATA33 in the Iranian population.…”

Section: Discussionmentioning

confidence: 99%

“…Its expression is increased during the first wave of the spermatogenesis, indicating that SPATA33 may be associated with the meiotic process. Immunohistochemistry analysis in a mouse model revealed that SPATA33 was mainly expressed in the spermatocytes, spermatogonia, and round spermatids, which indicates its potential role in developmental regulation during spermatogenesis (Chen, Yi, Sheng, Cheng, & Zhou, ).…”

Section: Introductionmentioning

confidence: 99%

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Gene alterations and expression spectrum of SPATA33 in nonobstructive azoospermic Iranian men

Monsef

Boroujeni

Totonchi

et al. 2018

Molecular Reproduction Devel

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Genetic abnormalities have been considered a significant cause of male infertility. Increased expression of SPATA33 during the first wave of spermatogenesis indicates its possible association with the meiotic process. The aim of the current study was to investigate the genetic variations in the SPATA33 gene and its expression in patients with nonobstructive azoospermia (NOA). A total of 100 Iranian NOA men with idiopathic infertility were taken as the case group. The control group comprised 100 fertile men who had at least one child. The presence of nucleotide variations was analyzed in both groups using the standard polymerase chain reaction (PCR) sequencing technique. For mRNA and protein expression studies, testicular biopsy specimens from 27 patients were subdivided into three groups: nine obstructive azoospermic patients with hypospermatogenesis as control; nine maturation arrest (MA) and nine Sertoli cell-only syndromes (SCOS) as case groups. The expression of SPATA33 at both mRNA and protein levels was compared among these three groups using the reverse transcription PCR technique, the realtime-PCR technique, and immunohistochemistry. Mutation analysis of the SPATA33 gene revealed five nucleotide changes among the population studied. All but one showed no significant differences between the groups. The genotype distributions of rs112536073A > T in the transcription factor binding site region with heterozygote and homozygote genotypes were significantly different ( p < 0.05) between the two groups. More heterozygotes of this polymorphism were observed in patients, whereas more homozygotes were detected in controls. Accordingly, the current study illustrated that alterations in SPATA33 gene, at least those found in this study, may not impair spermatogenesis in patients with NOA. Reduction of gene expression at the level of mRNA in patients with SCOS can be interpreted by the absence of germ cells in the testicular tissue of these patients.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Gene alterations and expression spectrum of SPATA33 in nonobstructive azoospermic Iranian men

Monsef

Boroujeni

Totonchi

et al. 2018

Molecular Reproduction Devel

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show abstract

“…Treatments for male infertility have not been developed as the associated molecular mechanisms are not well understood (2). A more detailed investigation of the physiological mechanisms of spermatogenesis is required for an improved understanding of infertility prior to the development of therapies for this condition.…”

Section: Introductionmentioning

confidence: 99%

Identification and characteristics of the testes-specific gene, Ccdc38, in mice

Lin

Guo

et al. 2016

Molecular Medicine Reports

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Abstract. Distinguishing the testes-specific genes in different species may disclose key genes associated with testes-specific functions and provide sufficient information for the study and treatment of male infertility. A testes-specific gene, coiled-coil domain containing 38 (Ccdc38), was identified by screening UniGene libraries. Systematic bioinformatics analysis demonstrated that the CCDC38 protein was conserved in various mammalian species. It was determined that CCDC38 was exclusively expressed in testes and its expression increased from 2-8 weeks of age. Additional immunohistochemical analysis indicated that CCDC38 was mainly expressed in spermatogonia and spermatocytes. It is of note that, immunofluorescence and co-immunoprecipitation assays demonstrated that CCDC38 interacted with ubiquitinated histone H2A in mouse testes. Therefore, these results suggest that Ccdc38 is a testes-specific gene, which may be important for mouse spermatogenesis. IntroductionInfertility affects ~15% of couples worldwide, with half of cases reported to be due to the male partner (1). Treatments for male infertility have not been developed as the associated molecular mechanisms are not well understood (2). A more detailed investigation of the physiological mechanisms of spermatogenesis is required for an improved understanding of infertility prior to the development of therapies for this condition.Spermatogenesis is a complicated developmental process. Spermatogonia differentiate into spermatocytes and spermatids during two meiotic divisions, which leads to the production of mature sperm (3). Defects at any stage of this process may lead to infertility. The process involves various genes, which encode proteins that in turn are important for specific stages of germ cell development. Theses genes are primarily expressed in spermatogenic cells, and are regulated at the transcriptional or post-transcriptional level. The identification of germ cell-specific or testes-specific genes involved in these unique events provides a means by which to dissect the differentiation program and to study the mechanisms of spermatogenesis. Previous studies have identified a number of testes-specific genes in humans and mice, including fibronectin type 3 and ankyrin repeat domains 1 (4), A kinase (PRKA) anchor protein 3 (5), protein lifeguard 5 (6), protease, serine 41 (7), spermatogenesis associated 33 (2) and testis-specific serine kinase 4 (8). In addition to the aforementioned genes it is possible that additional testis-specific genes exist and provide unique functions.Coiled-coil domain containing 38 (Ccdc38) was selected from the expressed sequence tags (ESTs) obtained through the comparison of testes gene libraries with the libraries of other tissues and cell lines using the differential digital display program (9). The EST profile of Ccdc38 in Unigene (Mm.477086) indicates that the Ccdc38 transcript is detected solely in murine testes, which is consistent with the report at BioGPS.org (10). Ccdc38 orthologs are present in other species, i...

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