Aim： To complete comprehensive haplotype analysis of USP26 for both fertile and infertile men. Methods： Two hundred infertile men with severe oligospermia or non-obstructive azoospermia were subjected to sequence an...Aim： To complete comprehensive haplotype analysis of USP26 for both fertile and infertile men. Methods： Two hundred infertile men with severe oligospermia or non-obstructive azoospermia were subjected to sequence analysis for the entire coding sequences of the USP26 gene. Two hundred men with proven fertility were genotyped by primer extension methods. Allele/genotype frequencies, linkage disequilibrium （LD） characteristics and haplotypes of fertile men were compared with infertile men. Results： The allele frequencies of five single nucleotide polymor- phisms （370-37 linsACA, 494T〉C, 576G〉A, ss6202791C〉T, 1737G〉A） were significantly higher in infertile patients than control subjects. The major haplotypes in infertile men were TACCGA （28% of the population）, TGCCGA （15%）, TACCAA （8%）, TGCCAA （6%）, TATCAA （5%） and CATCAA （5%）. The major haplotypes for the control subjects were TACCGA （58% of the population）, CACCGA （7%）, CATCGA （6%） and TGCCGA （5%）. Haplotypes TGCCGA, TATCAA, CATCAA, CATCGC, TACCAA and TGCCAA were over-transmitted in patients with spermato- genic defect, whereas haplotypes TACCGA, CACCGA, and CATCGA were under-transmitted in these patients. Conclusion： Some USP26 alleles and haplotypes are associated with spermatogenic defect in the Han nationality in Taiwan, China.展开更多
Deubiquitinating enzymes （DUBs） play an important role in ubiquitin-dependent processes as negative regulators of protein ubiquitination. Ubiquitin-specific protease 26 （USP26） is a member of this family. The expr...Deubiquitinating enzymes （DUBs） play an important role in ubiquitin-dependent processes as negative regulators of protein ubiquitination. Ubiquitin-specific protease 26 （USP26） is a member of this family. The expression of Usp26 in mammalian testis and in other tissues has yet to be fully elucidated. To study the expression of Usp26 mRNA and protein in various murine tissues, reverse transcription （RT）-PCR and immunohistochemistry analyses were carried out. The RT-PCR analysis showed that the Usp26 transcript was expressed in all of the tested tissues. USP26 protein localization was examined by immunohistochemistry, and it was shown that USP26 was not detectable at 20 days postpartum, with the expression restricted to the cytoplasm of condensing spermatids （steps 9-16）, Leydig cells and nerve fibers in the brain. In addition, the USP26 protein was detected at moderate levels in myocardial ceils, the corpus of epidydimis, epithelium of the renal tubules and the seminal gland of postnatal day 35 mice. Its spatial and temporal expression pattern suggests that Usp26 may play an important role in development or function of the testis and brain. Further research into these possibilities is in progress.展开更多
目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关...目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关系。方法在排除染色体畸变和Y染色体微缺失的基础上,对156例无精子症和非梗阻性少精子症不育患者和86例正常生育男性对照者进行了USP26基因测序。结果USP26基因序列存在6种改变,其中g.508G>A,p.G170R仅在少精子组中发现,以前未见报道。除同义突变g.576G>A外,其他序列改变在不育组和生育组中的分布没有显著差异。结论USP26基因序列改变可能并不直接影响精子发生。展开更多
文摘Aim： To complete comprehensive haplotype analysis of USP26 for both fertile and infertile men. Methods： Two hundred infertile men with severe oligospermia or non-obstructive azoospermia were subjected to sequence analysis for the entire coding sequences of the USP26 gene. Two hundred men with proven fertility were genotyped by primer extension methods. Allele/genotype frequencies, linkage disequilibrium （LD） characteristics and haplotypes of fertile men were compared with infertile men. Results： The allele frequencies of five single nucleotide polymor- phisms （370-37 linsACA, 494T〉C, 576G〉A, ss6202791C〉T, 1737G〉A） were significantly higher in infertile patients than control subjects. The major haplotypes in infertile men were TACCGA （28% of the population）, TGCCGA （15%）, TACCAA （8%）, TGCCAA （6%）, TATCAA （5%） and CATCAA （5%）. The major haplotypes for the control subjects were TACCGA （58% of the population）, CACCGA （7%）, CATCGA （6%） and TGCCGA （5%）. Haplotypes TGCCGA, TATCAA, CATCAA, CATCGC, TACCAA and TGCCAA were over-transmitted in patients with spermato- genic defect, whereas haplotypes TACCGA, CACCGA, and CATCGA were under-transmitted in these patients. Conclusion： Some USP26 alleles and haplotypes are associated with spermatogenic defect in the Han nationality in Taiwan, China.
基金Acknowledgment We thank the laboratory, clinical and paramedical staff of the center of Reproductive Medicine, and the Department of Pathology for their assistance. This study was supported by the National Natural Science Foundation of China （30471735 and 30700654） and the Sci-Technical Development Project of Shanxi Province, China （2006K 15-G4）.
文摘Deubiquitinating enzymes （DUBs） play an important role in ubiquitin-dependent processes as negative regulators of protein ubiquitination. Ubiquitin-specific protease 26 （USP26） is a member of this family. The expression of Usp26 in mammalian testis and in other tissues has yet to be fully elucidated. To study the expression of Usp26 mRNA and protein in various murine tissues, reverse transcription （RT）-PCR and immunohistochemistry analyses were carried out. The RT-PCR analysis showed that the Usp26 transcript was expressed in all of the tested tissues. USP26 protein localization was examined by immunohistochemistry, and it was shown that USP26 was not detectable at 20 days postpartum, with the expression restricted to the cytoplasm of condensing spermatids （steps 9-16）, Leydig cells and nerve fibers in the brain. In addition, the USP26 protein was detected at moderate levels in myocardial ceils, the corpus of epidydimis, epithelium of the renal tubules and the seminal gland of postnatal day 35 mice. Its spatial and temporal expression pattern suggests that Usp26 may play an important role in development or function of the testis and brain. Further research into these possibilities is in progress.
文摘目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关系。方法在排除染色体畸变和Y染色体微缺失的基础上,对156例无精子症和非梗阻性少精子症不育患者和86例正常生育男性对照者进行了USP26基因测序。结果USP26基因序列存在6种改变,其中g.508G>A,p.G170R仅在少精子组中发现,以前未见报道。除同义突变g.576G>A外,其他序列改变在不育组和生育组中的分布没有显著差异。结论USP26基因序列改变可能并不直接影响精子发生。
