The cluster of changes is not restricted to men with severe testicular dysfunction. These alterations might be involved in male infertility or might increase the risk of male infertility.
The information of related literatures
1. K. Stouffs, W. Lissens, H. Tournaye, A. Van Steirteghem and I. Liebaers (2006) Alterations of the USP26 gene in Caucasian men. Int J Androl 29(6): 614-7.
Abstract The Ubiquitin Specific Protease 26 gene is a testis-specific gene that is located on the X chromosome. Sequence variants of this gene were previously reported in men with azoospermia caused by defects at the level of spermatogenesis. Especially a cluster of three changes (c.370_371insACA, c.494T>C and c.1423C>T) was frequently observed. To further define the role of this cluster of sequence variants in the USP26 gene, we have now analysed 202 control samples and 146 patients of Caucasian origin with cryptozoospermia or oligozoospermia. The detection method was based on a restriction reaction, by which the change c.494T>C can be detected. In none of the patients, the change c.494T>C was observed. Only in one man with normal spermatogenesis this sequence variant was detected. Sequencing can confirm the presence of the three changes of the USP26 gene. These data indicate that the cluster of changes is not restricted to men with severe testicular dysfunction. PMID: [17121659]
2. J. Zhang, S. D. Qiu, S. B. Li, D. X. Zhou, H. Tian, Y. W. Huo, L. Ge and Q. Y. Zhang (2007) Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. Asian J Androl 9(6): 809-14.
3. K. Stouffs, W. Lissens, H. Tournaye, A. Van Steirteghem and I. Liebaers (2005) Possible role of USP26 in patients with severely impaired spermatogenesis. Eur J Hum Genet 13(3): 336-40.
Abstract The ubiquitin-specific protease 26 (USP26) gene is an X-linked gene specifically expressed in testis tissue. This gene is therefore a potential infertility gene. In order to analyse its possible involvement in spermatogenesis and infertility, 42 patients with Sertoli cell-only syndrome were analysed for mutations in this gene. We found four patients with exactly the same three changes of the nucleotide and therefore also amino acid sequence. These patients showed 370-371insACA, 494T>C and 1423C>T causing T123-124ins, L165S and H475Y, respectively. These changes were not found in 10 control samples. Furthermore, two polymorphisms were observed which do not alter the amino-acid sequence. A restriction analysis that can make a distinction between a T and a C, at position 494, was set up in order to examine more patient and control samples. Another 69 patients with Sertoli cell-only syndrome, 32 patients with maturation arrest and 142 control samples were analysed using this method. None of the control samples or patients with maturation arrest featured the change at position 494. However, four more patients with Sertoli cell-only syndrome were identified with the three alterations. The frequency of alterations in this group is therefore 7.2% (8/111). One of the patients had a deletion of the long arm of the Y chromosome, while another patient had a varicocoele. These results indicate that these alterations might be involved in male infertility or might increase the risk of male infertility. PMID: [15562280]
4. I. W. Lee, L. C. Kuan, C. H. Lin, H. A. Pan, C. C. Hsu, Y. C. Tsai, P. L. Kuo and Y. N. Teng (2008) Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect. Asian J Androl 10(6): 896-904.
Figures for illustrating the function of this protein/gene
Function
Involved in the ubiquitin-dependent proteolytic pathwayin conjunction with the 26S proteasome (By similarity).Deubiquitinates the androgen receptor and regulates the androgenreceptor signaling pathway.
CHAIN 1 913 Ubiquitin carboxyl-terminal hydrolase 26. /FTId=PRO_0000080655. ACT_SITE 304 304 Nucleophile (By similarity). ACT_SITE 841 841 Proton acceptor (By similarity). VARIANT 123 123 T -> TT. /FTId=VAR_063413. VARIANT 165 165 L -> S. /FTId=VAR_063414. VARIANT 364 364 L -> F. /FTId=VAR_063415. VARIANT 475 475 H -> Y. /FTId=VAR_063416. VARIANT 517 517 L -> F. /FTId=VAR_063417. VARIANT 579 579 M -> I. /FTId=VAR_063418. MUTAGEN 304 304 C->S: Results in increased AR signaling. Back to Top